Professor Peter St George-Hyslop

Collaborators

No collaborators listed

Associated News Items

• 8th UK/Korea Neuroscience Symposium (Cambridge) 15th – 16th September 2015
• Breaking the mould: Untangling the jelly-like properties of diseased proteins
• Video Launch: World Alzhemier's Day - Dementia: Catching the memory thief
• Selected Awards and Honours to Cambridge Neuroscience members in 2017
• Mechanism behind neuron death in motor neurone disease and frontotemporal dementia discovered

Publications

2014

Bras J, Guerreiro R, Darwent L, Parkkinen L, Ansorge O, Escott-Price V, Hernandez DG, Nalls MA, Clark LN, Honig LS, Marder K, Van Der Flier WM, Lemstra A, Scheltens P, Rogaeva E, St George-Hyslop P, Londos E, Zetterberg H, Ortega-Cubero S, Pastor P, Ferman TJ, Graff-Radford NR, Ross OA, Barber I, Braae A, Brown K, Morgan K, Maetzler W, Berg D, Troakes C, Al-Sarraj S, Lashley T, Compta Y, Revesz T, Lees A, Cairns N, Halliday GM, Mann D, Pickering-Brown S, Dickson DW, Singleton A, Hardy J (2014), “Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.” Hum Mol Genet Details

Cruchaga C, Karch CM, Jin SC, Benitez BA, Cai Y, Guerreiro R, Harari O, Norton J, Budde J, Bertelsen S, Jeng AT, Cooper B, Skorupa T, Carrell D, Levitch D, Hsu S, Choi J, Ryten M, UK Brain Expression Consortium, Hardy J, Ryten M, Trabzuni D, Weale ME, Ramasamy A, Smith C, Sassi C, Bras J, Gibbs JR, Hernandez DG, Lupton MK, Powell J, Forabosco P, Ridge PG, Corcoran CD, Tschanz JT, Norton MC, Munger RG, Schmutz C, Leary M, Demirci FY, Bamne MN, Wang X, Lopez OL, Ganguli M, Medway C, Turton J, Lord J, Braae A, Barber I, Brown K, Alzheimer’s Research UK Consortium, Passmore P, Craig D, Johnston J, McGuinness B, Todd S, Heun R, Kölsch H, Kehoe PG, Hooper NM, Vardy ER, Mann DM, Pickering-Brown S, Brown K, Kalsheker N, Lowe J, Morgan K, David Smith A, Wilcock G, Warden D, Holmes C, Pastor P, Lorenzo-Betancor O, Brkanac Z, Scott E, Topol E, Morgan K, Rogaeva E, Singleton AB, Hardy J, Kamboh MI, St George-Hyslop P, Cairns N, Morris JC, Kauwe JS, Goate AM (2014), “Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease.” Nature 505(7484):550-4 Details

Ferrari R, Hernandez DG, Nalls MA, Rohrer JD, Ramasamy A, Kwok JB, Dobson-Stone C, Brooks WS, Schofield PR, Halliday GM, Hodges JR, Piguet O, Bartley L, Thompson E, Haan E, Hernández I, Ruiz A, Boada M, Borroni B, Padovani A, Cruchaga C, Cairns NJ, Benussi L, Binetti G, Ghidoni R, Forloni G, Galimberti D, Fenoglio C, Serpente M, Scarpini E, Clarimón J, Lleó A, Blesa R, Waldö ML, Nilsson K, Nilsson C, Mackenzie IR, Hsiung GY, Mann DM, Grafman J, Morris CM, Attems J, Griffiths TD, McKeith IG, Thomas AJ, Pietrini P, Huey ED, Wassermann EM, Baborie A, Jaros E, Tierney MC, Pastor P, Razquin C, Ortega-Cubero S, Alonso E, Perneczky R, Diehl-Schmid J, Alexopoulos P, Kurz A, Rainero I, Rubino E, Pinessi L, Rogaeva E, St George-Hyslop P, Rossi G, Tagliavini F, Giaccone G, Rowe JB, Schlachetzki JC, Uphill J, Collinge J, Mead S, Danek A, Van Deerlin VM, Grossman M, Trojanowski JQ, van der Zee J, Deschamps W, Van Langenhove T, Cruts M, Van Broeckhoven C, Cappa SF, Le Ber I, Hannequin D, Golfier V, Vercelletto M, Brice A, (2014), “Frontotemporal dementia and its subtypes: a genome-wide association study.” Lancet Neurol 13(7):686-99 Details

Li Y, Lu SH, Tsai CJ, Bohm C, Qamar S, Dodd RB, Meadows W, Jeon A, McLeod A, Chen F, Arimon M, Berezovska O, Hyman BT, Tomita T, Iwatsubo T, Johnson CM, Farrer LA, Schmitt-Ulms G, Fraser PE, St George-Hyslop PH (2014), “Structural interactions between inhibitor and substrate docking sites give insight into mechanisms of human PS1 complexes.” Structure 22(1):125-35 Details

Michel CH, Kumar S, Pinotsi D, Tunnacliffe A, St George-Hyslop P, Mandelkow E, Mandelkow EM, Kaminski CF, Kaminski Schierle GS (2014), “Extracellular monomeric tau protein is sufficient to initiate the spread of tau protein pathology.” J Biol Chem 289(2):956-67 Details

Narayan P, Holmström KM, Kim DH, Whitcomb DJ, Wilson MR, St George-Hyslop P, Wood NW, Dobson CM, Cho K, Abramov AY, Klenerman D (2014), “Rare individual amyloid-? oligomers act on astrocytes to initiate neuronal damage.” Biochemistry 53(15):2442-53 Details

Steele JW, Brautigam H, Short JA, Sowa A, Shi M, Yadav A, Weaver CM, Westaway D, Fraser PE, St George-Hyslop PH, Gandy S, Hof PR, Dickstein DL (2014), “Early fear memory defects are associated with altered synaptic plasticity and molecular architecture in the TgCRND8 Alzheimer's disease mouse model.” J Comp Neurol 522(10):2319-35 Details

Xi Z, Rainero I, Rubino E, Pinessi L, Bruni AC, Maletta RG, Nacmias B, Sorbi S, Galimberti D, Surace EI, Zheng Y, Moreno D, Sato C, Liang Y, Zhou Y, Robertson J, Zinman L, Tartaglia MC, St George-Hyslop P, Rogaeva E (2014), “Hypermethylation of the CpG-island near the C9orf72 G4C2-repeat expansion in FTLD patients.” Hum Mol Genet Details

2013

Frost JL, Le KX, Cynis H, Ekpo E, Kleinschmidt M, Palmour RM, Ervin FR, Snigdha S, Cotman CW, Saido TC, Vassar RJ, St George-Hyslop P, Ikezu T, Schilling S, Demuth HU, Lemere CA (2013), “Pyroglutamate-3 amyloid-? deposition in the brains of humans, non-human primates, canines, and Alzheimer disease-like transgenic mouse models.” Am J Pathol 183(2):369-81 Details

Ghani M, Sato C, Lee JH, Reitz C, Moreno D, Mayeux R, St George-Hyslop P, Rogaeva E (2013), “Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity.” JAMA Neurol 70(10):1261-7 Details

Guerreiro R, Wojtas A, Bras J, Carrasquillo M, Rogaeva E, Majounie E, Cruchaga C, Sassi C, Kauwe JS, Younkin S, Hazrati L, Collinge J, Pocock J, Lashley T, Williams J, Lambert JC, Amouyel P, Goate A, Rademakers R, Morgan K, Powell J, St George-Hyslop P, Singleton A, Hardy J, Alzheimer Genetic Analysis Group (2013), “TREM2 variants in Alzheimer's disease.” N Engl J Med 368(2):117-27 Details

Holton P, Ryten M, Nalls M, Trabzuni D, Weale ME, Hernandez D, Crehan H, Gibbs JR, Mayeux R, Haines JL, Farrer LA, Pericak-Vance MA, Schellenberg GD, Alzheimer's Disease Genetics Consortium, Ramirez-Restrepo M, Engel A, Myers AJ, Corneveaux JJ, Huentelman MJ, Dillman A, Cookson MR, Reiman EM, Singleton A, Hardy J, Guerreiro R (2013), “Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci.” Ann Hum Genet 77(2):85-105 Details

Jeon AH, Böhm C, Chen F, Huo H, Ruan X, Ren CH, Ho K, Qamar S, Mathews PM, Fraser PE, Mount HT, St George-Hyslop P, Schmitt-Ulms G (2013), “Interactome analyses of mature ?-secretase complexes reveal distinct molecular environments of presenilin (PS) paralogs and preferential binding of signal peptide peptidase to PS2.” J Biol Chem 288(21):15352-66 Details

Lambert JC, Ibrahim-Verbaas CA, Harold D, Naj AC, Sims R, Bellenguez C, DeStafano AL, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thorton-Wells TA, Jones N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Gerrish A, Schmidt H, Kunkle B, Dunstan ML, Ruiz A, Bihoreau MT, Choi SH, Reitz C, Pasquier F, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Morón FJ, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MW, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuiness B, Larson EB, Green R, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, St George-Hyslop P, Clarimon J, Lleo A, Bayer A, Tsuang DW, Yu L, Tsolaki M, Bossù P, Spalletta G, Proitsi P, Collinge J, Sorbi S, Sanchez-Garcia F, Fox NC, Hardy J, Deniz Naranjo MC, Bosco P, Clarke R, Brayne C, Galimberti D, Mancuso M, Matthews F, European Alzheimer's Disease Initiative (EADI), Genetic (2013), “Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.” Nat Genet 45(12):1452-8 Details

Miyashita A, Koike A, Jun G, Wang LS, Takahashi S, Matsubara E, Kawarabayashi T, Shoji M, Tomita N, Arai H, Asada T, Harigaya Y, Ikeda M, Amari M, Hanyu H, Higuchi S, Ikeuchi T, Nishizawa M, Suga M, Kawase Y, Akatsu H, Kosaka K, Yamamoto T, Imagawa M, Hamaguchi T, Yamada M, Moriaha T, Takeda M, Takao T, Nakata K, Fujisawa Y, Sasaki K, Watanabe K, Nakashima K, Urakami K, Ooya T, Takahashi M, Yuzuriha T, Serikawa K, Yoshimoto S, Nakagawa R, Kim JW, Ki CS, Won HH, Na DL, Seo SW, Mook-Jung I, Alzheimer Disease Genetics Consortium, St George-Hyslop P, Mayeux R, Haines JL, Pericak-Vance MA, Yoshida M, Nishida N, Tokunaga K, Yamamoto K, Tsuji S, Kanazawa I, Ihara Y, Schellenberg GD, Farrer LA, Kuwano R (2013), “SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians.” PLoS One 8(4):e58618 Details

Narayan P, Ganzinger KA, McColl J, Weimann L, Meehan S, Qamar S, Carver JA, Wilson MR, St George-Hyslop P, Dobson CM, Klenerman D (2013), “Single molecule characterization of the interactions between amyloid-? peptides and the membranes of hippocampal cells.” J Am Chem Soc 135(4):1491-8 Details

Riudavets MA, Bartoloni L, Troncoso JC, Pletnikova O, St George-Hyslop P, Schultz M, Sevlever G, Allegri RF (2013), “Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation.” Brain Pathol 23(5):595-600 Details

Steele JW, Lachenmayer ML, Ju S, Stock A, Liken J, Kim SH, Delgado LM, Alfaro IE, Bernales S, Verdile G, Bharadwaj P, Gupta V, Barr R, Friss A, Dolios G, Wang R, Ringe D, Fraser P, Westaway D, St George-Hyslop PH, Szabo P, Relkin NR, Buxbaum JD, Glabe CG, Protter AA, Martins RN, Ehrlich ME, Petsko GA, Yue Z, Gandy S (2013), “Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model.” Mol Psychiatry 18(8):889-97 Details

2012

Barnett C, Grinberg Y, Ghani M, Rogaeva E, Katzberg H, St George-Hyslop P, Bril V (2012), “Fc? receptor polymorphisms do not predict response to intravenous immunoglobulin in myasthenia gravis.” J Clin Neuromuscul Dis 14(1):1-6 Details

Bernardi L, Frangipane F, Smirne N, Colao R, Puccio G, Curcio SA, Mirabelli M, Maletta R, Anfossi M, Gallo M, Geracitano S, Conidi ME, Di Lorenzo R, Clodomiro A, Cupidi C, Marzano S, Comito F, Valenti V, Zirilli MA, Ghani M, Xi Z, Sato C, Moreno D, Borelli A, Leone RA, St George-Hyslop P, Rogaeva E, Bruni AC (2012), “Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.” Neurobiol Aging 33(12):2948.e1-2948.e10 Details

Bettens K, Brouwers N, Engelborghs S, Lambert JC, Rogaeva E, Vandenberghe R, Le Bastard N, Pasquier F, Vermeulen S, Van Dongen J, Mattheijssens M, Peeters K, Mayeux R, St George-Hyslop P, Amouyel P, De Deyn PP, Sleegers K, Van Broeckhoven C (2012), “Both common variations and rare non-synonymous substitutions and small insertion/deletions in CLU are associated with increased Alzheimer risk.” Mol Neurodegener 7:3 Details

Brautigam H, Steele JW, Westaway D, Fraser PE, St George-Hyslop PH, Gandy S, Hof PR, Dickstein DL (2012), “The isotropic fractionator provides evidence for differential loss of hippocampal neurons in two mouse models of Alzheimer's disease.” Mol Neurodegener 7:58 Details

Ghani M, Pinto D, Lee JH, Grinberg Y, Sato C, Moreno D, Scherer SW, Mayeux R, St George-Hyslop P, Rogaeva E (2012), “Genome-wide survey of large rare copy number variants in Alzheimer's disease among Caribbean hispanics.” G3 (Bethesda) 2(1):71-8 Details

Hazrati LN, Van Cauwenberghe C, Brooks PL, Brouwers N, Ghani M, Sato C, Cruts M, Sleegers K, St George-Hyslop P, Van Broeckhoven C, Rogaeva E (2012), “Genetic association of CR1 with Alzheimer's disease: a tentative disease mechanism.” Neurobiol Aging 33(12):2949.e5-2949.e12 Details

Jun G, Moncaster JA, Koutras C, Seshadri S, Buros J, McKee AC, Levesque G, Wolf PA, St George-Hyslop P, Goldstein LE, Farrer LA (2012), “?-Catenin is genetically and biologically associated with cortical cataract and future Alzheimer-related structural and functional brain changes.” PLoS One 7(9):e43728 Details

Lane RF, St George-Hyslop P, Hempstead BL, Small SA, Strittmatter SM, Gandy S (2012), “Vps10 family proteins and the retromer complex in aging-related neurodegeneration and diabetes.” J Neurosci 32(41):14080-6 Details

Lauritzen I, Pardossi-Piquard R, Bauer C, Brigham E, Abraham JD, Ranaldi S, Fraser P, St-George-Hyslop P, Le Thuc O, Espin V, Chami L, Dunys J, Checler F (2012), “The ?-secretase-derived C-terminal fragment of ?APP, C99, but not A?, is a key contributor to early intraneuronal lesions in triple-transgenic mouse hippocampus.” J Neurosci 32(46):16243-55a Details

McLean D, Cooke MJ, Wang Y, Fraser P, St George-Hyslop P, Shoichet MS (2012), “Targeting the amyloid-? antibody in the brain tissue of a mouse model of Alzheimer's disease.” J Control Release 159(2):302-8 Details

Murakami T, Yang SP, Xie L, Kawano T, Fu D, Mukai A, Bohm C, Chen F, Robertson J, Suzuki H, Tartaglia GG, Vendruscolo M, Kaminski Schierle GS, Chan FT, Moloney A, Crowther D, Kaminski CF, Zhen M, St George-Hyslop P (2012), “ALS mutations in FUS cause neuronal dysfunction and death in Caenorhabditis elegans by a dominant gain-of-function mechanism.” Hum Mol Genet 21(1):1-9 Details

Reitz C, Cheng R, Schupf N, Lee JH, Mehta PD, Rogaeva E, St George-Hyslop P, Mayeux R (2012), “Association between variants in IDE-KIF11-HHEX and plasma amyloid ? levels.” Neurobiol Aging 33(1):199.e13-7 Details

Rubino E, Rainero I, Chiò A, Rogaeva E, Galimberti D, Fenoglio P, Grinberg Y, Isaia G, Calvo A, Gentile S, Bruni AC, St George-Hyslop PH, Scarpini E, Gallone S, Pinessi L, TODEM Study Group (2012), “SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.” Neurology 79(15):1556-62 Details

St George-Hyslop P, Fraser PE (2012), “Assembly of the presenilin ?-/?-secretase complex.” J Neurochem 120 Suppl 1:84-8 Details

Vardarajan BN, Bruesegem SY, Harbour ME, Inzelberg R, Friedland R, St George-Hyslop P, Seaman MN, Farrer LA (2012), “Identification of Alzheimer disease-associated variants in genes that regulate retromer function.” Neurobiol Aging 33(9):2231.e15-2231.e30 Details

Xi Z, Zinman L, Grinberg Y, Moreno D, Sato C, Bilbao JM, Ghani M, Hernández I, Ruiz A, Boada M, Morón FJ, Lang AE, Marras C, Bruni A, Colao R, Maletta RG, Puccio G, Rainero I, Pinessi L, Galimberti D, Morrison KE, Moorby C, Stockton JD, Masellis M, Black SE, Hazrati LN, Liang Y, van Haersma de With J, Fornazzari L, Villagra R, Rojas-Garcia R, Clarimón J, Mayeux R, Robertson J, St George-Hyslop P, Rogaeva E (2012), “Investigation of c9orf72 in 4 neurodegenerative disorders.” Arch Neurol 69(12):1583-90 Details

2011

Ehsani S, Huo H, Salehzadeh A, Pocanschi CL, Watts JC, Wille H, Westaway D, Rogaeva E, St George-Hyslop PH, Schmitt-Ulms G (2011), “Family reunion--the ZIP/prion gene family.” Prog Neurobiol 93(3):405-20 Details

Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P, PSP Genetics Study Group, Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD (2011), “Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.” Nat Genet 43(7):699-705 Details

Knobbe CB, Revett TJ, Bai Y, Chow V, Jeon AH, Böhm C, Ehsani S, Kislinger T, Mount HT, Mak TW, St George-Hyslop P, Schmitt-Ulms G (2011), “Choice of biological source material supersedes oxidative stress in its influence on DJ-1 in vivo interactions with Hsp90.” J Proteome Res 10(10):4388-404 Details

Lee JH, Cheng R, Barral S, Reitz C, Medrano M, Lantigua R, Jiménez-Velazquez IZ, Rogaeva E, St George-Hyslop PH, Mayeux R (2011), “Identification of novel loci for Alzheimer disease and replication of CLU, PICALM, and BIN1 in Caribbean Hispanic individuals.” Arch Neurol 68(3):320-8 Details

Naj AC, Jun G, Beecham GW, Wang LS, Vardarajan BN, Buros J, Gallins PJ, Buxbaum JD, Jarvik GP, Crane PK, Larson EB, Bird TD, Boeve BF, Graff-Radford NR, De Jager PL, Evans D, Schneider JA, Carrasquillo MM, Ertekin-Taner N, Younkin SG, Cruchaga C, Kauwe JS, Nowotny P, Kramer P, Hardy J, Huentelman MJ, Myers AJ, Barmada MM, Demirci FY, Baldwin CT, Green RC, Rogaeva E, St George-Hyslop P, Arnold SE, Barber R, Beach T, Bigio EH, Bowen JD, Boxer A, Burke JR, Cairns NJ, Carlson CS, Carney RM, Carroll SL, Chui HC, Clark DG, Corneveaux J, Cotman CW, Cummings JL, DeCarli C, DeKosky ST, Diaz-Arrastia R, Dick M, Dickson DW, Ellis WG, Faber KM, Fallon KB, Farlow MR, Ferris S, Frosch MP, Galasko DR, Ganguli M, Gearing M, Geschwind DH, Ghetti B, Gilbert JR, Gilman S, Giordani B, Glass JD, Growdon JH, Hamilton RL, Harrell LE, Head E, Honig LS, Hulette CM, Hyman BT, Jicha GA, Jin LW, Johnson N, Karlawish J, Karydas A, Kaye JA, Kim R, Koo EH, Kowall NW, Lah JJ, Levey AI, Lieberman AP, Lopez OL, Mack WJ, Marson DC, Martiniuk (2011), “Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease.” Nat Genet 43(5):436-41 Details

Pettersen JA, Patry DG, St George-Hyslop PH, Curry B (2011), “Variant Alzheimer disease with spastic paraparesis: a rare presenilin-1 mutation.” Can J Neurol Sci 38(4):659-61 Details

Reitz C, Cheng R, Rogaeva E, Lee JH, Tokuhiro S, Zou F, Bettens K, Sleegers K, Tan EK, Kimura R, Shibata N, Arai H, Kamboh MI, Prince JA, Maier W, Riemenschneider M, Owen M, Harold D, Hollingworth P, Cellini E, Sorbi S, Nacmias B, Takeda M, Pericak-Vance MA, Haines JL, Younkin S, Williams J, van Broeckhoven C, Farrer LA, St George-Hyslop PH, Mayeux R, Genetic and Environmental Risk in Alzheimer Disease 1 Consortium (2011), “Meta-analysis of the association between variants in SORL1 and Alzheimer disease.” Arch Neurol 68(1):99-106 Details

Yang DS, Stavrides P, Mohan PS, Kaushik S, Kumar A, Ohno M, Schmidt SD, Wesson D, Bandyopadhyay U, Jiang Y, Pawlik M, Peterhoff CM, Yang AJ, Wilson DA, St George-Hyslop P, Westaway D, Mathews PM, Levy E, Cuervo AM, Nixon RA (2011), “Reversal of autophagy dysfunction in the TgCRND8 mouse model of Alzheimer's disease ameliorates amyloid pathologies and memory deficits.” Brain 134(Pt 1):258-77 Details

Yang DS, Stavrides P, Mohan PS, Kaushik S, Kumar A, Ohno M, Schmidt SD, Wesson DW, Bandyopadhyay U, Jiang Y, Pawlik M, Peterhoff CM, Yang AJ, Wilson DA, St George-Hyslop P, Westaway D, Mathews PM, Levy E, Cuervo AM, Nixon RA (2011), “Therapeutic effects of remediating autophagy failure in a mouse model of Alzheimer disease by enhancing lysosomal proteolysis.” Autophagy 7(7):788-9 Details

2010

Bruni AC, Bernardi L, Colao R, Rubino E, Smirne N, Frangipane F, Terni B, Curcio SA, Mirabelli M, Clodomiro A, Di Lorenzo R, Maletta R, Anfossi M, Gallo M, Geracitano S, Tomaino C, Muraca MG, Leotta A, Lio SG, Pinessi L, Rainero I, Sorbi S, Nee L, Milan G, Pappatà S, Postiglione A, Abbamondi N, Forloni G, St George Hyslop P, Rogaeva E, Bugiani O, Giaccone G, Foncin JF, Spillantini MG, Puccio G (2010), “Worldwide distribution of PSEN1 Met146Leu mutation: a large variability for a founder mutation.” Neurology 74(10):798-806 Details

Butler R, Beattie BL, Thong UP, Dwosh E, Guimond C, Feldman HH, Hsiung GY, Rogaeva E, St George-Hyslop P, Sadovnick AD (2010), “A novel PS1 gene mutation in a large Aboriginal kindred.” Can J Neurol Sci 37(3):359-64 Details

Gabryelewicz T, Masellis M, Berdynski M, Bilbao JM, Rogaeva E, St George-Hyslop P, Barczak A, Czyzewski K, Barcikowska M, Wszolek Z, Black SE, Zekanowski C (2010), “Intra-familial clinical heterogeneity due to FTLD-U with TDP-43 proteinopathy caused by a novel deletion in progranulin gene (PGRN).” J Alzheimers Dis 22(4):1123-33 Details

Harwood DG, Kalechstein A, Barker WW, Strauman S, St George-Hyslop P, Iglesias C, Loewenstein D, Duara R (2010), “The effect of alcohol and tobacco consumption, and apolipoprotein E genotype, on the age of onset in Alzheimer's disease.” Int J Geriatr Psychiatry 25(5):511-8 Details

Jin H, Sanjo N, Uchihara T, Watabe K, St George-Hyslop P, Fraser PE, Mizusawa H (2010), “Presenilin-1 holoprotein is an interacting partner of sarco endoplasmic reticulum calcium-ATPase and confers resistance to endoplasmic reticulum stress.” J Alzheimers Dis 20(1):261-73 Details

Jun G, Naj AC, Beecham GW, Wang LS, Buros J, Gallins PJ, Buxbaum JD, Ertekin-Taner N, Fallin MD, Friedland R, Inzelberg R, Kramer P, Rogaeva E, St George-Hyslop P, Alzheimer's Disease Genetics Consortium, Cantwell LB, Dombroski BA, Saykin AJ, Reiman EM, Bennett DA, Morris JC, Lunetta KL, Martin ER, Montine TJ, Goate AM, Blacker D, Tsuang DW, Beekly D, Cupples LA, Hakonarson H, Kukull W, Foroud TM, Haines J, Mayeux R, Farrer LA, Pericak-Vance MA, Schellenberg GD (2010), “Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes.” Arch Neurol 67(12):1473-84 Details

Kim SH, Fraser PE, Westaway D, St George-Hyslop PH, Ehrlich ME, Gandy S (2010), “Group II metabotropic glutamate receptor stimulation triggers production and release of Alzheimer's amyloid(beta)42 from isolated intact nerve terminals.” J Neurosci 30(11):3870-5 Details

Orlacchio A, Babalini C, Borreca A, Patrono C, Massa R, Basaran S, Munhoz RP, Rogaeva EA, St George-Hyslop PH, Bernardi G, Kawarai T (2010), “SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.” Brain 133(Pt 2):591-8 Details

Pollen DA, Baker S, Hinerfeld D, Swearer J, Evans BA, Evans JE, Caselli R, Rogaeva E, St George-Hyslop P, Moonis M (2010), “Prevention of Alzheimer's disease in high risk groups: statin therapy in subjects with PSEN1 mutations or heterozygosity for apolipoprotein E epsilon 4.” Alzheimers Res Ther 2(5):31 Details

Sanjo N, Katayama T, Hasegawa H, Jin H, Duthie M, Mount HT, Mizusawa H, St George-Hyslop P, Fraser PE (2010), “Localization and trafficking of endogenous anterior pharynx-defective 1, a component of Alzheimer's disease related gamma-secretase.” Neurosci Lett 483(1):53-6 Details

St George-Hyslop P, Schmitt-Ulms G (2010), “Alzheimer's disease: Selectively tuning gamma-secretase.” Nature 467(7311):36-7 Details

2009

Evans BA, Evans JE, Baker SP, Kane K, Swearer J, Hinerfeld D, Caselli R, Rogaeva E, St George-Hyslop P, Moonis M, Pollen DA (2009), “Long-term statin therapy and CSF cholesterol levels: implications for Alzheimer's disease.” Dement Geriatr Cogn Disord 27(6):519-24 Details

Mayeux R, St George-Hyslop P (2009), “Brain traffic: subcellular transport of the amyloid precursor protein.” Arch Neurol 66(4):433-4 Details

Pardossi-Piquard R, Böhm C, Chen F, Kanemoto S, Checler F, Schmitt-Ulms G, St George-Hyslop P, Fraser PE (2009), “TMP21 transmembrane domain regulates gamma-secretase cleavage.” J Biol Chem 284(42):28634-41 Details

Pardossi-Piquard R, Dunys J, Giaime E, Guillot-Sestier MV, St George-Hyslop P, Checler F, Alves da Costa C (2009), “p53-Dependent control of cell death by nicastrin: lack of requirement for presenilin-dependent gamma-secretase complex.” J Neurochem 109(1):225-37 Details

Pardossi-Piquard R, Yang SP, Kanemoto S, Gu Y, Chen F, Böhm C, Sevalle J, Li T, Wong PC, Checler F, Schmitt-Ulms G, St George-Hyslop P, Fraser PE (2009), “APH1 polar transmembrane residues regulate the assembly and activity of presenilin complexes.” J Biol Chem 284(24):16298-307 Details

Vincent B, Sunyach C, Orzechowski HD, St George-Hyslop P, Checler F (2009), “p53-Dependent transcriptional control of cellular prion by presenilins.” J Neurosci 29(20):6752-60 Details

2008

Bai Y, Markham K, Chen F, Weerasekera R, Watts J, Horne P, Wakutani Y, Bagshaw R, Mathews PM, Fraser PE, Westaway D, St George-Hyslop P, Schmitt-Ulms G (2008), “The in vivo brain interactome of the amyloid precursor protein.” Mol Cell Proteomics 7(1):15-34 Details

Dolcini V, Dunys J, Sevalle J, Chen F, Guillot-Sestier MV, St George-Hyslop P, Fraser PE, Checler F (2008), “TMP21 regulates Abeta production but does not affect caspase-3, p53, and neprilysin.” Biochem Biophys Res Commun 371(1):69-74 Details

Lee JH, Barral S, Cheng R, Chacon I, Santana V, Williamson J, Lantigua R, Medrano M, Jimenez-Velazquez IZ, Stern Y, Tycko B, Rogaeva E, Wakutani Y, Kawarai T, St George-Hyslop P, Mayeux R (2008), “Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease.” Neurogenetics 9(1):51-60 Details

Lee JH, Cheng R, Rogaeva E, Meng Y, Stern Y, Santana V, Lantigua R, Medrano M, Jimenez-Velazquez IZ, Farrer LA, St George-Hyslop P, Mayeux R (2008), “Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease.” Neurogenetics 9(2):127-138 Details

Li H, Wetten S, Li L, St Jean PL, Upmanyu R, Surh L, Hosford D, Barnes MR, Briley JD, Borrie M, Coletta N, Delisle R, Dhalla D, Ehm MG, Feldman HH, Fornazzari L, Gauthier S, Goodgame N, Guzman D, Hammond S, Hollingworth P, Hsiung GY, Johnson J, Kelly DD, Keren R, Kertesz A, King KS, Lovestone S, Loy-English I, Matthews PM, Owen MJ, Plumpton M, Pryse-Phillips W, Prinjha RK, Richardson JC, Saunders A, Slater AJ, St George-Hyslop PH, Stinnett SW, Swartz JE, Taylor RL, Wherrett J, Williams J, Yarnall DP, Gibson RA, Irizarry MC, Middleton LT, Roses AD (2008), “Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease.” Arch Neurol 65(1):45-53 Details

Lindquist SG, Hasholt L, Bahl JM, Heegaard NH, Andersen BB, Nørremølle A, Stokholm J, Schwartz M, Batbayli M, Laursen H, Pardossi-Piquard R, Chen F, St George-Hyslop P, Waldemar G, Nielsen JE (2008), “A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment.” Eur J Neurol 15(10):1135-9 Details

Liu XQ, Paterson AD, He N, St George-Hyslop P, Rauta V, Gronhagen-Riska C, Laakso M, Thibaudin L, Berthoux F, Cattran D, Pei Y (2008), “IL5RA and TNFRSF6B gene variants are associated with sporadic IgA nephropathy.” J Am Soc Nephrol 19(5):1025-33 Details

Orlacchio A, Bruce IN, Rahman P, Kawarai T, Bernardi G, St George-Hyslop PH, Gladman DD, Urowitz MB (2008), “The apolipoprotein E2 isoform is associated with accelerated onset of coronary artery disease in systemic lupus erythematosus.” Med Sci Monit 14(5):CR233-237 Details

Pettersen JA, Sathiyamoorthy G, Gao FQ, Szilagyi G, Nadkarni NK, St George-Hyslop P, Rogaeva E, Black SE (2008), “Microbleed topography, leukoaraiosis, and cognition in probable Alzheimer disease from the Sunnybrook dementia study.” Arch Neurol 65(6):790-5 Details

St George-Hyslop P, Haass C (2008), “Regulatory RNA goes awry in Alzheimer's disease.” Nat Med 14(7):711-2 Details

St George-Hyslop PH, Morris JC (2008), “Will anti-amyloid therapies work for Alzheimer's disease?” Lancet 372(9634):180-2 Details

T Cuenco K, Lunetta KL, Baldwin CT, McKee AC, Guo J, Cupples LA, Green RC, St George-Hyslop PH, Chui H, DeCarli C, Farrer LA, MIRAGE Study Group (2008), “Association of distinct variants in SORL1 with cerebrovascular and neurodegenerative changes related to Alzheimer disease.” Arch Neurol 65(12):1640-8 Details

Tamboli IY, Prager K, Thal DR, Thelen KM, Dewachter I, Pietrzik CU, St George-Hyslop P, Sisodia SS, De Strooper B, Heneka MT, Filippov MA, Müller U, van Leuven F, Lütjohann D, Walter J (2008), “Loss of gamma-secretase function impairs endocytosis of lipoprotein particles and membrane cholesterol homeostasis.” J Neurosci 28(46):12097-106 Details

2007

Brijbassi S, Amtul Z, Newbigging S, Westaway D, St George-Hyslop P, Rozmahel RF (2007), “Excess of nicastrin in brain results in heterozygosity having no effect on endogenous APP processing and amyloid peptide levels in vivo.” Neurobiol Dis 25(2):291-6 Details

Bruni AC, Momeni P, Bernardi L, Tomaino C, Frangipane F, Elder J, Kawarai T, Sato C, Pradella S, Wakutani Y, Anfossi M, Gallo M, Geracitano S, Costanzo A, Smirne N, Curcio SA, Mirabelli M, Puccio G, Colao R, Maletta RG, Kertesz A, St George-Hyslop P, Hardy J, Rogaeva E (2007), “Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.” Neurology 69(2):140-7 Details

Checler F, Sunyach C, Pardossi-Piquard R, Sévalle J, Vincent B, Kawarai T, Girardot N, St George-Hyslop P, da Costa CA (2007), “The gamma/epsilon-secretase-derived APP intracellular domain fragments regulate p53.” Curr Alzheimer Res 4(4):423-6 Details

Dunys J, Kawarai T, Giaime E, Wilk S, Herrant M, Auberger P, St George-Hyslop P, Alves da Costa C, Checler F (2007), “Study on the putative contribution of caspases and the proteasome to the degradation of Aph-1a and Pen-2.” Neurodegener Dis 4(2-3):156-63 Details

Hinerfeld DA, Moonis M, Swearer JM, Baker SP, Caselli RJ, Rogaeva E, St George-Hyslop P, Pollen DA (2007), “Statins differentially affect amyloid precursor protein metabolism in presymptomatic PS1 and non-PS1 subjects.” Arch Neurol 64(11):1672-3 Details

Lee JH, Cheng R, Schupf N, Manly J, Lantigua R, Stern Y, Rogaeva E, Wakutani Y, Farrer L, St George-Hyslop P, Mayeux R (2007), “The association between genetic variants in SORL1 and Alzheimer disease in an urban, multiethnic, community-based cohort.” Arch Neurol 64(4):501-6 Details

Matsui M, Kawarai T, Hase Y, Tomimoto H, Iseki K, Rogaeva E, Orlacchio A, Bernardi G, St George-Hyslop P, Takahashi R, Matsui M (2007), “A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.” J Neurol 254(7):972-4 Details

Meng Y, Lee JH, Cheng R, St George-Hyslop P, Mayeux R, Farrer LA (2007), “Association between SORL1 and Alzheimer's disease in a genome-wide study.” Neuroreport 18(17):1761-4 Details

Pardossi-Piquard R, Chen F, Silva-Gagliardi NF, Szego M, McInnes R, McGlade CJ, St George-Hyslop P, Fraser PE (2007), “Overexpression of human CRB1 or related isoforms, CRB2 and CRB3, does not regulate the human presenilin complex in culture cells.” Biochemistry 46(48):13704-10 Details

Pardossi-Piquard R, Dunys J, Kawarai T, Sunyach C, Alves da Costa C, Vincent B, Sévalle J, Pimplikar S, St George-Hyslop P, Checler F (2007), “Response to correspondence: Pardossi-Piquard et al., "Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betAAPP and APLP." Neuron 46, 541-554.” Neuron 53(4):483-6 Details

Paterson AD, Liu XQ, Wang K, Magistroni R, Song X, Kappel J, Klassen J, Cattran D, St George-Hyslop P, Pei Y (2007), “Genome-wide linkage scan of a large family with IgA nephropathy localizes a novel susceptibility locus to chromosome 2q36.” J Am Soc Nephrol 18(8):2408-15 Details

Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, Wakutani Y, Cupples LA, Cuenco KT, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland RP, Inzelberg R, Hampe W, Bujo H, Song YQ, Andersen OM, Willnow TE, Graff-Radford N, Petersen RC, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P (2007), “The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease.” Nat Genet 39(2):168-77 Details

2006

Alves da Costa C, Sunyach C, Pardossi-Piquard R, Sévalle J, Vincent B, Boyer N, Kawarai T, Girardot N, St George-Hyslop P, Checler F (2006), “Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease.” J Neurosci 26(23):6377-85 Details

Bernardi L, Maletta RG, Tomaino C, Smirne N, Di Natale M, Perri M, Longo T, Colao R, Curcio SA, Puccio G, Mirabelli M, Kawarai T, Rogaeva E, St George Hyslop PH, Passarino G, De Benedictis G, Bruni AC (2006), “The effects of APOE and tau gene variability on risk of frontotemporal dementia.” Neurobiol Aging 27(5):702-9 Details

Burgess BL, McIsaac SA, Naus KE, Chan JY, Tansley GH, Yang J, Miao F, Ross CJ, van Eck M, Hayden MR, van Nostrand W, St George-Hyslop P, Westaway D, Wellington CL (2006), “Elevated plasma triglyceride levels precede amyloid deposition in Alzheimer's disease mouse models with abundant A beta in plasma.” Neurobiol Dis 24(1):114-27 Details

Chen F, Hasegawa H, Schmitt-Ulms G, Kawarai T, Bohm C, Katayama T, Gu Y, Sanjo N, Glista M, Rogaeva E, Wakutani Y, Pardossi-Piquard R, Ruan X, Tandon A, Checler F, Marambaud P, Hansen K, Westaway D, St George-Hyslop P, Fraser P (2006), “TMP21 is a presenilin complex component that modulates gamma-secretase but not epsilon-secretase activity.” Nature 440(7088):1208-12 Details

Chishti MA, Bohlega S, Ahmed M, Loualich A, Carroll P, Sato C, St George-Hyslop P, Westaway D, Rogaeva E (2006), “T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease.” Arch Neurol 63(10):1483-5 Details

Dunys J, Kawarai T, Wilk S, St George-Hyslop P, Alves da Costa C, Checler F (2006), “Catabolism of endogenous and overexpressed APH1a and PEN2: evidence for artifactual involvement of the proteasome in the degradation of overexpressed proteins.” Biochem J 394(Pt 2):501-9 Details

Kaneko S, Kawarai T, Yip E, Salehi-Rad S, Sato C, Orlacchio A, Bernardi G, Liang Y, Hasegawa H, Rogaeva E, St George-Hyslop P (2006), “Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.” Mov Disord 21(9):1531-3 Details

Klünemann HH, Fronhöfer W, Werner-Füchtenbusch D, Grasbon-Frodl E, Kloiber S, Wurster HW, St George-Hyslop PH, Rogaeva E (2006), “Characterization of the kindred of Alois Alzheimer's patient with plaque-only dementia.” Alzheimer Dis Assoc Disord 20(4):291-4 Details

Lee JH, Cheng R, Santana V, Williamson J, Lantigua R, Medrano M, Arriaga A, Stern Y, Tycko B, Rogaeva E, Wakutani Y, Kawarai T, St George-Hyslop P, Mayeux R (2006), “Expanded genomewide scan implicates a novel locus at 3q28 among Caribbean hispanics with familial Alzheimer disease.” Arch Neurol 63(11):1591-8 Details

Li Y, Chu LW, Chen YQ, Cheung BM, Leung RY, Yik PY, Ng KM, Mak W, Jin DY, St George-Hyslop P, Song YQ (2006), “Intron 2 (T/C) CYP46 polymorphism is associated with Alzheimer's disease in Chinese patients.” Dement Geriatr Cogn Disord 22(5-6):399-404 Details

Masellis M, Momeni P, Meschino W, Heffner R Jr, Elder J, Sato C, Liang Y, St George-Hyslop P, Hardy J, Bilbao J, Black S, Rogaeva E (2006), “Novel splicing mutation in the progranulin gene causing familial corticobasal syndrome.” Brain 129(Pt 11):3115-23 Details

McLaurin J, Kierstead ME, Brown ME, Hawkes CA, Lambermon MH, Phinney AL, Darabie AA, Cousins JE, French JE, Lan MF, Chen F, Wong SS, Mount HT, Fraser PE, Westaway D, St George-Hyslop P (2006), “Cyclohexanehexol inhibitors of Abeta aggregation prevent and reverse Alzheimer phenotype in a mouse model.” Nat Med 12(7):801-8 Details

Momeni P, Rogaeva E, Van Deerlin V, Yuan W, Grafman J, Tierney M, Huey E, Bell J, Morris CM, Kalaria RN, van Rensburg SJ, Niehaus D, Potocnik F, Kawarai T, Salehi-Rad S, Sato C, St George-Hyslop P, Hardy J (2006), “Genetic variability in CHMP2B and frontotemporal dementia.” Neurodegener Dis 3(3):129-33 Details

Momeni P, Schymick J, Jain S, Cookson MR, Cairns NJ, Greggio E, Greenway MJ, Berger S, Pickering-Brown S, Chiò A, Fung HC, Holtzman DM, Huey ED, Wassermann EM, Adamson J, Hutton ML, Rogaeva E, St George-Hyslop P, Rothstein JD, Hardiman O, Grafman J, Singleton A, Hardy J, Traynor BJ (2006), “Analysis of IFT74 as a candidate gene for chromosome 9p-linked ALS-FTD.” BMC Neurol 6:44 Details

Munhoz RP, Kawarai T, Teive HA, Raskin S, Sato C, Liang Y, St George-Hyslop PH, Rogaeva E (2006), “Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus).” Mov Disord 21(2):279-81 Details

Murakami T, Paitel E, Kawarabayashi T, Ikeda M, Chishti MA, Janus C, Matsubara E, Sasaki A, Kawarai T, Phinney AL, Harigaya Y, Horne P, Egashira N, Mishima K, Hanna A, Yang J, Iwasaki K, Takahashi M, Fujiwara M, Ishiguro K, Bergeron C, Carlson GA, Abe K, Westaway D, St George-Hyslop P, Shoji M (2006), “Cortical neuronal and glial pathology in TgTauP301L transgenic mice: neuronal degeneration, memory disturbance, and phenotypic variation.” Am J Pathol 169(4):1365-75 Details

Nguyen V, Hawkins C, Bergeron C, Supala A, Huang J, Westaway D, St George-Hyslop P, Rozmahel R (2006), “Loss of nicastrin elicits an apoptotic phenotype in mouse embryos.” Brain Res 1086(1):76-84 Details

Pardossi-Piquard R, Dunys J, Yu G, St George-Hyslop P, Alves da Costa C, Checler F (2006), “Neprilysin activity and expression are controlled by nicastrin.” J Neurochem 97(4):1052-6 Details

Rogaeva E, Zadikoff C, Ponesse J, Schmitt-Ulms G, Kawarai T, Sato C, Salehi-Rad S, St George-Hyslop P, Lang AE (2006), “Childhood onset in familial prion disease with a novel mutation in the PRNP gene.” Arch Neurol 63(7):1016-21 Details

Samura E, Shoji M, Kawarabayashi T, Sasaki A, Matsubara E, Murakami T, Wuhua X, Tamura S, Ikeda M, Ishiguro K, Saido TC, Westaway D, St George Hyslop P, Harigaya Y, Abe K (2006), “Enhanced accumulation of tau in doubly transgenic mice expressing mutant betaAPP and presenilin-1.” Brain Res 1094(1):192-9 Details

Shibata N, Kawarai T, Lee JH, Lee HS, Shibata E, Sato C, Liang Y, Duara R, Mayeux RP, St George-Hyslop PH, Rogaeva E (2006), “Association studies of cholesterol metabolism genes (CH25H, ABCA1 and CH24H) in Alzheimer's disease.” Neurosci Lett 391(3):142-6 Details

Uchihara T, Sanjo N, Nakamura A, Han K, Song SY, St George-Hyslop P, Fraser PE (2006), “Transient abundance of presenilin 1 fragments/nicastrin complex associated with synaptogenesis during development in rat cerebellum.” Neurobiol Aging 27(1):88-97 Details

Wislet-Gendebien S, D'Souza C, Kawarai T, St George-Hyslop P, Westaway D, Fraser P, Tandon A (2006), “Cytosolic proteins regulate alpha-synuclein dissociation from presynaptic membranes.” J Biol Chem 281(43):32148-55 Details

Zadikoff C, Rogaeva E, Djarmati A, Sato C, Salehi-Rad S, St George-Hyslop P, Klein C, Lang AE (2006), “Homozygous and heterozygous PINK1 mutations: considerations for diagnosis and care of Parkinson's disease patients.” Mov Disord 21(6):875-9 Details

2005

Checler F, Alves da Costa C, Ayral E, Andrau D, Dumanchin C, Farzan M, Hernandez JF, Martinez J, Lefranc-Jullien S, Marambaud P, Pasini A, Petit A, Phiel C, Robert P, St George-Hyslop P, Wilk S (2005), “JLK inhibitors: isocoumarin compounds as putative probes to selectively target the gamma-secretase pathway.” Curr Alzheimer Res 2(3):327-34 Details

Edwards-Lee T, Ringman JM, Chung J, Werner J, Morgan A, St George Hyslop P, Thompson P, Dutton R, Mlikotic A, Rogaeva E, Hardy J (2005), “An African American family with early-onset Alzheimer disease and an APP (T714I) mutation.” Neurology 64(2):377-9 Details

Ikeda M, Shoji M, Kawarai T, Kawarabayashi T, Matsubara E, Murakami T, Sasaki A, Tomidokoro Y, Ikarashi Y, Kuribara H, Ishiguro K, Hasegawa M, Yen SH, Chishti MA, Harigaya Y, Abe K, Okamoto K, St George-Hyslop P, Westaway D (2005), “Accumulation of filamentous tau in the cerebral cortex of human tau R406W transgenic mice.” Am J Pathol 166(2):521-31 Details

Mastrangelo P, Mathews PM, Chishti MA, Schmidt SD, Gu Y, Yang J, Mazzella MJ, Coomaraswamy J, Horne P, Strome B, Pelly H, Levesque G, Ebeling C, Jiang Y, Nixon RA, Rozmahel R, Fraser PE, St George-Hyslop P, Carlson GA, Westaway D (2005), “Dissociated phenotypes in presenilin transgenic mice define functionally distinct gamma-secretases.” Proc Natl Acad Sci U S A 102(25):8972-7 Details

Moonis M, Swearer JM, Dayaw MP, St George-Hyslop P, Rogaeva E, Kawarai T, Pollen DA (2005), “Familial Alzheimer disease: decreases in CSF Abeta42 levels precede cognitive decline.” Neurology 65(2):323-5 Details

Nakaya Y, Yamane T, Shiraishi H, Wang HQ, Matsubara E, Sato T, Dolios G, Wang R, De Strooper B, Shoji M, Komano H, Yanagisawa K, Ihara Y, Fraser P, St George-Hyslop P, Nishimura M (2005), “Random mutagenesis of presenilin-1 identifies novel mutants exclusively generating long amyloid beta-peptides.” J Biol Chem 280(19):19070-7 Details

Orlacchio A, Kawarai T, Gaudiello F, St George-Hyslop PH, Floris R, Bernardi G (2005), “New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1.” Ann Neurol 58(3):423-9 Details

Orlacchio A, Kawarai T, Gaudiello F, Totaro A, Schillaci O, Stefani A, Floris R, St George-Hyslop PH, Sorbi S, Bernardi G (2005), “Clinical and genetic study of a large SPG4 Italian family.” Mov Disord 20(8):1055-9 Details

Paisán-Ruíz C, Lang AE, Kawarai T, Sato C, Salehi-Rad S, Fisman GK, Al-Khairallah T, St George-Hyslop P, Singleton A, Rogaeva E (2005), “LRRK2 gene in Parkinson disease: mutation analysis and case control association study.” Neurology 65(5):696-700 Details

Pardossi-Piquard R, Petit A, Kawarai T, Sunyach C, Alves da Costa C, Vincent B, Ring S, D'Adamio L, Shen J, Müller U, St George Hyslop P, Checler F (2005), “Presenilin-dependent transcriptional control of the Abeta-degrading enzyme neprilysin by intracellular domains of betaAPP and APLP.” Neuron 46(4):541-54 Details

Paterson AD, Magistroni R, He N, Wang K, Johnson A, Fain PR, Dicks E, Parfrey P, St George-Hyslop P, Pei Y (2005), “Progressive loss of renal function is an age-dependent heritable trait in type 1 autosomal dominant polycystic kidney disease.” J Am Soc Nephrol 16(3):755-62 Details

Petit A, Kawarai T, Paitel E, Sanjo N, Maj M, Scheid M, Chen F, Gu Y, Hasegawa H, Salehi-Rad S, Wang L, Rogaeva E, Fraser P, Robinson B, St George-Hyslop P, Tandon A (2005), “Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations.” J Biol Chem 280(40):34025-32 Details

Sato C, Morgan A, Lang AE, Salehi-Rad S, Kawarai T, Meng Y, Ray PN, Farrer LA, St George-Hyslop P, Rogaeva E (2005), “Analysis of the glucocerebrosidase gene in Parkinson's disease.” Mov Disord 20(3):367-70 Details

St George-Hyslop PH, Petit A (2005), “Molecular biology and genetics of Alzheimer's disease.” C R Biol 328(2):119-30 Details

Tian X, Cecal R, McLaurin J, Manea M, Stefanescu R, Grau S, Harnasch M, Amir S, Ehrmann M, St George-Hyslop P, Kohlmann M, Przybylski M (2005), “Identification and structural characterisation of carboxy-terminal polypeptides and antibody epitopes of Alzheimer's amyloid precursor protein using high-resolution mass spectrometry.” Eur J Mass Spectrom (Chichester, Eng) 11(5):547-56 Details

Tuite PJ, Clark HB, Bergeron C, Bower M, St George-Hyslop P, Mateva V, Anderson J, Knopman DS (2005), “Clinical and pathologic evidence of corticobasal degeneration and progressive supranuclear palsy in familial tauopathy.” Arch Neurol 62(9):1453-7 Details

2004

Alves da Costa C, Ayral E, Hernandez JF, St George-Hyslop P, Checler F (2004), “Presenilin-directed inhibitors of gamma-secretase trigger caspase 3 activation in presenilin-expressing and presenilin-deficient cells.” J Neurochem 90(4):800-6 Details

Bruni AC, Kawarai T, Spillantini MG, St-George Hyslop PH, Leotta A, Lio S, Foncin JF, El Hachimi KH (2004), “[Familial fronto-temporal dementia with brain stem ubiquitin-positive neuronal inclusions].” Rev Neurol (Paris) 160(12):1171-9 Details

Carter TL, Verdile G, Groth D, Bogush A, Thomas S, Shen P, Fraser PE, Mathews P, Nixon RA, Ehrlich ME, Kwok JB, St George-Hyslop P, Schofield P, Li Y, Yang A, Martins RN, Gandy S (2004), “Alzheimer amyloid precursor aspartyl proteinase activity in CHAPSO homogenates of Spodoptera frugiperda cells.” Alzheimer Dis Assoc Disord 18(4):261-3 Details

Cui JG, Fraser PE, St George-Hyslop P, Westaway D, Lukiw WJ (2004), “Potential roles for presenilin-1 in oxygen sensing and in glial-specific gene expression.” Neuroreport 15(13):2025-8 Details

Gandy S, DeMattos RB, Lemere CA, Heppner FL, Leverone J, Aguzzi A, Ershler WB, Dai J, Fraser P, St George Hyslop P, Holtzman DM, Walker LC, Keller ET (2004), “Alzheimer's Abeta vaccination of rhesus monkeys (Macaca mulatta).” Mech Ageing Dev 125(2):149-51 Details

Gelinas DS, DaSilva K, Fenili D, St George-Hyslop P, McLaurin J (2004), “Immunotherapy for Alzheimer's disease.” Proc Natl Acad Sci U S A 101 Suppl 2:14657-62 Details

Groen JL, Kawarai T, Toulina A, Rivoiro C, Salehi-Rad S, Sato C, Morgan A, Liang Y, Postuma RB, St George-Hyslop P, Lang AE, Rogaeva E (2004), “Genetic association study of PINK1 coding polymorphisms in Parkinson's disease.” Neurosci Lett 372(3):226-9 Details

Gu Y, Sanjo N, Chen F, Hasegawa H, Petit A, Ruan X, Li W, Shier C, Kawarai T, Schmitt-Ulms G, Westaway D, St George-Hyslop P, Fraser PE (2004), “The presenilin proteins are components of multiple membrane-bound complexes that have different biological activities.” J Biol Chem 279(30):31329-36 Details

Harwood DG, Barker WW, Ownby RL, St George-Hyslop P, Mullan M, Duara R (2004), “Apolipoprotein E polymorphism and age of onset for Alzheimer's disease in a bi-ethnic sample.” Int Psychogeriatr 16(3):317-26 Details

Hasegawa H, Sanjo N, Chen F, Gu YJ, Shier C, Petit A, Kawarai T, Katayama T, Schmidt SD, Mathews PM, Schmitt-Ulms G, Fraser PE, St George-Hyslop P (2004), “Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes.” J Biol Chem 279(45):46455-63 Details

Janus C, Welzl H, Hanna A, Lovasic L, Lane N, St George-Hyslop P, Westaway D (2004), “Impaired conditioned taste aversion learning in APP transgenic mice.” Neurobiol Aging 25(9):1213-9 Details

Johnson J, Ostojic J, Lannfelt L, Glaser A, Basun H, Rogaeva E, Kawarai T, Bruni A, St George Hyslop PH, Goate A, Pastor P, Chakraverty S, Norton J, Morris JC, Hardy J, Singleton A (2004), “No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found.” Neurosci Lett 363(2):99-101 Details

Klünemann HH, Rogaeva E, Neumann M, Kretzschmar HA, Kandel M, Toulina A, Sato C, Salehi-Rad S, Pfister K, Klein HE, St George-Hyslop PH (2004), “Novel PS1 mutation in a Bavarian kindred with familial Alzheimer disease.” Alzheimer Dis Assoc Disord 18(4):256-8 Details

Lee JH, Mayeux R, Mayo D, Mo J, Santana V, Williamson J, Flaquer A, Ciappa A, Rondon H, Estevez P, Lantigua R, Kawarai T, Toulina A, Medrano M, Torres M, Stern Y, Tycko B, Rogaeva E, St George-Hyslop P, Knowles JA (2004), “Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics.” Mol Psychiatry 9(11):1042-51 Details

Luis CA, Barker WW, Loewenstein DA, Crum TA, Rogaeva E, Kawarai T, St George-Hyslop P, Duara R (2004), “Conversion to dementia among two groups with cognitive impairment. A preliminary report.” Dement Geriatr Cogn Disord 18(3-4):307-13 Details

Orlacchio A, Gaudiello F, Totaro A, Floris R, St George-Hyslop PH, Bernardi G, Kawarai T (2004), “A new SPG4 mutation in a variant form of spastic paraplegia with congenital arachnoid cysts.” Neurology 62(10):1875-8 Details

Orlacchio A, Kawarai T, Polidoro M, Paterson AD, Rogaeva E, Orlacchio A, St George-Hyslop PH, Bernardi G (2004), “Lack of association between Alzheimer's disease and the promoter region polymorphisms of the nicastrin gene.” Neurosci Lett 363(1):49-53 Details

Orlacchio A, Kawarai T, Totaro A, Errico A, St George-Hyslop PH, Rugarli EI, Bernardi G (2004), “Hereditary spastic paraplegia: clinical genetic study of 15 families.” Arch Neurol 61(6):849-55 Details

Peltekova VD, Wintle RF, Rubin LA, Amos CI, Huang Q, Gu X, Newman B, Van Oene M, Cescon D, Greenberg G, Griffiths AM, St George-Hyslop PH, Siminovitch KA (2004), “Functional variants of OCTN cation transporter genes are associated with Crohn disease.” Nat Genet 36(5):471-5 Details

Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB (2004), “Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.” Arch Neurol 61(12):1898-904 Details

Verdile G, Groth D, Mathews PM, St George-Hyslop P, Fraser PE, Ramabhadran TV, Kwok JB, Schofield PR, Carter T, Gandy S, Martins RN (2004), “Baculoviruses expressing the human familial Alzheimer's disease presenilin 1 mutation lacking exon 9 increase levels of an amyloid beta-like protein in Sf9 cells.” Mol Psychiatry 9(6):594-602 Details

2003

Chen F, Tandon A, Sanjo N, Gu YJ, Hasegawa H, Arawaka S, Lee FJ, Ruan X, Mastrangelo P, Erdebil S, Wang L, Westaway D, Mount HT, Yankner B, Fraser PE, St George-Hyslop P (2003), “Presenilin 1 and presenilin 2 have differential effects on the stability and maturation of nicastrin in Mammalian brain.” J Biol Chem 278(22):19974-9 Details

Di Natale M, Perri M, Kawarai T, Maletta R, Tomaino C, Sato C, Nacmias B, Shibata N, Sorbi S, St George-Hyslop PH, Bruni AC, Rogaeva E (2003), “Absence of association between Alzheimer disease and the regulatory region polymorphism of the PS2 gene in an Italian population.” Neurosci Lett 343(3):210-2 Details

Gu Y, Chen F, Sanjo N, Kawarai T, Hasegawa H, Duthie M, Li W, Ruan X, Luthra A, Mount HT, Tandon A, Fraser PE, St George-Hyslop P (2003), “APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes.” J Biol Chem 278(9):7374-80 Details

Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A (2003), “Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.” Ann Neurol 54(2):271-4 Details

Kennedy JL, Farrer LA, Andreasen NC, Mayeux R, St George-Hyslop P (2003), “The genetics of adult-onset neuropsychiatric disease: complexities and conundra?” Science 302(5646):822-6 Details

Kleiner-Fisman G, Rogaeva E, Halliday W, Houle S, Kawarai T, Sato C, Medeiros H, St George-Hyslop PH, Lang AE (2003), “Benign hereditary chorea: clinical, genetic, and pathological findings.” Ann Neurol 54(2):244-7 Details

Magistroni R, He N, Wang K, Andrew R, Johnson A, Gabow P, Dicks E, Parfrey P, Torra R, San-Millan JL, Coto E, Van Dijk M, Breuning M, Peters D, Bogdanova N, Ligabue G, Albertazzi A, Hateboer N, Demetriou K, Pierides A, Deltas C, St George-Hyslop P, Ravine D, Pei Y (2003), “Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.” J Am Soc Nephrol 14(5):1164-74 Details

Phinney AL, Drisaldi B, Schmidt SD, Lugowski S, Coronado V, Liang Y, Horne P, Yang J, Sekoulidis J, Coomaraswamy J, Chishti MA, Cox DW, Mathews PM, Nixon RA, Carlson GA, St George-Hyslop P, Westaway D (2003), “In vivo reduction of amyloid-beta by a mutant copper transporter.” Proc Natl Acad Sci U S A 100(24):14193-8 Details

Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop PH (2003), “PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier.” Neurology 61(7):1005-7 Details

Tandon A, Yu H, Wang L, Rogaeva E, Sato C, Chishti MA, Kawarai T, Hasegawa H, Chen F, Davies P, Fraser PE, Westaway D, St George-Hyslop PH (2003), “Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles.” J Neurochem 86(3):572-81 Details

2002

Arawaka S, Hasegawa H, Tandon A, Janus C, Chen F, Yu G, Kikuchi K, Koyama S, Kato T, Fraser PE, St George-Hyslop P (2002), “The levels of mature glycosylated nicastrin are regulated and correlate with gamma-secretase processing of amyloid beta-precursor protein.” J Neurochem 83(5):1065-71 Details

Chen F, Gu Y, Hasegawa H, Ruan X, Arawaka S, Fraser P, Westaway D, Mount H, St George-Hyslop P (2002), “Presenilin 1 mutations activate gamma 42-secretase but reciprocally inhibit epsilon-secretase cleavage of amyloid precursor protein (APP) and S3-cleavage of notch.” J Biol Chem 277(39):36521-6 Details

Dermaut B, Theuns J, Sleegers K, Hasegawa H, Van den Broeck M, Vennekens K, Corsmit E, St George-Hyslop P, Cruts M, van Duijn CM, Van Broeckhoven C (2002), “The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample.” Am J Hum Genet 70(6):1568-74 Details

Fukami S, Watanabe K, Iwata N, Haraoka J, Lu B, Gerard NP, Gerard C, Fraser P, Westaway D, St George-Hyslop P, Saido TC (2002), “Abeta-degrading endopeptidase, neprilysin, in mouse brain: synaptic and axonal localization inversely correlating with Abeta pathology.” Neurosci Res 43(1):39-56 Details

Jo E, Fuller N, Rand RP, St George-Hyslop P, Fraser PE (2002), “Defective membrane interactions of familial Parkinson's disease mutant A30P alpha-synuclein.” J Mol Biol 315(4):799-807 Details

Liauw J, Nguyen V, Huang J, St George-Hyslop P, Rozmahel R (2002), “Differential display analysis of presenilin 1-deficient mouse brains.” Brain Res Mol Brain Res 109(1-2):56-62 Details

McLaurin J, Cecal R, Kierstead ME, Tian X, Phinney AL, Manea M, French JE, Lambermon MH, Darabie AA, Brown ME, Janus C, Chishti MA, Horne P, Westaway D, Fraser PE, Mount HT, Przybylski M, St George-Hyslop P (2002), “Therapeutically effective antibodies against amyloid-beta peptide target amyloid-beta residues 4-10 and inhibit cytotoxicity and fibrillogenesis.” Nat Med 8(11):1263-9 Details

Orlacchio A, Kawarai T, Paciotti E, Stefani A, Orlacchio A, Sorbi S, St George-Hyslop PH, Bernardi G (2002), “Association study of the 5-hydroxytryptamine(6) receptor gene in Alzheimer's disease.” Neurosci Lett 325(1):13-6 Details

Orlacchio A, Kawarai T, Polidoro M, Stefani A, Orlacchio A, St George-Hyslop PH, Bernardi G (2002), “Association analysis between Alzheimer's disease and the Nicastrin gene polymorphisms.” Neurosci Lett 333(2):115-8 Details

Orlacchio A, Kawarai T, Rogaeva E, Song YQ, Paterson AD, Bernardi G, St George-Hyslop PH (2002), “Clinical and genetic study of a large Italian family linked to SPG12 locus.” Neurology 59(9):1395-401 Details

Paterson AD, Wang KR, Lupea D, St George-Hyslop P, Pei Y (2002), “Recurrent fetal loss associated with bilineal inheritance of type 1 autosomal dominant polycystic kidney disease.” Am J Kidney Dis 40(1):16-20 Details

Petit A, St George-Hyslop P, Fraser P, Checler F (2002), “Gamma-secretase-like cleavages of Notch and beta APP are mutually exclusive in human cells.” Biochem Biophys Res Commun 290(5):1408-10 Details

Rozmahel R, Huang J, Chen F, Liang Y, Nguyen V, Ikeda M, Levesque G, Yu G, Nishimura M, Mathews P, Schmidt SD, Mercken M, Bergeron C, Westaway D, St George-Hyslop P (2002), “Normal brain development in PS1 hypomorphic mice with markedly reduced gamma-secretase cleavage of betaAPP.” Neurobiol Aging 23(2):187-94 Details

Rozmahel R, Mount HT, Chen F, Nguyen V, Huang J, Erdebil S, Liauw J, Yu G, Hasegawa H, Gu Y, Song YQ, Schmidt SD, Nixon RA, Mathews PM, Bergeron C, Fraser P, Westaway D, St George-Hyslop P (2002), “Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype.” Proc Natl Acad Sci U S A 99(22):14452-7 Details

Shizuka-Ikeda M, Matsubara E, Ikeda M, Kanai M, Tomidokoro Y, Ikeda Y, Watanabe M, Kawarabayashi T, Harigaya Y, Okamoto K, Maruyama K, Castaño EM, St George-Hyslop P, Shoji M (2002), “Generation of amyloid beta protein from a presenilin-1 and betaAPP complex.” Biochem Biophys Res Commun 292(2):571-8 Details

Sisodia SS, St George-Hyslop PH (2002), “gamma-Secretase, Notch, Abeta and Alzheimer's disease: where do the presenilins fit in?” Nat Rev Neurosci 3(4):281-90 Details

Taddei K, Fisher C, Laws SM, Martins G, Paton A, Clarnette RM, Chung C, Brooks WS, Hallmayer J, Miklossy J, Relkin N, St George-Hyslop PH, Gandy SE, Martins RN (2002), “Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population.” Mol Psychiatry 7(7):776-81 Details

Yang DS, Tandon A, Chen F, Yu G, Yu H, Arawaka S, Hasegawa H, Duthie M, Schmidt SD, Ramabhadran TV, Nixon RA, Mathews PM, Gandy SE, Mount HT, St George-Hyslop P, Fraser PE (2002), “Mature glycosylation and trafficking of nicastrin modulate its binding to presenilins.” J Biol Chem 277(31):28135-42 Details

2001

Athan ES, Williamson J, Ciappa A, Santana V, Romas SN, Lee JH, Rondon H, Lantigua RA, Medrano M, Torres M, Arawaka S, Rogaeva E, Song YQ, Sato C, Kawarai T, Fafel KC, Boss MA, Seltzer WK, Stern Y, St George-Hyslop P, Tycko B, Mayeux R (2001), “A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.” JAMA 286(18):2257-63 Details

Chen F, Yu G, Arawaka S, Nishimura M, Kawarai T, Yu H, Tandon A, Supala A, Song YQ, Rogaeva E, Milman P, Sato C, Yu C, Janus C, Lee J, Song L, Zhang L, Fraser PE, St George-Hyslop PH (2001), “Nicastrin binds to membrane-tethered Notch.” Nat Cell Biol 3(8):751-4 Details

Fergani A, Yu G, St George-Hyslop P, Checler F (2001), “Wild-type and mutated nicastrins do not display aminopeptidase M- and B-like activities.” Biochem Biophys Res Commun 289(3):678-80 Details

Fraser PE, Yu G, Lévesque L, Nishimura M, Yang DS, Mount HT, Westaway D, St George-Hyslop PH (2001), “Presenilin function: connections to Alzheimer's disease and signal transduction.” Biochem Soc Symp (67):89-100 Details

Houlden H, Baker M, Morris HR, MacDonald N, Pickering-Brown S, Adamson J, Lees AJ, Rossor MN, Quinn NP, Kertesz A, Khan MN, Hardy J, Lantos PL, St George-Hyslop P, Munoz DG, Mann D, Lang AE, Bergeron C, Bigio EH, Litvan I, Bhatia KP, Dickson D, Wood NW, Hutton M (2001), “Corticobasal degeneration and progressive supranuclear palsy share a common tau haplotype.” Neurology 56(12):1702-6 Details

Ishii K, Lippa C, Tomiyama T, Miyatake F, Ozawa K, Tamaoka A, Hasegawa T, Fraser PE, Shoji S, Nee LE, Pollen DA, St George-Hyslop PH, Ii K, Ohtake T, Kalaria RN, Rossor MN, Lantos PL, Cairns NJ, Farrer LA, Mori H (2001), “Distinguishable effects of presenilin-1 and APP717 mutations on amyloid plaque deposition.” Neurobiol Aging 22(3):367-76 Details

Levitan D, Yu G, St George Hyslop P, Goutte C (2001), “APH-2/nicastrin functions in LIN-12/Notch signaling in the Caenorhabditis elegans somatic gonad.” Dev Biol 240(2):654-61 Details

Pei Y, Paterson AD, Wang KR, He N, Hefferton D, Watnick T, Germino GG, Parfrey P, Somlo S, St George-Hyslop P (2001), “Bilineal disease and trans-heterozygotes in autosomal dominant polycystic kidney disease.” Am J Hum Genet 68(2):355-63 Details

Rogaeva E, Tandon A, St George-Hyslop PH (2001), “Genetic markers in the diagnosis of Alzheimer's disease.” J Alzheimers Dis 3(3):293-304 Details

Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y, Richard E, Rogaev EI, Frommelt P, Sadovnick AD, Meschino W, Rockwood K, Boss MA, Mayeux R, St George-Hyslop P (2001), “Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.” Neurology 57(4):621-5 Details

Sato N, Imaizumi K, Manabe T, Taniguchi M, Hitomi J, Katayama T, Yoneda T, Morihara T, Yasuda Y, Takagi T, Kudo T, Tsuda T, Itoyama Y, Makifuchi T, Fraser PE, St George-Hyslop P, Tohyama M (2001), “Increased production of beta-amyloid and vulnerability to endoplasmic reticulum stress by an aberrant spliced form of presenilin 2.” J Biol Chem 276(3):2108-14 Details

2000

Chen F, Yang DS, Petanceska S, Yang A, Tandon A, Yu G, Rozmahel R, Ghiso J, Nishimura M, Zhang DM, Kawarai T, Levesque G, Mills J, Levesque L, Song YQ, Rogaeva E, Westaway D, Mount H, Gandy S, St George-Hyslop P, Fraser PE (2000), “Carboxyl-terminal fragments of Alzheimer beta-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1-deficient cells.” J Biol Chem 275(47):36794-802 Details

Devi G, Fotiou A, Jyrinji D, Tycko B, DeArmand S, Rogaeva E, Song YQ, Medieros H, Liang Y, Orlacchio A, Williamson J, St George-Hyslop P, Mayeux R (2000), “Novel presenilin 1 mutations associated with early onset of dementia in a family with both early-onset and late-onset Alzheimer disease.” Arch Neurol 57(10):1454-7 Details

Farrer LA, Sherbatich T, Keryanov SA, Korovaitseva GI, Rogaeva EA, Petruk S, Premkumar S, Moliaka Y, Song YQ, Pei Y, Sato C, Selezneva ND, Voskresenskaya S, Golimbet V, Sorbi S, Duara R, Gavrilova S, St George-Hyslop PH, Rogaev EI (2000), “Association between angiotensin-converting enzyme and Alzheimer disease.” Arch Neurol 57(2):210-4 Details

Fraser PE, Yang DS, Yu G, Lévesque L, Nishimura M, Arawaka S, Serpell LC, Rogaeva E, St George-Hyslop P (2000), “Presenilin structure, function and role in Alzheimer disease.” Biochim Biophys Acta 1502(1):1-15 Details

Gestri D, Cecchi C, Tedde A, Latorraca S, Orlacchio A, Grassi E, Massaro AM, Liguri G, St George-Hyslop PH, Sorbi S (2000), “Lack of SOD1 gene mutations and activity alterations in two Italian families with amyotrophic lateral sclerosis.” Neurosci Lett 289(3):157-60 Details

Grilli M, Diodato E, Lozza G, Brusa R, Casarini M, Uberti D, Rozmahel R, Westaway D, St George-Hyslop P, Memo M, Ongini E (2000), “Presenilin-1 regulates the neuronal threshold to excitotoxicity both physiologically and pathologically.” Proc Natl Acad Sci U S A 97(23):12822-7 Details

Janus C, D'Amelio S, Amitay O, Chishti MA, Strome R, Fraser P, Carlson GA, Roder JC, St George-Hyslop P, Westaway D (2000), “Spatial learning in transgenic mice expressing human presenilin 1 (PS1) transgenes.” Neurobiol Aging 21(4):541-9 Details

Janus C, Pearson J, McLaurin J, Mathews PM, Jiang Y, Schmidt SD, Chishti MA, Horne P, Heslin D, French J, Mount HT, Nixon RA, Mercken M, Bergeron C, Fraser PE, St George-Hyslop P, Westaway D (2000), “A beta peptide immunization reduces behavioural impairment and plaques in a model of Alzheimer's disease.” Nature 408(6815):979-82 Details

Jo E, McLaurin J, Yip CM, St George-Hyslop P, Fraser PE (2000), “alpha-Synuclein membrane interactions and lipid specificity.” J Biol Chem 275(44):34328-34 Details

Jorge R, Mangone C, Castano E, Perandones C, Rogaeva E, St George-Hyslop P, El Hachimi KH, Foncin JF, Robinson RG, Bruni AC (2000), “Comparison of clinical and pathological phenotypes in two ethnically and geographically unrelated pedigrees segregating an equivalent presenilin 1 mutation.” J Neuropsychiatry Clin Neurosci 12(3):359-63 Details

Kertesz A, Kawarai T, Rogaeva E, St George-Hyslop P, Poorkaj P, Bird TD, Munoz DG (2000), “Familial frontotemporal dementia with ubiquitin-positive, tau-negative inclusions.” Neurology 54(4):818-27 Details

Lippa CF, Swearer JM, Kane KJ, Nochlin D, Bird TD, Ghetti B, Nee LE, St George-Hyslop P, Pollen DA, Drachman DA (2000), “Familial Alzheimer's disease: site of mutation influences clinical phenotype.” Ann Neurol 48(3):376-9 Details

Lippa CF, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM (2000), “Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation.” Ann Neurol 48(6):850-8 Details

Orlacchio A, Kawarai T, Massaro AM, St George-Hyslop PH, Sorbi S (2000), “Absence of linkage between familial amyotrophic lateral sclerosis and copper chaperone for the superoxide dismutase gene locus in two Italian pedigrees.” Neurosci Lett 285(2):83-6 Details

St George-Hyslop P (2000), “Alzheimer's disease.” Neurobiol Dis 7(5):546-8 Details

St George-Hyslop PH (2000), “Genetic factors in the genesis of Alzheimer's disease.” Ann N Y Acad Sci 924:1-7 Details

St George-Hyslop PH (2000), “Piecing together Alzheimer's.” Sci Am 283(6):76-83 Details

St George-Hyslop PH (2000), “Molecular genetics of Alzheimer's disease.” Biol Psychiatry 47(3):183-99 Details

St George-Hyslop PH, McLaurin J, Fraser PE (2000), “Neuropathological, biochemical and genetic alterations in AD.” Drug News Perspect 13(5):281-8 Details

Tandon A, Rogaeva E, Mullan M, St George-Hyslop PH (2000), “Molecular genetics of Alzheimer's disease: the role of beta-amyloid and the presenilins.” Curr Opin Neurol 13(4):377-84 Details

Van Gassen G, De Jonghe C, Nishimura M, Yu G, Kuhn S, St George-Hyslop P, Van Broeckhoven C (2000), “Evidence that the beta-catenin nuclear translocation assay allows for measuring presenilin 1 dysfunction.” Mol Med 6(7):570-80 Details

Verdile G, Martins RN, Duthie M, Holmes E, St George-Hyslop PH, Fraser PE (2000), “Inhibiting amyloid precursor protein C-terminal cleavage promotes an interaction with presenilin 1.” J Biol Chem 275(27):20794-8 Details

Watnick T, He N, Wang K, Liang Y, Parfrey P, Hefferton D, St George-Hyslop P, Germino G, Pei Y (2000), “Mutations of PKD1 in ADPKD2 cysts suggest a pathogenic effect of trans-heterozygous mutations.” Nat Genet 25(2):143-4 Details

Yu G, Chen F, Nishimura M, Steiner H, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, Holmes E, Zhang DM, Milman P, Fraser P, Haass C, St George-Hyslop P (2000), “Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes.” Acta Neurol Scand Suppl 176:6-11 Details

Yu G, Nishimura M, Arawaka S, Levitan D, Zhang L, Tandon A, Song YQ, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang DS, Holmes E, Milman P, Liang Y, Zhang DM, Xu DH, Sato C, Rogaev E, Smith M, Janus C, Zhang Y, Aebersold R, Farrer LS, Sorbi S, Bruni A, Fraser P, St George-Hyslop P (2000), “Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing.” Nature 407(6800):48-54 Details

Zhang DM, Levitan D, Yu G, Nishimura M, Chen F, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, Liang Y, Holmes E, Milman P, Sato C, Zhang L, St George-Hyslop P (2000), “Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased A beta42 secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans.” Neuroreport 11(14):3227-30 Details

1999

De Jonghe C, Cruts M, Rogaeva EA, Tysoe C, Singleton A, Vanderstichele H, Meschino W, Dermaut B, Vanderhoeven I, Backhovens H, Vanmechelen E, Morris CM, Hardy J, Rubinsztein DC, St George-Hyslop PH, Van Broeckhoven C (1999), “Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.” Hum Mol Genet 8(8):1529-40 Details

Elia AJ, Parkes TL, Kirby K, St George-Hyslop P, Boulianne GL, Phillips JP, Hilliker AJ (1999), “Expression of human FALS SOD in motorneurons of Drosophila.” Free Radic Biol Med 26(9-10):1332-8 Details

Harwood DG, Barker WW, Loewenstein DA, Ownby RL, St George-Hyslop P, Mullan M, Duara R (1999), “A cross-ethnic analysis of risk factors for AD in white Hispanics and white non-Hispanics.” Neurology 52(3):551-6 Details

Harwood DG, Barker WW, Ownby RL, St George-Hyslop P, Duara R (1999), “Apolipoprotein-E (APO-E) genotype and symptoms of psychosis in Alzheimer's disease.” Am J Geriatr Psychiatry 7(2):119-23 Details

Katayama T, Imaizumi K, Sato N, Miyoshi K, Kudo T, Hitomi J, Morihara T, Yoneda T, Gomi F, Mori Y, Nakano Y, Takeda J, Tsuda T, Itoyama Y, Murayama O, Takashima A, St George-Hyslop P, Takeda M, Tohyama M (1999), “Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response.” Nat Cell Biol 1(8):479-85 Details

Levesque G, Yu G, Nishimura M, Zhang DM, Levesque L, Yu H, Xu D, Liang Y, Rogaeva E, Ikeda M, Duthie M, Murgolo N, Wang L, VanderVere P, Bayne ML, Strader CD, Rommens JM, Fraser PE, St George-Hyslop P (1999), “Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin.” J Neurochem 72(3):999-1008 Details

Lévesque L, Annaert W, Craessaerts K, Mathews PM, Seeger M, Nixon RA, Van Leuven F, Gandy S, Westaway D, St George-Hyslop P, De Strooper B, Fraser PE (1999), “Developmental expression of wild-type and mutant presenilin-1 in hippocampal neurons from transgenic mice: evidence for novel species-specific properties of human presenilin-1.” Mol Med 5(8):542-54 Details

Miake H, Tsuchiya K, Nakamura A, Ikeda K, Levesque L, Fraser PE, St-George Hyslop PH, Mizusawa H, Uchihara T (1999), “Glial expression of presenilin epitopes in human brain with cerebral infarction and in astrocytoma.” Acta Neuropathol 98(4):337-40 Details

Nishimura M, Yu G, Levesque G, Zhang DM, Ruel L, Chen F, Milman P, Holmes E, Liang Y, Kawarai T, Jo E, Supala A, Rogaeva E, Xu DM, Janus C, Levesque L, Bi Q, Duthie M, Rozmahel R, Mattila K, Lannfelt L, Westaway D, Mount HT, Woodgett J, St George-Hyslop P (1999), “Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex.” Nat Med 5(2):164-9 Details

Nishimura M, Yu G, St George-Hyslop PH (1999), “Biology of presenilins as causative molecules for Alzheimer disease.” Clin Genet 55(4):219-25 Details

Pei Y, Watnick T, He N, Wang K, Liang Y, Parfrey P, Germino G, St George-Hyslop P (1999), “Somatic PKD2 mutations in individual kidney and liver cysts support a "two-hit" model of cystogenesis in type 2 autosomal dominant polycystic kidney disease.” J Am Soc Nephrol 10(7):1524-9 Details

Rogaeva EA, Premkumar S, Grubber J, Serneels L, Scott WK, Kawarai T, Song Y, Hill DL, Abou-Donia SM, Martin ER, Vance JJ, Yu G, Orlacchio A, Pei Y, Nishimura M, Supala A, Roberge B, Saunders AM, Roses AD, Schmechel D, Crane-Gatherum A, Sorbi S, Bruni A, Small GW, Conneally PM, Haines JL, Van Leuven F, St George-Hyslop PH, Farrer LA, Pericak-Vance MA (1999), “An alpha-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.” Nat Genet 22(1):19-22 Details

Schwarzman AL, Singh N, Tsiper M, Gregori L, Dranovsky A, Vitek MP, Glabe CG, St George-Hyslop PH, Goldgaber D (1999), “Endogenous presenilin 1 redistributes to the surface of lamellipodia upon adhesion of Jurkat cells to a collagen matrix.” Proc Natl Acad Sci U S A 96(14):7932-7 Details

St George-Hyslop PH (1999), “Molecular genetics of Alzheimer disease.” Semin Neurol 19(4):371-83 Details

St George-Hyslop PH, Westaway DA (1999), “Alzheimer's disease. Antibody clears senile plaques.” Nature 400(6740):116-7 Details

Swartz RH, Black SE, St George-Hyslop P (1999), “Apolipoprotein E and Alzheimer's disease: a genetic, molecular and neuroimaging review.” Can J Neurol Sci 26(2):77-88 Details

Tomidokoro Y, Ishiguro K, Igeta Y, Matsubara E, Kanai M, Shizuka M, Kawarabayashi T, Harigaya Y, Kawakatsu S, Ii K, Ikeda M, St George-Hyslop PH, Hirai S, Okamoto K, Shoji M (1999), “Carboxyl-terminal fragments of presenilin-1 are closely related to cytoskeletal abnormalities in Alzheimer's brains.” Biochem Biophys Res Commun 256(3):512-8 Details

Van Uden E, Carlson G, St George-Hyslop P, Westaway D, Orlando R, Mallory M, Rockenstein E, Masliah E (1999), “Aberrant presenilin-1 expression downregulates LDL receptor-related protein (LRP): is LRP central to Alzheimer's disease pathogenesis?” Mol Cell Neurosci 14(2):129-40 Details

1998

Brindle N, Song Y, Rogaeva E, Premkumar S, Levesque G, Yu G, Ikeda M, Nishimura M, Paterson A, Sorbi S, Duara R, Farrer L, St George-Hyslop P (1998), “Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease.” Hum Mol Genet 7(5):933-5 Details

Citron M, Eckman CB, Diehl TS, Corcoran C, Ostaszewski BL, Xia W, Levesque G, St George Hyslop P, Younkin SG, Selkoe DJ (1998), “Additive effects of PS1 and APP mutations on secretion of the 42-residue amyloid beta-protein.” Neurobiol Dis 5(2):107-16 Details

Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S, Sherrington R, Hutton M, Hardy J, St George-Hyslop PH, Hofman A, Van Broeckhoven C (1998), “Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.” Hum Mol Genet 7(1):43-51 Details

Farrer LA, Abraham CR, Haines JL, Rogaeva EA, Song Y, McGraw WT, Brindle N, Premkumar S, Scott WK, Yamaoka LH, Saunders AM, Roses AD, Auerbach SA, Sorbi S, Duara R, Pericak-Vance MA, St George-Hyslop PH (1998), “Association between bleomycin hydrolase and Alzheimer's disease in caucasians.” Ann Neurol 44(5):808-11 Details

Fraser PE, Levesque G, Yu G, Mills LR, Thirlwell J, Frantseva M, Gandy SE, Seeger M, Carlen PL, St George-Hyslop P (1998), “Presenilin 1 is actively degraded by the 26S proteasome.” Neurobiol Aging 19(1 Suppl):S19-21 Details

Furukawa Y, Lang AE, Trugman JM, Bird TD, Hunter A, Sadeh M, Tagawa T, St George-Hyslop PH, Guttman M, Morris LW, Hornykiewicz O, Shimadzu M, Kish SJ (1998), “Gender-related penetrance and de novo GTP-cyclohydrolase I gene mutations in dopa-responsive dystonia.” Neurology 50(4):1015-20 Details

Hayashi Y, Fukatsu R, Tsuzuki K, Yoshida T, Sasaki N, Kimura K, Yamaguchi H, St George-Hyslop PH, Fujii N, Takahata N (1998), “Evidence for presenilin-1 involvement in amyloid angiopathy in the Alzheimer's disease-affected brain.” Brain Res 789(2):307-14 Details

Ichise M, Ballinger JR, Tanaka F, Moscovitch M, St George-Hyslop PH, Raphael D, Freedman M (1998), “Age-related changes in D2 receptor binding with iodine-123-iodobenzofuran SPECT.” J Nucl Med 39(9):1511-8 Details

Lippa CF, Fujiwara H, Mann DM, Giasson B, Baba M, Schmidt ML, Nee LE, O'Connell B, Pollen DA, St George-Hyslop P, Ghetti B, Nochlin D, Bird TD, Cairns NJ, Lee VM, Iwatsubo T, Trojanowski JQ (1998), “Lewy bodies contain altered alpha-synuclein in brains of many familial Alzheimer's disease patients with mutations in presenilin and amyloid precursor protein genes.” Am J Pathol 153(5):1365-70 Details

Lippa CF, Nee LE, Mori H, St George-Hyslop P (1998), “Abeta-42 deposition precedes other changes in PS-1 Alzheimer's disease.” Lancet 352(9134):1117-8 Details

Mattila KM, Forsell C, Pirttilä T, Rinne JO, Lehtimäki T, Röyttä M, Lilius L, Eerola A, St George-Hyslop PH, Frey H, Lannfelt L (1998), “The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.” Ann Neurol 44(6):965-7 Details

Pei Y, He N, Wang K, Kasenda M, Paterson AD, Chan G, Liang Y, Roscoe J, Brissenden J, Hefferton D, Parfrey P, Somlo S, St George-Hyslop P (1998), “A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.” J Am Soc Nephrol 9(10):1853-60 Details

Pei Y, Wang K, Kasenda M, Paterson AD, Liang Y, Huang E, Lian J, Rogovea E, Somlo S, St George-Hyslop P (1998), “A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene.” Kidney Int 53(5):1127-32 Details

Ramirez-Dueñas MG, Rogaeva EA, Leal CA, Lin C, Ramirez-Casillas GA, Hernandez-Romo JA, St George-Hyslop PH, Cantu JM (1998), “A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease.” Ann Genet 41(3):149-53 Details

Rogaeva E, Premkumar S, Song Y, Sorbi S, Brindle N, Paterson A, Duara R, Levesque G, Yu G, Nishimura M, Ikeda M, O'Toole C, Kawarai T, Jorge R, Vilarino D, Bruni AC, Farrer LA, St George-Hyslop PH (1998), “Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity.” JAMA 280(7):614-8 Details

Sato S, Kamino K, Miki T, Doi A, Ii K, St George-Hyslop PH, Ogihara T, Sakaki Y (1998), “Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.” Hum Mutat Suppl 1:S91-4 Details

Song YQ, Rogaeva E, Premkumar S, Brindle N, Kawarai T, Orlacchio A, Yu G, Levesque G, Nishimura M, Ikeda M, Pei Y, O'Toole C, Duara R, Barker W, Sorbi S, Freedman M, Farrer L, St George-Hyslop P (1998), “Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.” Neurosci Lett 250(3):189-92 Details

St George-Hyslop PH (1998), “Role of genetics in tests of genotype, status, and disease progression in early-onset Alzheimer's disease.” Neurobiol Aging 19(2):133-7 Details

Tamaoka A, Fraser PE, Ishii K, Sahara N, Ozawa K, Ikeda M, Saunders AM, Komatsuzaki Y, Sherrington R, Levesque G, Yu G, Rogaeva E, Shoji S, Nee LE, Pollen DA, Hendriks L, Martin JJ, Van Broeckhoven C, Roses AD, Farrer LA, St George-Hyslop PH, Mori H (1998), “Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease.” Brain Res Mol Brain Res 56(1-2):178-85 Details

Yu G, Chen F, Levesque G, Nishimura M, Zhang DM, Levesque L, Rogaeva E, Xu D, Liang Y, Duthie M, St George-Hyslop PH, Fraser PE (1998), “The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin.” J Biol Chem 273(26):16470-5 Details

1997

Aoki M, Abe K, Oda N, Ikeda M, Tsuda T, Kanai M, Shoji M, St George-Hyslop PH, Itoyama Y (1997), “A presenilin-1 mutation in a Japanese family with Alzheimer's disease and distinctive abnormalities on cranial MRI.” Neurology 48(4):1118-20 Details

Boulianne GL, Livne-Bar I, Humphreys JM, Liang Y, Lin C, Rogaev E, St George-Hyslop P (1997), “Cloning and characterization of the Drosophila presenilin homologue.” Neuroreport 8(4):1025-9 Details

Cantillon M, Harwood D, Barker W, St George-Hyslop P, Tsuda T, Ekatarina R, Duara R (1997), “No association between apolipoprotein E genotype and late-onset depression in Alzheimer's disease.” Biol Psychiatry 41(2):246-8 Details

Citron M, Westaway D, Xia W, Carlson G, Diehl T, Levesque G, Johnson-Wood K, Lee M, Seubert P, Davis A, Kholodenko D, Motter R, Sherrington R, Perry B, Yao H, Strome R, Lieberburg I, Rommens J, Kim S, Schenk D, Fraser P, St George Hyslop P, Selkoe DJ (1997), “Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice.” Nat Med 3(1):67-72 Details

Forsell C, Froelich S, Axelman K, Vestling M, Cowburn RF, Lilius L, Johnston JA, Engvall B, Johansson K, Dahlkild A, Ingelson M, St George-Hyslop PH, Lannfelt L (1997), “A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease.” Neurosci Lett 234(1):3-6 Details

Ishii K, Tamaoka A, Mizusawa H, Shoji S, Ohtake T, Fraser PE, Takahashi H, Tsuji S, Gearing M, Mizutani T, Yamada S, Kato M, St George-Hyslop PH, Mirra SS, Mori H (1997), “Abeta1-40 but not Abeta1-42 levels in cortex correlate with apolipoprotein E epsilon4 allele dosage in sporadic Alzheimer's disease.” Brain Res 748(1-2):250-2 Details

Kwok JB, Taddei K, Hallupp M, Fisher C, Brooks WS, Broe GA, Hardy J, Fulham MJ, Nicholson GA, Stell R, St George Hyslop PH, Fraser PE, Kakulas B, Clarnette R, Relkin N, Gandy SE, Schofield PR, Martins RN (1997), “Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.” Neuroreport 8(6):1537-42 Details

Okochi M, Ishii K, Usami M, Sahara N, Kametani F, Tanaka K, Fraser PE, Ikeda M, Saunders AM, Hendriks L, Shoji SI, Nee LE, Martin JJ, Van Broeckhoven C, St George-Hyslop PH, Roses AD, Mori H (1997), “Proteolytic processing of presenilin-1 (PS-1) is not associated with Alzheimer's disease with or without PS-1 mutations.” FEBS Lett 418(1-2):162-6 Details

Podlisny MB, Citron M, Amarante P, Sherrington R, Xia W, Zhang J, Diehl T, Levesque G, Fraser P, Haass C, Koo EH, Seubert P, St George-Hyslop P, Teplow DB, Selkoe DJ (1997), “Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue.” Neurobiol Dis 3(4):325-37 Details

Post SG, Whitehouse PJ, Binstock RH, Bird TD, Eckert SK, Farrer LA, Fleck LM, Gaines AD, Juengst ET, Karlinsky H, Miles S, Murray TH, Quaid KA, Relkin NR, Roses AD, St George-Hyslop PH, Sachs GA, Steinbock B, Truschke EF, Zinn AB (1997), “The clinical introduction of genetic testing for Alzheimer disease. An ethical perspective.” JAMA 277(10):832-6 Details

Rogaev EI, Sherrington R, Wu C, Levesque G, Liang Y, Rogaeva EA, Ikeda M, Holman K, Lin C, Lukiw WJ, de Jong PJ, Fraser PE, Rommens JM, St George-Hyslop P (1997), “Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease.” Genomics 40(3):415-24 Details

1996

Igarashi S, Takiyama Y, Cancel G, Rogaeva EA, Sasaki H, Wakisaka A, Zhou YX, Takano H, Endo K, Sanpei K, Oyake M, Tanaka H, Stevanin G, Abbas N, Dürr A, Rogaev EI, Sherrington R, Tsuda T, Ikeda M, Cassa E, Nishizawa M, Benomar A, Julien J, Weissenbach J, Wang GX, Agid Y, St George-Hyslop PH, Brice A, Tsuji S (1996), “Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat.” Hum Mol Genet 5(7):923-32 Details

Ikeda M, Sharma V, Sumi SM, Rogaeva EA, Poorkaj P, Sherrington R, Nee L, Tsuda T, Oda N, Watanabe M, Aoki M, Shoji M, Abe K, Itoyama Y, Hirai S, Schellenberg GD, Bird TD, St George-Hyslop PH (1996), “The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.” Ann Neurol 40(6):912-7 Details

Kamino K, Sato S, Sakaki Y, Yoshiiwa A, Nishiwaki Y, Takeda M, Tanabe H, Nishimura T, Ii K, St George-Hyslop PH, Miki T, Ogihara T (1996), “Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.” Neurosci Lett 208(3):195-8 Details

Reznik-Wolf H, Treves TA, Davidson M, Aharon-Peretz J, St George Hyslop PH, Chapman J, Korczyn AD, Goldman B, Friedman E (1996), “A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis.” Hum Genet 98(6):700-2 Details

Rogaev EI, Rogaeva EA, Korovaitseva GI, Farrer LA, Petrin AN, Keryanov SA, Turaeva S, Chumakov I, St George-Hyslop P, Ginter EK (1996), “Linkage of polymorphic congenital cataract to the gamma-crystallin gene locus on human chromosome 2q33-35.” Hum Mol Genet 5(5):699-703 Details

Sherrington R, Froelich S, Sorbi S, Campion D, Chi H, Rogaeva EA, Levesque G, Rogaev EI, Lin C, Liang Y, Ikeda M, Mar L, Brice A, Agid Y, Percy ME, Clerget-Darpoux F, Piacentini S, Marcon G, Nacmias B, Amaducci L, Frebourg T, Lannfelt L, Rommens JM, St George-Hyslop PH (1996), “Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.” Hum Mol Genet 5(7):985-8 Details

Tierney MC, Szalai JP, Snow WG, Fisher RH, Nores A, Nadon G, Dunn E, St George-Hyslop PH (1996), “Prediction of probable Alzheimer's disease in memory-impaired patients: A prospective longitudinal study.” Neurology 46(3):661-5 Details

Tierney MC, Szalai JP, Snow WG, Fisher RH, Tsuda T, Chi H, McLachlan DR, St George-Hyslop PH (1996), “A prospective study of the clinical utility of ApoE genotype in the prediction of outcome in patients with memory impairment.” Neurology 46(1):149-54 Details

Trower MK, Orton SM, Purvis IJ, Sanseau P, Riley J, Christodoulou C, Burt D, See CG, Elgar G, Sherrington R, Rogaev EI, St George-Hyslop P, Brenner S, Dykes CW (1996), “Conservation of synteny between the genome of the pufferfish (Fugu rubripes) and the region on human chromosome 14 (14q24.3) associated with familial Alzheimer disease (AD3 locus)” Proc Natl Acad Sci U S A 93(4):1366-9 Details

Uchihara T, el Hachimi HK, Duyckaerts C, Foncin JF, Fraser PE, Levesque L, St George-Hyslop PH, Hauw JJ (1996), “Widespread immunoreactivity of presenilin in neurons of normal and Alzheimer's disease brains: double-labeling immunohistochemical study.” Acta Neuropathol 92(4):325-30 Details

1995

Chen X, de Silva HA, Pettenati MJ, Rao PN, St George-Hyslop P, Roses AD, Xia Y, Horsburgh K, Uéda K, Saitoh T (1995), “The human NACP/alpha-synuclein gene: chromosome assignment to 4q21.3-q22 and TaqI RFLP analysis.” Genomics 26(2):425-7 Details

Cox DW, Gedde-Dahl T Jr, Menon AG, Nygaard TG, Tomlinson IM, Peters J, St George-Hyslop PH, Walter MA, Edwards JH (1995), “Report of the second international workshop on human chromosome 14 mapping 1994.” Cytogenet Cell Genet 69(3-4):159-74 Details

Ikeda M, Abe K, Aoki M, Sahara M, Watanabe M, Shoji M, St George-Hyslop PH, Hirai S, Itoyama Y (1995), “Variable clinical symptoms in familial amyotrophic lateral sclerosis with a novel point mutation in the Cu/Zn superoxide dismutase gene.” Neurology 45(11):2038-42 Details

Querfurth HW, Wijsman EM, St George-Hyslop PH, Selkoe DJ (1995), “Beta APP mRNA transcription is increased in cultured fibroblasts from the familial Alzheimer's disease-1 family.” Brain Res Mol Brain Res 28(2):319-37 Details

Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M, Chi H, Lin C, Li G, Holman K, Tsuda T, Mar L, Foncin JF, Bruni AC, Montesi MP, Sorbi S, Rainero I, Pinessi L, Nee L, Chumakov I, Pollen D, Brookes A, Sanseau P, Polinsky RJ, Wasco W, Da Silva HA, Haines JL, Perkicak-Vance MA, Tanzi RE, Roses AD, Fraser PE, Rommens JM, St George-Hyslop PH (1995), “Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.” Nature 375(6534):754-60 Details

Sorbi S, Nacmias B, Forleo P, Piacentini S, Sherrington R, Rogaev E, St George Hyslop P, Amaducci L (1995), “Missense mutation of S182 gene in Italian families with early-onset Alzheimer's disease.” Lancet 346(8972):439-40 Details

St George-Hyslop P (1995), “Genetic determinants of Alzheimer disease.” Prog Clin Biol Res 393:139-45 Details

Tuite PJ, Rogaeva EA, St George-Hyslop PH, Lang AE (1995), “Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion.” Ann Neurol 38(4):684-7 Details

Young K, Jones CK, Piccardo P, Lazzarini A, Golbe LI, Zimmerman TR Jr, Dickson DW, McLachlan DC, St George-Hyslop P, Lennox A (1995), “Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.” Neurology 45(6):1127-34 Details

1994

Bowcock AM, Tomfohrde J, Weissenbach J, Bonne-Tamir B, St George-Hyslop P, Giagheddu M, Cavalli-Sforza LL, Farrer LA (1994), “Refining the position of Wilson disease by linkage disequilibrium with polymorphic microsatellites.” Am J Hum Genet 54(1):79-87 Details

Lang AE, Rogaeva EA, Tsuda T, Hutterer J, St George-Hyslop P (1994), “Homozygous inheritance of the Machado-Joseph disease gene.” Ann Neurol 36(3):443-7 Details

Lukiw WJ, Rogaev EI, Wong L, Vaula G, McLachlan DR, St George Hyslop P (1994), “Protein-DNA interactions in the promoter region of the amyloid precursor protein (APP) gene in human neocortex.” Brain Res Mol Brain Res 22(1-4):121-31 Details

Mortilla M, Vaula G, St George-Hyslop PH (1994), “Assessment of genetic polymorphisms in DNA from formalin fixed neurological tissues.” Can J Neurol Sci 21(3):248-51 Details

Rogaev EI, Lukiw WJ, Lavrushina O, Rogaeva EA, St George-Hyslop PH (1994), “The upstream promoter of the beta-amyloid precursor protein gene (APP) shows differential patterns of methylation in human brain.” Genomics 22(2):340-7 Details

Rogaev EI, Rogaeva EA, Ginter EK, Korova?tseva GI, Farrer L, Shlenski? AB, Prytkov AN, St George-Hyslop P, Mordovtsev VN (1994), “[Mapping the gene for palmoplantar hyperkeratosis (thylosis) to chromosome 17 in the 17q12-q24 region].” Genetika 30(3):326-9 Details

St George-Hyslop P, McLachlan DC, Tsuda T, Rogaev E, Karlinsky H, Lippa CF, Pollen D (1994), “Alzheimer's disease and possible gene interaction.” Science 263(5146):537 Details

St George-Hyslop P, Rogaeva E, Huterer J, Tsuda T, Santos J, Haines JL, Schlumpf K, Rogaev EI, Liang Y, McLachlan DR (1994), “Machado-Joseph disease in pedigrees of Azorean descent is linked to chromosome 14.” Am J Hum Genet 55(1):120-5 Details

1993

Pericak-Vance MA, St George-Hyslop PH, Gaskell PC Jr, Growdon J, Crain BJ, Hulette C, Gusella JF, Yamaoka L, Tanzi RE, Roses AD (1993), “Linkage analysis in familial Alzheimer disease: description of the Duke and Boston data sets.” Genet Epidemiol 10(6):361-4 Details

Rogaev EI, Lukiw WJ, Vaula G, Haines JL, Rogaeva EA, Tsuda T, Alexandrova N, Liang Y, Mortilla M, Amaducci L, Bergamini L, Bruni AC, Foncin JF, Macciardi F, Montesi M, Sorbi S, Rainero I, Pinessi L, Polinsky RJ, Frommelt P, Duara R, Lopez R, Pollen D, Gusella JF, Tanzi R, MacLachlan D, Crapper D, St George-Hyslop PH (1993), “Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease.” Neurology 43(11):2275-9 Details

Rogaev EI, Rogaeva EA, Ginter EK, Korovaitseva GI, Farrer LA, Shlensky AB, Pritkov AN, Mordovtsev VN, St George-Hyslop PH (1993), “Identification of the genetic locus for keratosis palmaris et plantaris on chromosome 17 near the RARA and keratin type I genes.” Nat Genet 5(2):158-62 Details

Stewart EA, White A, Tomfohrde J, Osborne-Lawrence S, Prestridge L, Bonne-Tamir B, Scheinberg IH, St George-Hyslop P, Giagheddu M, Kim JW (1993), “Polymorphic microsatellites and Wilson disease (WD).” Am J Hum Genet 53(4):864-73 Details

Tupler R, Rogaeva E, Vaula G, Mortilla M, Lukiw W, Liang Y, Hancock R, Rogaev E, St George-Hyslop P (1993), “A highly informative microsatellite repeat polymorphism in intron 1 of the human amyloid precursor protein (APP) gene.” Hum Mol Genet 2(5):620 Details

1992

Baxter LR Jr, Mazziotta JC, Pahl JJ, Grafton ST, St George-Hyslop P, Haines JL, Gusella JF, Szuba MP, Selin CE, Guze BH (1992), “Psychiatric, genetic, and positron emission tomographic evaluation of persons at risk for Huntington's disease.” Arch Gen Psychiatry 49(2):148-54 Details

Grafton ST, Mazziotta JC, Pahl JJ, St George-Hyslop P, Haines JL, Gusella J, Hoffman JM, Baxter LR, Phelps ME (1992), “Serial changes of cerebral glucose metabolism and caudate size in persons at risk for Huntington's disease.” Arch Neurol 49(11):1161-7 Details

Karlinsky H, Berg JM, Lennox A, Ray PN, St George-Hyslop P, Farrer LA, Percy ME, Andrews DF, Atack EA (1992), “Monozygotic twins concordant for late-onset probable Alzheimer disease with suspected Alzheimer disease in four sibs.” Am J Med Genet 44(5):591-7 Details

Rogaev E, Rogaeva E, Lukiw WJ, Vaula G, Liang Y, Hancock R, McLachlan DC, St George-Hyslop PH (1992), “An informative microsatellite repeat polymorphism in the human neurofilament light polypeptide (NEFL) gene.” Hum Mol Genet 1(9):781 Details

St George-Hyslop P, Haines J, Rogaev E, Mortilla M, Vaula G, Pericak-Vance M, Foncin JF, Montesi M, Bruni A, Sorbi S, Rainero I, Pinessi L, Pollen D, Polinsky R, Nee L, Kennedy J, Macciardi F, Rogaeva E, Liang Y, Alexandrova N, Lukiw W, Schlumpf K, Tanzi R, Tsuda T, Farrer L, Cantu JM, Duara R, Amaducci L, Bergamini L, Gusella J, Roses A, Crapper McLachlan D (1992), “Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.” Nat Genet 2(4):330-4 Details

St George-Hyslop PH, Ohno H, Gusella JF, McKeithan T (1992), “The BCL3 locus on chromosome 19 displays an informative microsatellite polymorphism.” Nucleic Acids Res 20(4):927 Details

1991

Abe K, St George-Hyslop PH, Tanzi RE, Kogure K (1991), “Induction of amyloid precursor protein mRNA after heat shock in cultured human lymphoblastoid cells.” Neurosci Lett 125(2):169-71 Details

Farrer LA, Bowcock AM, Hebert JM, Bonné-Tamir B, Sternlieb I, Giagheddu M, St George-Hyslop P, Frydman M, Lössner J, Demelia L (1991), “Predictive testing for Wilson's disease using tightly linked and flanking DNA markers.” Neurology 41(7):992-9 Details

Kumar A, Schapiro MB, Grady CL, Matocha MF, Haxby JV, Moore AM, Luxenberg JS, St George-Hyslop PH, Robinette CD, Ball MJ (1991), “Anatomic, metabolic, neuropsychological, and molecular genetic studies of three pairs of identical twins discordant for dementia of the Alzheimer's type.” Arch Neurol 48(2):160-8 Details

1990

Farrer LA, Myers RH, Cupples LA, St George-Hyslop PH, Bird TD, Rossor MN, Mullan MJ, Polinsky R, Nee L, Heston L (1990), “Transmission and age-at-onset patterns in familial Alzheimer's disease: evidence for heterogeneity.” Neurology 40(3 Pt 1):395-403 Details

Grafton ST, Mazziotta JC, Pahl JJ, St George-Hyslop P, Haines JL, Gusella J, Hoffman JM, Baxter LR, Phelps ME (1990), “A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease.” Ann Neurol 28(5):614-21 Details

St George-Hyslop PH, Haines JL, Farrer LA, Polinsky R, Van Broeckhoven C, Goate A, McLachlan DR, Orr H, Bruni AC, Sorbi S, Rainero I, Foncin JF, Pollen D, Cantu JM, Tupler R, Voskresenskaya N, Mayeux R, Growden J, Fried VA, Myers RH, Nee L, Backhovens H, Martin JJ, Rossor M, Owen MJ, Mullan M, Percy ME, Karlinsky H, Rich S, Heston L, Montesi M, Mortilla M, Nacmias N, Gusella JF, Hardy JA, FAD Collaborative Study Group (1990), “Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.” Nature 347(6289):194-7 Details

1989

St George-Hyslop PH, Haines JL, Polinsky RJ, Tanzi RE, Farrer L, Myers RH, Gusella JF (1989), “Molecular genetics of familial Alzheimer's disease.” Can J Neurol Sci 16(4 Suppl):465-7 Details

St George-Hyslop PH, Myers RH, Haines JL, Farrer LA, Tanzi RE, Abe K, James MF, Conneally PM, Polinsky RJ, Gusella JF (1989), “Familial Alzheimer's disease: progress and problems.” Neurobiol Aging 10(5):417-25 Details

St George-Hyslop PH, Tanzi RE, Haines JL, Polinsky RJ, Farrer L, Myers RH, Gusella JF (1989), “Molecular genetics of familial Alzheimer's disease.” Eur Neurol 29 Suppl 3:25-7 Details

Tanzi RE, St George-Hyslop PH, Gusella JF (1989), “Molecular genetic approaches to Alzheimer's disease.” Trends Neurosci 12(4):152-8 Details

1988

Haines JL, Ozelius L, St George-Hyslop P, Wexler NS, Gusella JF, Conneally PM (1988), “Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes.” Genet Epidemiol 5(6):375-80 Details

1987

Seizinger BR, Rouleau G, Ozelius LJ, Lane AH, St George-Hyslop P, Huson S, Gusella JF, Martuza RL (1987), “Common pathogenetic mechanism for three tumor types in bilateral acoustic neurofibromatosis.” Science 236(4799):317-9 Details

St George-Hyslop P, Polinsky R, Haines J, Nee L, Tanzi R, Conneally P, Growdon J, Myers R, Pollen D, Drachman D (1987), “Search for the familial Alzheimer's disease gene.” J Neural Transm Suppl 24:13-21 Details

St George-Hyslop PH, Tanzi RE, Polinsky RJ, Haines JL, Nee L, Watkins PC, Myers RH, Feldman RG, Pollen D, Drachman D (1987), “The genetic defect causing familial Alzheimer's disease maps on chromosome 21.” Science 235(4791):885-90 Details

St George-Hyslop PH, Tanzi RE, Polinsky RJ, Neve RL, Pollen D, Drachman D, Growdon J, Cupples LA, Nee L, Myers RH (1987), “Absence of duplication of chromosome 21 genes in familial and sporadic Alzheimer's disease.” Science 238(4827):664-6 Details

Tanzi RE, Gusella JF, Watkins PC, Bruns GA, St George-Hyslop P, Van Keuren ML, Patterson D, Pagan S, Kurnit DM, Neve RL (1987), “Amyloid beta protein gene: cDNA, mRNA distribution, and genetic linkage near the Alzheimer locus.” Science 235(4791):880-4 Details

Tanzi RE, St George-Hyslop PH, Haines JL, Polinsky RJ, Nee L, Foncin JF, Neve RL, McClatchey AI, Conneally PM, Gusella JF (1987), “The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.” Nature 329(6135):156-7 Details

1984

Hodder RV, St George-Hyslop P, Chalvardjian A, Bear RA, Thomas P (1984), “Pulmonary malakoplakia.” Thorax 39(1):70-1 Details