Professor David Rubinsztein University positionProfessor Professor David Rubinsztein is pleased to consider applications from prospective PhD students. DepartmentsDepartment of Medical Genetics InstitutesCambridge Institute for Medical Research (CIMR) Home pagehttp://www.cimr.cam.ac.uk/investi... (personal home page) Research ThemesInterestsThe pathogenesis of diseases caused by codon reiteration mutations (like Huntington’s disease and oculopharangeal muscular dystrophy). Description of research: We are studying the pathogenesis of diseases caused by codon reiteration mutations, like Huntington's disease (HD) and oculopharyngeal muscular dystrophy (OPMD), which result from abnormally elongated polyglutamine and polyalanine codon stretches in the HD and PABPN1 genes, respectively. These diseases are associated with intracellular aggregate formation. We are addressing the following questions: 1. What are the early pathological changes that occur in HD and other codon reiteration diseases? 2. What are the genetic pathways that modify polyglutamine toxicity? 3. Can one attenuate polyglutamine toxicity by inducing autophagy? 4. Are there common mechanisms causing pathology in the different diseases associated with intracellular protein aggregation? Research Focus
EquipmentCell culture Confocal microscopy Fluorescence microscopy Immunohistochemistry Recombinant protein expression Collaborators
Associated News Items
Publications2014Escott-Price V, Bellenguez C, Wang LS, Choi SH, Harold D, Jones L, Holmans P, Gerrish A, Vedernikov A, Richards A, DeStefano AL, Lambert JC, Ibrahim-Verbaas CA, Naj AC, Sims R, Jun G, Bis JC, Beecham GW, Grenier-Boley B, Russo G, Thornton-Wells TA, Denning N, Smith AV, Chouraki V, Thomas C, Ikram MA, Zelenika D, Vardarajan BN, Kamatani Y, Lin CF, Schmidt H, Kunkle B, Dunstan ML, Vronskaya M, United Kingdom Brain Expression Consortium, Johnson AD, Ruiz A, Bihoreau MT, Reitz C, Pasquier F, Hollingworth P, Hanon O, Fitzpatrick AL, Buxbaum JD, Campion D, Crane PK, Baldwin C, Becker T, Gudnason V, Cruchaga C, Craig D, Amin N, Berr C, Lopez OL, De Jager PL, Deramecourt V, Johnston JA, Evans D, Lovestone S, Letenneur L, Hernández I, Rubinsztein DC, Eiriksdottir G, Sleegers K, Goate AM, Fiévet N, Huentelman MJ, Gill M, Brown K, Kamboh MI, Keller L, Barberger-Gateau P, McGuinness B, Larson EB, Myers AJ, Dufouil C, Todd S, Wallon D, Love S, Rogaeva E, Gallacher J, George-Hyslop PS, Clarimon J, Lleo A, Bayer A, Tsuang (2014), “Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease.” PLoS One 9(6):e94661 Details Liu G, Yao L, Liu J, Jiang Y, Ma G, Genetic and Environmental Risk for Alzheimer's disease (GERAD1) Consortium, Chen Z, Zhao B, Li K (2014), “Cardiovascular disease contributes to Alzheimer's disease: evidence from large-scale genome-wide association studies.” Neurobiol Aging 35(4):786-92 Details Matilla-Dueñas A, Ashizawa T, Brice A, Magri S, McFarland KN, Pandolfo M, Pulst SM, Riess O, Rubinsztein DC, Schmidt J, Schmidt T, Scoles DR, Stevanin G, Taroni F, Underwood BR, Sánchez I (2014), “Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias.” Cerebellum 13(2):269-302 Details Puri C, Renna M, Bento CF, Moreau K, Rubinsztein DC (2014), “ATG16L1 meets ATG9 in recycling endosomes: additional roles for the plasma membrane and endocytosis in autophagosome biogenesis.” Autophagy 10(1):182-4 Details Scotter EL, Vance C, Nishimura AL, Lee YB, Chen HJ, Urwin H, Sardone V, Mitchell JC, Rogelj B, Rubinsztein DC, Shaw CE (2014), “Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species.” J Cell Sci 127(Pt 6):1263-78 Details Seguin SJ, Morelli FF, Vinet J, Amore D, De Biasi S, Poletti A, Rubinsztein DC, Carra S (2014), “Inhibition of autophagy, lysosome and VCP function impairs stress granule assembly.” Cell Death Differ Details Zavodszky E, Seaman MN, Moreau K, Jimenez-Sanchez M, Breusegem SY, Harbour ME, Rubinsztein DC (2014), “Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy.” Nat Commun 5:3828 Details Zavodszky E, Seaman MN, Rubinsztein DC (2014), “VPS35 Parkinson mutation impairs autophagy via WASH.” Cell Cycle 13(14) Details 2013Bento CF, Puri C, Moreau K, Rubinsztein DC (2013), “The role of membrane-trafficking small GTPases in the regulation of autophagy.” J Cell Sci 126(Pt 5):1059-69 Details Chapman J, Rees E, Harold D, Ivanov D, Gerrish A, Sims R, Hollingworth P, Stretton A, GERAD1 Consortium, Holmans P, Owen MJ, O'Donovan MC, Williams J, Kirov G (2013), “A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk.” Hum Mol Genet 22(4):816-24 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 Hochfeld WE, Lee S, Rubinsztein DC (2013), “Therapeutic induction of autophagy to modulate neurodegenerative disease progression.” Acta Pharmacol Sin 34(5):600-4 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 Lee MJ, Lee JH, Rubinsztein DC (2013), “Tau degradation: the ubiquitin-proteasome system versus the autophagy-lysosome system.” Prog Neurobiol 105:49-59 Details Lee SH, Harold D, Nyholt DR, ANZGene Consortium, International Endogene Consortium, Genetic and Environmental Risk for Alzheimer's disease Consortium, Goddard ME, Zondervan KT, Williams J, Montgomery GW, Wray NR, Visscher PM (2013), “Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.” Hum Mol Genet 22(4):832-41 Details Luo S, Rubinsztein DC (2013), “BCL2L11/BIM: a novel molecular link between autophagy and apoptosis.” Autophagy 9(1):104-5 Details Moreau K, Renna M, Rubinsztein DC (2013), “Connections between SNAREs and autophagy.” Trends Biochem Sci 38(2):57-63 Details Na D, Rouf M, O'Kane CJ, Rubinsztein DC, Gsponer J (2013), “NeuroGeM, a knowledgebase of genetic modifiers in neurodegenerative diseases.” BMC Med Genomics 6:52 Details Puri C, Renna M, Bento CF, Moreau K, Rubinsztein DC (2013), “Diverse autophagosome membrane sources coalesce in recycling endosomes.” Cell 154(6):1285-99 Details Renna M, Bento CF, Fleming A, Menzies FM, Siddiqi FH, Ravikumar B, Puri C, Garcia-Arencibia M, Sadiq O, Corrochano S, Carter S, Brown SD, Acevedo-Arozena A, Rubinsztein DC (2013), “IGF-1 receptor antagonism inhibits autophagy.” Hum Mol Genet 22(22):4528-44 Details Toh PP, Luo S, Menzies FM, Raskó T, Wanker EE, Rubinsztein DC (2013), “Myc inhibition impairs autophagosome formation.” Hum Mol Genet 22(25):5237-48 Details Wu X, Won H, Rubinsztein DC (2013), “Autophagy and mammalian development.” Biochem Soc Trans 41(6):1489-94 Details Zavodszky E, Vicinanza M, Rubinsztein DC (2013), “Biology and trafficking of ATG9 and ATG16L1, two proteins that regulate autophagosome formation.” FEBS Lett 587(13):1988-96 Details Zou F, Belbin O, Carrasquillo MM, Culley OJ, Hunter TA, Ma L, Bisceglio GD, Allen M, Dickson DW, Graff-Radford NR, Petersen RC, Genetic and Environmental Risk for Alzheimer’s disease (GERAD1) Consortium, Morgan K, Younkin SG (2013), “Linking protective GAB2 variants, increased cortical GAB2 expression and decreased Alzheimer's disease pathology.” PLoS One 8(5):e64802 Details 2012Corrochano S, Renna M, Carter S, Chrobot N, Kent R, Stewart M, Cooper J, Brown SD, Rubinsztein DC, Acevedo-Arozena A (2012), “?-Synuclein levels modulate Huntington's disease in mice.” Hum Mol Genet 21(3):485-94 Details Corrochano S, Renna M, Tomas-Zapico C, Brown SD, Lucas JJ, Rubinsztein DC, Acevedo-Arozena A (2012), “?-Synuclein levels affect autophagosome numbers in vivo and modulate Huntington disease pathology.” Autophagy 8(3):431-2 Details Galluzzi L, Vitale I, Abrams JM, Alnemri ES, Baehrecke EH, Blagosklonny MV, Dawson TM, Dawson VL, El-Deiry WS, Fulda S, Gottlieb E, Green DR, Hengartner MO, Kepp O, Knight RA, Kumar S, Lipton SA, Lu X, Madeo F, Malorni W, Mehlen P, Nuñez G, Peter ME, Piacentini M, Rubinsztein DC, Shi Y, Simon HU, Vandenabeele P, White E, Yuan J, Zhivotovsky B, Melino G, Kroemer G (2012), “Molecular definitions of cell death subroutines: recommendations of the Nomenclature Committee on Cell Death 2012.” Cell Death Differ 19(1):107-20 Details Gerrish A, Russo G, Richards A, Moskvina V, Ivanov D, Harold D, Sims R, Abraham R, Hollingworth P, Chapman J, Hamshere M, Pahwa JS, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Kölsch H, Heun R, Schürmann B, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Davies G, Harris SE, Starr JM, Deary IJ, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Jones L, Holmans PA, O'Donovan MC, Owen MJ, Williams J (2012), “The role of variation at A?PP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.” J Alzheimers Dis 28(2):377-87 Details Hamilton G, Harris SE, Davies G, Liewald DC, Tenesa A, Payton A, Horan MA, Ollier WE, Pendleton N, Genetic and Environmental Risk for Alzheimer's Disease (GERAD1) Consortium, Starr JM, Porteous D, Deary IJ (2012), “The role of ECE1 variants in cognitive ability in old age and Alzheimer's disease risk.” Am J Med Genet B Neuropsychiatr Genet 159B(6):696-709 Details Hamilton G, Killick R, Genetic and Environmental Risk for Alzheimer's Disease Consortium, Translational Genomics Research Institute Consortium, Lambert JC, Amouyel P, European Alzheimer Disease Initiative, Carrasquillo MM, Pankratz VS, Graff-Radford NR, Dickson DW, Petersen RC, Younkin SG, Powell JF, Wade-Martins R (2012), “Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus.” Neurobiol Aging 33(8):1848.e1-13 Details Hollingworth P, Sweet R, Sims R, Harold D, Russo G, Abraham R, Stretton A, Jones N, Gerrish A, Chapman J, Ivanov D, Moskvina V, Lovestone S, Priotsi P, Lupton M, Brayne C, Gill M, Lawlor B, Lynch A, Craig D, McGuinness B, Johnston J, Holmes C, Livingston G, Bass NJ, Gurling H, McQuillin A, GERAD Consortium, National Institute on Aging Late-Onset Alzheimer's Disease Family Study Group, Holmans P, Jones L, Devlin B, Klei L, Barmada MM, Demirci FY, DeKosky ST, Lopez OL, Passmore P, Owen MJ, O'Donovan MC, Mayeux R, Kamboh MI, Williams J (2012), “Genome-wide association study of Alzheimer's disease with psychotic symptoms.” Mol Psychiatry 17(12):1316-27 Details Hudson G, Sims R, Harold D, Chapman J, Hollingworth P, Gerrish A, Russo G, Hamshere M, Moskvina V, Jones N, Thomas C, Stretton A, Holmans PA, O'Donovan MC, Owen MJ, Williams J, Chinnery PF, GERAD1 Consortium (2012), “No consistent evidence for association between mtDNA variants and Alzheimer disease.” Neurology 78(14):1038-42 Details Jenal M, Elkon R, Loayza-Puch F, van Haaften G, Kühn U, Menzies FM, Oude Vrielink JA, Bos AJ, Drost J, Rooijers K, Rubinsztein DC, Agami R (2012), “The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.” Cell 149(3):538-53 Details Jimenez-Sanchez M, Menzies FM, Chang YY, Simecek N, Neufeld TP, Rubinsztein DC (2012), “The Hedgehog signalling pathway regulates autophagy.” Nat Commun 3:1200 Details Jimenez-Sanchez M, Thomson F, Zavodszky E, Rubinsztein DC (2012), “Autophagy and polyglutamine diseases.” Prog Neurobiol 97(2):67-82 Details Klionsky DJ, Abdalla FC, Abeliovich H, Abraham RT, Acevedo-Arozena A, Adeli K, Agholme L, Agnello M, Agostinis P, Aguirre-Ghiso JA, Ahn HJ, Ait-Mohamed O, Ait-Si-Ali S, Akematsu T, Akira S, Al-Younes HM, Al-Zeer MA, Albert ML, Albin RL, Alegre-Abarrategui J, Aleo MF, Alirezaei M, Almasan A, Almonte-Becerril M, Amano A, Amaravadi R, Amarnath S, Amer AO, Andrieu-Abadie N, Anantharam V, Ann DK, Anoopkumar-Dukie S, Aoki H, Apostolova N, Arancia G, Aris JP, Asanuma K, Asare NY, Ashida H, Askanas V, Askew DS, Auberger P, Baba M, Backues SK, Baehrecke EH, Bahr BA, Bai XY, Bailly Y, Baiocchi R, Baldini G, Balduini W, Ballabio A, Bamber BA, Bampton ET, Bánhegyi G, Bartholomew CR, Bassham DC, Bast RC Jr, Batoko H, Bay BH, Beau I, Béchet DM, Begley TJ, Behl C, Behrends C, Bekri S, Bellaire B, Bendall LJ, Benetti L, Berliocchi L, Bernardi H, Bernassola F, Besteiro S, Bhatia-Kissova I, Bi X, Biard-Piechaczyk M, Blum JS, Boise LH, Bonaldo P, Boone DL, Bornhauser BC, Bortoluci KR, Bossis I, Bost F, Bourquin JP, Boya P, Boy (2012), “Guidelines for the use and interpretation of assays for monitoring autophagy.” Autophagy 8(4):445-544 Details Luo S, Garcia-Arencibia M, Zhao R, Puri C, Toh PP, Sadiq O, Rubinsztein DC (2012), “Bim inhibits autophagy by recruiting Beclin 1 to microtubules.” Mol Cell 47(3):359-70 Details Menzies FM, Moreau K, Puri C, Renna M, Rubinsztein DC (2012), “Measurement of autophagic activity in mammalian cells.” Curr Protoc Cell Biol Chapter 15:Unit 15.16 Details Metcalf DJ, García-Arencibia M, Hochfeld WE, Rubinsztein DC (2012), “Autophagy and misfolded proteins in neurodegeneration.” Exp Neurol 238(1):22-8 Details Moreau K, Ravikumar B, Puri C, Rubinsztein DC (2012), “Arf6 promotes autophagosome formation via effects on phosphatidylinositol 4,5-bisphosphate and phospholipase D.” J Cell Biol 196(4):483-96 Details Moreau K, Rubinsztein DC (2012), “The plasma membrane as a control center for autophagy.” Autophagy 8(5):861-3 Details Proitsi P, Lupton MK, Dudbridge F, Tsolaki M, Hamilton G, Daniilidou M, Pritchard M, Lord K, Martin BM, Johnson J, Craig D, Todd S, McGuinness B, Hollingworth P, Harold D, Kloszewska I, Soininen H, Mecocci P, Velas B, Gill M, Lawlor B, Rubinsztein DC, Brayne C, Passmore PA, Williams J, Lovestone S, Powell JF (2012), “Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation.” Neurobiol Aging 33(8):1843.e9-17 Details Proitsi P, Lupton MK, Reeves SJ, Hamilton G, Archer N, Martin BM, Iyegbe C, Hollingworth P, Lawlor B, Gill M, Brayne C, Rubinsztein DC, Owen MJ, Williams J, Lovestone S, Powell JF (2012), “Association of serotonin and dopamine gene pathways with behavioral subphenotypes in dementia.” Neurobiol Aging 33(4):791-803 Details Rubinsztein DC (2012), “Autophagy--alias self-eating--appetite and ageing.” EMBO Rep 13(3):173-4 Details Rubinsztein DC, Codogno P, Levine B (2012), “Autophagy modulation as a potential therapeutic target for diverse diseases.” Nat Rev Drug Discov 11(9):709-30 Details Rubinsztein DC, Shpilka T, Elazar Z (2012), “Mechanisms of autophagosome biogenesis.” Curr Biol 22(1):R29-34 Details Shi H, Belbin O, Medway C, Brown K, Kalsheker N, Carrasquillo M, Proitsi P, Powell J, Lovestone S, Goate A, Younkin S, Passmore P, Genetic and Environmental Risk for Alzheimer's Disease Consortium, Morgan K, Alzheimer's Research UK Consortium (2012), “Genetic variants influencing human aging from late-onset Alzheimer's disease (LOAD) genome-wide association studies (GWAS).” Neurobiol Aging 33(8):1849.e5-18 Details 2011Davies JE, Rubinsztein DC (2011), “Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy.” Hum Mol Genet 20(6):1154-63 Details Fleming A, Noda T, Yoshimori T, Rubinsztein DC (2011), “Chemical modulators of autophagy as biological probes and potential therapeutics.” Nat Chem Biol 7(1):9-17 Details Fleming A, Rubinsztein DC (2011), “Zebrafish as a model to understand autophagy and its role in neurological disease.” Biochim Biophys Acta 1812(4):520-6 Details Harris H, Rubinsztein DC (2011), “Control of autophagy as a therapy for neurodegenerative disease.” Nat Rev Neurol 8(2):108-17 Details Hollingworth P, Harold D, Sims R, Gerrish A, Lambert JC, Carrasquillo MM, Abraham R, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Jones N, Stretton A, Thomas C, Richards A, Ivanov D, Widdowson C, Chapman J, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Beaumont H, Warden D, Wilcock G, Love S, Kehoe PG, Hooper NM, Vardy ER, Hardy J, Mead S, Fox NC, Rossor M, Collinge J, Maier W, Jessen F, Rüther E, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Gallacher J, Hüll M, Rujescu D, Giegling I, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichman (2011), “Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.” Nat Genet 43(5):429-35 Details Klionsky DJ, Baehrecke EH, Brumell JH, Chu CT, Codogno P, Cuervo AM, Debnath J, Deretic V, Elazar Z, Eskelinen EL, Finkbeiner S, Fueyo-Margareto J, Gewirtz D, Jäättelä M, Kroemer G, Levine B, Melia TJ, Mizushima N, Rubinsztein DC, Simonsen A, Thorburn A, Thumm M, Tooze SA (2011), “A comprehensive glossary of autophagy-related molecules and processes (2nd edition).” Autophagy 7(11):1273-94 Details Korolchuk VI, Rubinsztein DC (2011), “Regulation of autophagy by lysosomal positioning.” Autophagy 7(8):927-8 Details Korolchuk VI, Saiki S, Lichtenberg M, Siddiqi FH, Roberts EA, Imarisio S, Jahreiss L, Sarkar S, Futter M, Menzies FM, O'Kane CJ, Deretic V, Rubinsztein DC (2011), “Lysosomal positioning coordinates cellular nutrient responses.” Nat Cell Biol 13(4):453-60 Details Lichtenberg M, Mansilla A, Zecchini VR, Fleming A, Rubinsztein DC (2011), “The Parkinson's disease protein LRRK2 impairs proteasome substrate clearance without affecting proteasome catalytic activity.” Cell Death Dis 2:e196 Details Menzies FM, Moreau K, Rubinsztein DC (2011), “Protein misfolding disorders and macroautophagy.” Curr Opin Cell Biol 23(2):190-7 Details Moreau K, Ravikumar B, Renna M, Puri C, Rubinsztein DC (2011), “Autophagosome precursor maturation requires homotypic fusion.” Cell 146(2):303-17 Details Proitsi P, Hamilton G, Tsolaki M, Lupton M, Daniilidou M, Hollingworth P, Archer N, Foy C, Stylios F, McGuinness B, Todd S, Lawlor B, Gill M, Brayne C, Rubinsztein DC, Owen M, Williams J, Craig D, Passmore P, Lovestone S, Powell JF (2011), “A Multiple Indicators Multiple Causes (MIMIC) model of Behavioural and Psychological Symptoms in Dementia (BPSD).” Neurobiol Aging 32(3):434-42 Details Renna M, Schaffner C, Brown K, Shang S, Tamayo MH, Hegyi K, Grimsey NJ, Cusens D, Coulter S, Cooper J, Bowden AR, Newton SM, Kampmann B, Helm J, Jones A, Haworth CS, Basaraba RJ, DeGroote MA, Ordway DJ, Rubinsztein DC, Floto RA (2011), “Azithromycin blocks autophagy and may predispose cystic fibrosis patients to mycobacterial infection.” J Clin Invest 121(9):3554-63 Details Renna M, Schaffner C, Winslow AR, Menzies FM, Peden AA, Floto RA, Rubinsztein DC (2011), “Autophagic substrate clearance requires activity of the syntaxin-5 SNARE complex.” J Cell Sci 124(Pt 3):469-82 Details Rubinsztein DC, Mariño G, Kroemer G (2011), “Autophagy and aging.” Cell 146(5):682-95 Details Sarkar S, Korolchuk VI, Renna M, Imarisio S, Fleming A, Williams A, Garcia-Arencibia M, Rose C, Luo S, Underwood BR, Kroemer G, O'Kane CJ, Rubinsztein DC (2011), “Complex inhibitory effects of nitric oxide on autophagy.” Mol Cell 43(1):19-32 Details Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, Erdin SU, Huynh T, Medina D, Colella P, Sardiello M, Rubinsztein DC, Ballabio A (2011), “TFEB links autophagy to lysosomal biogenesis.” Science 332(6036):1429-33 Details Sims R, Dwyer S, Harold D, Gerrish A, Hollingworth P, Chapman J, Jones N, Abraham R, Ivanov D, Pahwa JS, Moskvina V, Dowzell K, Thomas C, Stretton A, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuiness B, Todd S, Johnston JA, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Livingston G, Bass NJ, Gurling H, McQuillin A, Jones L, Holmans PA, O'Donovan M, Owen MJ, Williams J (2011), “No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.” Am J Med Genet B Neuropsychiatr Genet 156B(7):764-71 Details Winslow AR, Rubinsztein DC (2011), “The Parkinson disease protein ?-synuclein inhibits autophagy.” Autophagy 7(4):429-31 Details 2010Aguado C, Sarkar S, Korolchuk VI, Criado O, Vernia S, Boya P, Sanz P, de Córdoba SR, Knecht E, Rubinsztein DC (2010), “Laforin, the most common protein mutated in Lafora disease, regulates autophagy.” Hum Mol Genet 19(14):2867-76 Details Cluett C, Brayne C, Clarke R, Evans G, Matthews F, Rubinsztein DC, Huppert F, Llewellyn DJ, Rice N, Henley W, Frayling TM, Murray A, Melzer D (2010), “Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people.” Neurobiol Aging 31(9):1563-8 Details Davies JE, Rose C, Sarkar S, Rubinsztein DC (2010), “Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy.” Sci Transl Med 2(34):34ra40 Details Eriguchi M, Mizuta H, Luo S, Kuroda Y, Hara H, Rubinsztein DC (2010), “alpha Pix enhances mutant huntingtin aggregation.” J Neurol Sci 290(1-2):80-5 Details García-Arencibia M, Hochfeld WE, Toh PP, Rubinsztein DC (2010), “Autophagy, a guardian against neurodegeneration.” Semin Cell Dev Biol 21(7):691-8 Details Jones L, Holmans PA, Hamshere ML, Harold D, Moskvina V, Ivanov D, Pocklington A, Abraham R, Hollingworth P, Sims R, Gerrish A, Pahwa JS, Jones N, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, Kölsch H, van den Bussche H, Heuser I, Peters O, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Rüther E, Carrasquillo MM, Pankratz VS, Younkin SG, Hardy J, O'Donovan MC, Owen MJ, Williams J (2010), “Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.” PLoS One 5(11):e13950 Details Keage HA, Matthews FE, Yip A, Gao L, McCracken C, McKeith IG, Rubinsztein DC, Brayne C, MRC Cognitive Function and Ageing Study (2010), “APOE and ACE polymorphisms and dementia risk in the older population over prolonged follow-up: 10 years of incidence in the MRC CFA Study.” Age Ageing 39(1):104-11 Details Klionsky DJ, Codogno P, Cuervo AM, Deretic V, Elazar Z, Fueyo-Margareto J, Gewirtz DA, Kroemer G, Levine B, Mizushima N, Rubinsztein DC, Thumm M, Tooze SA (2010), “A comprehensive glossary of autophagy-related molecules and processes.” Autophagy 6(4):438-48 Details Knecht E, Aguado C, Sarkar S, Korolchuk VI, Criado-García O, Vernia S, Boya P, Sanz P, Rodríguez de Córdoba S, Rubinsztein DC (2010), “Impaired autophagy in Lafora disease.” Autophagy 6(7):991-3 Details Korolchuk VI, Menzies FM, Rubinsztein DC (2010), “Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems.” FEBS Lett 584(7):1393-8 Details Luo S, Rubinsztein DC (2010), “Apoptosis blocks Beclin 1-dependent autophagosome synthesis: an effect rescued by Bcl-xL.” Cell Death Differ 17(2):268-77 Details Menzies FM, Hourez R, Imarisio S, Raspe M, Sadiq O, Chandraratna D, O'Kane C, Rock KL, Reits E, Goldberg AL, Rubinsztein DC (2010), “Puromycin-sensitive aminopeptidase protects against aggregation-prone proteins via autophagy.” Hum Mol Genet 19(23):4573-86 Details Menzies FM, Huebener J, Renna M, Bonin M, Riess O, Rubinsztein DC (2010), “Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3.” Brain 133(Pt 1):93-104 Details Menzies FM, Rubinsztein DC (2010), “Broadening the therapeutic scope for rapamycin treatment.” Autophagy 6(2):286-7 Details Moreau K, Luo S, Rubinsztein DC (2010), “Cytoprotective roles for autophagy.” Curr Opin Cell Biol 22(2):206-11 Details Ravikumar B, Moreau K, Jahreiss L, Puri C, Rubinsztein DC (2010), “Plasma membrane contributes to the formation of pre-autophagosomal structures.” Nat Cell Biol 12(8):747-57 Details Ravikumar B, Moreau K, Rubinsztein DC (2010), “Plasma membrane helps autophagosomes grow.” Autophagy 6(8):1184-6 Details Ravikumar B, Sarkar S, Davies JE, Futter M, Garcia-Arencibia M, Green-Thompson ZW, Jimenez-Sanchez M, Korolchuk VI, Lichtenberg M, Luo S, Massey DC, Menzies FM, Moreau K, Narayanan U, Renna M, Siddiqi FH, Underwood BR, Winslow AR, Rubinsztein DC (2010), “Regulation of mammalian autophagy in physiology and pathophysiology.” Physiol Rev 90(4):1383-435 Details Renna M, Jimenez-Sanchez M, Sarkar S, Rubinsztein DC (2010), “Chemical inducers of autophagy that enhance the clearance of mutant proteins in neurodegenerative diseases.” J Biol Chem 285(15):11061-7 Details Rodriguez-Cuenca S, Cochemé HM, Logan A, Abakumova I, Prime TA, Rose C, Vidal-Puig A, Smith AC, Rubinsztein DC, Fearnley IM, Jones BA, Pope S, Heales SJ, Lam BY, Neogi SG, McFarlane I, James AM, Smith RA, Murphy MP (2010), “Consequences of long-term oral administration of the mitochondria-targeted antioxidant MitoQ to wild-type mice.” Free Radic Biol Med 48(1):161-72 Details Rose C, Menzies FM, Renna M, Acevedo-Arozena A, Corrochano S, Sadiq O, Brown SD, Rubinsztein DC (2010), “Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease.” Hum Mol Genet 19(11):2144-53 Details Rubinsztein DC (2010), “Cdks regulate autophagy via Vps34.” Mol Cell 38(4):483-4 Details Rubinsztein DC (2010), “Autophagy: where next?” EMBO Rep 11(1):3 Details Rubinsztein DC, Nixon RA (2010), “Rapamycin induces autophagic flux in neurons.” Proc Natl Acad Sci U S A 107(49):E181; author reply E182 Details Trollet C, Anvar SY, Venema A, Hargreaves IP, Foster K, Vignaud A, Ferry A, Negroni E, Hourde C, Baraibar MA, 't Hoen PA, Davies JE, Rubinsztein DC, Heales SJ, Mouly V, van der Maarel SM, Butler-Browne G, Raz V, Dickson G (2010), “Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.” Hum Mol Genet 19(11):2191-207 Details Underwood BR, Imarisio S, Fleming A, Rose C, Krishna G, Heard P, Quick M, Korolchuk VI, Renna M, Sarkar S, García-Arencibia M, O'Kane CJ, Murphy MP, Rubinsztein DC (2010), “Antioxidants can inhibit basal autophagy and enhance neurodegeneration in models of polyglutamine disease.” Hum Mol Genet 19(17):3413-29 Details van Ham TJ, Holmberg MA, van der Goot AT, Teuling E, Garcia-Arencibia M, Kim HE, Du D, Thijssen KL, Wiersma M, Burggraaff R, van Bergeijk P, van Rheenen J, Jerre van Veluw G, Hofstra RM, Rubinsztein DC, Nollen EA (2010), “Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.” Cell 142(4):601-12 Details Winslow AR, Chen CW, Corrochano S, Acevedo-Arozena A, Gordon DE, Peden AA, Lichtenberg M, Menzies FM, Ravikumar B, Imarisio S, Brown S, O'Kane CJ, Rubinsztein DC (2010), “?-Synuclein impairs macroautophagy: implications for Parkinson's disease.” J Cell Biol 190(6):1023-37 Details Zheng S, Clabough EB, Sarkar S, Futter M, Rubinsztein DC, Zeitlin SO (2010), “Deletion of the huntingtin polyglutamine stretch enhances neuronal autophagy and longevity in mice.” PLoS Genet 6(2):e1000838 Details 2009Diekmann H, Anichtchik O, Fleming A, Futter M, Goldsmith P, Roach A, Rubinsztein DC (2009), “Decreased BDNF levels are a major contributor to the embryonic phenotype of huntingtin knockdown zebrafish.” J Neurosci 29(5):1343-9 Details Futter M, Diekmann H, Schoenmakers E, Sadiq O, Chatterjee K, Rubinsztein DC (2009), “Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors.” J Med Genet 46(7):438-46 Details Galluzzi L, Aaronson SA, Abrams J, Alnemri ES, Andrews DW, Baehrecke EH, Bazan NG, Blagosklonny MV, Blomgren K, Borner C, Bredesen DE, Brenner C, Castedo M, Cidlowski JA, Ciechanover A, Cohen GM, De Laurenzi V, De Maria R, Deshmukh M, Dynlacht BD, El-Deiry WS, Flavell RA, Fulda S, Garrido C, Golstein P, Gougeon ML, Green DR, Gronemeyer H, Hajnóczky G, Hardwick JM, Hengartner MO, Ichijo H, Jäättelä M, Kepp O, Kimchi A, Klionsky DJ, Knight RA, Kornbluth S, Kumar S, Levine B, Lipton SA, Lugli E, Madeo F, Malomi W, Marine JC, Martin SJ, Medema JP, Mehlen P, Melino G, Moll UM, Morselli E, Nagata S, Nicholson DW, Nicotera P, Nuñez G, Oren M, Penninger J, Pervaiz S, Peter ME, Piacentini M, Prehn JH, Puthalakath H, Rabinovich GA, Rizzuto R, Rodrigues CM, Rubinsztein DC, Rudel T, Scorrano L, Simon HU, Steller H, Tschopp J, Tsujimoto Y, Vandenabeele P, Vitale I, Vousden KH, Youle RJ, Yuan J, Zhivotovsky B, Kroemer G (2009), “Guidelines for the use and interpretation of assays for monitoring cell death in higher eukaryotes.” Cell Death Differ 16(8):1093-107 Details Harold D, Abraham R, Hollingworth P, Sims R, Gerrish A, Hamshere ML, Pahwa JS, Moskvina V, Dowzell K, Williams A, Jones N, Thomas C, Stretton A, Morgan AR, Lovestone S, Powell J, Proitsi P, Lupton MK, Brayne C, Rubinsztein DC, Gill M, Lawlor B, Lynch A, Morgan K, Brown KS, Passmore PA, Craig D, McGuinness B, Todd S, Holmes C, Mann D, Smith AD, Love S, Kehoe PG, Hardy J, Mead S, Fox N, Rossor M, Collinge J, Maier W, Jessen F, Schürmann B, Heun R, van den Bussche H, Heuser I, Kornhuber J, Wiltfang J, Dichgans M, Frölich L, Hampel H, Hüll M, Rujescu D, Goate AM, Kauwe JS, Cruchaga C, Nowotny P, Morris JC, Mayo K, Sleegers K, Bettens K, Engelborghs S, De Deyn PP, Van Broeckhoven C, Livingston G, Bass NJ, Gurling H, McQuillin A, Gwilliam R, Deloukas P, Al-Chalabi A, Shaw CE, Tsolaki M, Singleton AB, Guerreiro R, Mühleisen TW, Nöthen MM, Moebus S, Jöckel KH, Klopp N, Wichmann HE, Carrasquillo MM, Pankratz VS, Younkin SG, Holmans PA, O'Donovan M, Owen MJ, Williams J (2009), “Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.” Nat Genet 41(10):1088-93 Details Jahreiss L, Renna M, Bittman R, Arthur G, Rubinsztein DC (2009), “1-O-Hexadecyl-2-O-methyl-3-O-(2'-acetamido-2'-deoxy-beta-D-glucopyranosyl)-sn-glycerol (Gln) induces cell death with more autophagosomes which is autophagy-independent.” Autophagy 5(6):835-46 Details Korolchuk VI, Mansilla A, Menzies FM, Rubinsztein DC (2009), “Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates.” Mol Cell 33(4):517-27 Details Korolchuk VI, Menzies FM, Rubinsztein DC (2009), “A novel link between autophagy and the ubiquitin-proteasome system.” Autophagy 5(6):862-3 Details Luo S, Rubinsztein DC (2009), “Huntingtin promotes cell survival by preventing Pak2 cleavage.” J Cell Sci 122(Pt 6):875-85 Details Morgan AR, Hollingworth P, Abraham R, Lovestone S, Brayne C, Rubinsztein DC, Lynch A, Lawlor B, Gill M, O'Donovan MC, Owen MJ, Williams J (2009), “Association analysis of dynamin-binding protein (DNMBP) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample.” Am J Med Genet B Neuropsychiatr Genet 150B(1):61-4 Details Ravikumar B, Futter M, Jahreiss L, Korolchuk VI, Lichtenberg M, Luo S, Massey DC, Menzies FM, Narayanan U, Renna M, Jimenez-Sanchez M, Sarkar S, Underwood B, Winslow A, Rubinsztein DC (2009), “Mammalian macroautophagy at a glance.” J Cell Sci 122(Pt 11):1707-11 Details Rubinsztein DC, Cuervo AM, Ravikumar B, Sarkar S, Korolchuk V, Kaushik S, Klionsky DJ (2009), “In search of an "autophagomometer".” Autophagy 5(5):585-9 Details Sarkar S, Korolchuk V, Renna M, Winslow A, Rubinsztein DC (2009), “Methodological considerations for assessing autophagy modulators: a study with calcium phosphate precipitates.” Autophagy 5(3):307-13 Details Sarkar S, Ravikumar B, Floto RA, Rubinsztein DC (2009), “Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies.” Cell Death Differ 16(1):46-56 Details Sarkar S, Ravikumar B, Rubinsztein DC (2009), “Autophagic clearance of aggregate-prone proteins associated with neurodegeneration.” Methods Enzymol 453:83-110 Details 2008Anichtchik O, Diekmann H, Fleming A, Roach A, Goldsmith P, Rubinsztein DC (2008), “Loss of PINK1 function affects development and results in neurodegeneration in zebrafish.” J Neurosci 28(33):8199-207 Details Davies JE, Sarkar S, Rubinsztein DC (2008), “Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.” Hum Mol Genet 17(8):1097-108 Details Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, Krishna G, Davies JE, Ttofi E, Underwood BR, Rubinsztein DC (2008), “Huntington's disease: from pathology and genetics to potential therapies.” Biochem J 412(2):191-209 Details Jahreiss L, Menzies FM, Rubinsztein DC (2008), “The itinerary of autophagosomes: from peripheral formation to kiss-and-run fusion with lysosomes.” Traffic 9(4):574-87 Details Klionsky DJ, Abeliovich H, Agostinis P, Agrawal DK, Aliev G, Askew DS, Baba M, Baehrecke EH, Bahr BA, Ballabio A, Bamber BA, Bassham DC, Bergamini E, Bi X, Biard-Piechaczyk M, Blum JS, Bredesen DE, Brodsky JL, Brumell JH, Brunk UT, Bursch W, Camougrand N, Cebollero E, Cecconi F, Chen Y, Chin LS, Choi A, Chu CT, Chung J, Clarke PG, Clark RS, Clarke SG, Clavé C, Cleveland JL, Codogno P, Colombo MI, Coto-Montes A, Cregg JM, Cuervo AM, Debnath J, Demarchi F, Dennis PB, Dennis PA, Deretic V, Devenish RJ, Di Sano F, Dice JF, Difiglia M, Dinesh-Kumar S, Distelhorst CW, Djavaheri-Mergny M, Dorsey FC, Dröge W, Dron M, Dunn WA Jr, Duszenko M, Eissa NT, Elazar Z, Esclatine A, Eskelinen EL, Fésüs L, Finley KD, Fuentes JM, Fueyo J, Fujisaki K, Galliot B, Gao FB, Gewirtz DA, Gibson SB, Gohla A, Goldberg AL, Gonzalez R, González-Estévez C, Gorski S, Gottlieb RA, Häussinger D, He YW, Heidenreich K, Hill JA, Høyer-Hansen M, Hu X, Huang WP, Iwasaki A, Jäättelä M, Jackson WT, Jiang X, Jin S, Johansen T, Jung JU, Kadowaki M, Ka (2008), “Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes.” Autophagy 4(2):151-75 Details Klionsky DJ, Elazar Z, Seglen PO, Rubinsztein DC (2008), “Does bafilomycin A1 block the fusion of autophagosomes with lysosomes?” Autophagy 4(7):849-50 Details Li Y, Grupe A, Rowland C, Holmans P, Segurado R, Abraham R, Jones L, Catanese J, Ross D, Mayo K, Martinez M, Hollingworth P, Goate A, Cairns NJ, Racette BA, Perlmutter JS, O'Donovan MC, Morris JC, Brayne C, Rubinsztein DC, Lovestone S, Thal LJ, Owen MJ, Williams J (2008), “Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease.” Hum Mol Genet 17(5):759-67 Details Luo S, Mizuta H, Rubinsztein DC (2008), “p21-activated kinase 1 promotes soluble mutant huntingtin self-interaction and enhances toxicity.” Hum Mol Genet 17(6):895-905 Details Morgan AR, Hamilton G, Turic D, Jehu L, Harold D, Abraham R, Hollingworth P, Moskvina V, Brayne C, Rubinsztein DC, Lynch A, Lawlor B, Gill M, O'Donovan M, Powell J, Lovestone S, Williams J, Owen MJ (2008), “Association analysis of 528 intra-genic SNPs in a region of chromosome 10 linked to late onset Alzheimer's disease.” Am J Med Genet B Neuropsychiatr Genet 147B(6):727-31 Details Ravikumar B, Imarisio S, Sarkar S, O'Kane CJ, Rubinsztein DC (2008), “Rab5 modulates aggregation and toxicity of mutant huntingtin through macroautophagy in cell and fly models of Huntington disease.” J Cell Sci 121(Pt 10):1649-60 Details Ravikumar B, Sarkar S, Rubinsztein DC (2008), “Clearance of mutant aggregate-prone proteins by autophagy.” Methods Mol Biol 445:195-211 Details Rubinsztein DC (2008), “Functional genomics approaches to neurodegenerative diseases.” Mamm Genome 19(9):587-90 Details Sarkar S, Krishna G, Imarisio S, Saiki S, O'Kane CJ, Rubinsztein DC (2008), “A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin.” Hum Mol Genet 17(2):170-8 Details Sarkar S, Rubinsztein DC (2008), “Small molecule enhancers of autophagy for neurodegenerative diseases.” Mol Biosyst 4(9):895-901 Details Sarkar S, Rubinsztein DC (2008), “Huntington's disease: degradation of mutant huntingtin by autophagy.” FEBS J 275(17):4263-70 Details Settembre C, Fraldi A, Jahreiss L, Spampanato C, Venturi C, Medina D, de Pablo R, Tacchetti C, Rubinsztein DC, Ballabio A (2008), “A block of autophagy in lysosomal storage disorders.” Hum Mol Genet 17(1):119-29 Details Settembre C, Fraldi A, Rubinsztein DC, Ballabio A (2008), “Lysosomal storage diseases as disorders of autophagy.” Autophagy 4(1):113-4 Details Underwood BR, Rubinsztein DC (2008), “Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies.” Cerebellum 7(2):215-21 Details Williams A, Sarkar S, Cuddon P, Ttofi EK, Saiki S, Siddiqi FH, Jahreiss L, Fleming A, Pask D, Goldsmith P, O'Kane CJ, Floto RA, Rubinsztein DC (2008), “Novel targets for Huntington's disease in an mTOR-independent autophagy pathway.” Nat Chem Biol 4(5):295-305 Details Winslow AR, Rubinsztein DC (2008), “Autophagy in neurodegeneration and development.” Biochim Biophys Acta 1782(12):723-9 Details 2007Chakrabortee S, Boschetti C, Walton LJ, Sarkar S, Rubinsztein DC, Tunnacliffe A (2007), “Hydrophilic protein associated with desiccation tolerance exhibits broad protein stabilization function.” Proc Natl Acad Sci U S A 104(46):18073-8 Details Davies JE, Sarkar S, Rubinsztein DC (2007), “The ubiquitin proteasome system in Huntington's disease and the spinocerebellar ataxias.” BMC Biochem 8 Suppl 1:S2 Details Floto RA, Sarkar S, Perlstein EO, Kampmann B, Schreiber SL, Rubinsztein DC (2007), “Small molecule enhancers of rapamycin-induced TOR inhibition promote autophagy, reduce toxicity in Huntington's disease models and enhance killing of mycobacteria by macrophages.” Autophagy 3(6):620-2 Details Harold D, Jehu L, Turic D, Hollingworth P, Moore P, Summerhayes P, Moskvina V, Foy C, Archer N, Hamilton BA, Lovestone S, Powell J, Brayne C, Rubinsztein DC, Jones L, O'Donovan MC, Owen MJ, Williams J (2007), “Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease.” Am J Med Genet B Neuropsychiatr Genet 144B(4):448-52 Details Luo S, Rubinsztein DC (2007), “Atg5 and Bcl-2 provide novel insights into the interplay between apoptosis and autophagy.” Cell Death Differ 14(7):1247-50 Details Morgan AR, Turic D, Jehu L, Hamilton G, Hollingworth P, Moskvina V, Jones L, Lovestone S, Brayne C, Rubinsztein DC, Lawlor B, Gill M, O'Donovan MC, Owen MJ, Williams J (2007), “Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.” Am J Med Genet B Neuropsychiatr Genet 144B(6):762-70 Details Neville MJ, Clarke R, Evans JG, Rubinsztein DC, Karpe F (2007), “Absence of relationship between MTTP haplotypes and longevity.” J Gerontol A Biol Sci Med Sci 62(2):202-5 Details Rubinsztein DC (2007), “Autophagy induction rescues toxicity mediated by proteasome inhibition.” Neuron 54(6):854-6 Details Rubinsztein DC, Gestwicki JE, Murphy LO, Klionsky DJ (2007), “Potential therapeutic applications of autophagy.” Nat Rev Drug Discov 6(4):304-12 Details Sarkar S, Davies JE, Huang Z, Tunnacliffe A, Rubinsztein DC (2007), “Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein.” J Biol Chem 282(8):5641-52 Details Sarkar S, Perlstein EO, Imarisio S, Pineau S, Cordenier A, Maglathlin RL, Webster JA, Lewis TA, O'Kane CJ, Schreiber SL, Rubinsztein DC (2007), “Small molecules enhance autophagy and reduce toxicity in Huntington's disease models.” Nat Chem Biol 3(6):331-8 Details Yang H, Zhong X, Ballar P, Luo S, Shen Y, Rubinsztein DC, Monteiro MJ, Fang S (2007), “Ubiquitin ligase Hrd1 enhances the degradation and suppresses the toxicity of polyglutamine-expanded huntingtin.” Exp Cell Res 313(3):538-50 Details 2006Berger Z, Davies JE, Luo S, Pasco MY, Majoul I, O'Kane CJ, Rubinsztein DC (2006), “Deleterious and protective properties of an aggregate-prone protein with a polyalanine expansion.” Hum Mol Genet 15(3):453-65 Details Berger Z, Ravikumar B, Menzies FM, Oroz LG, Underwood BR, Pangalos MN, Schmitt I, Wullner U, Evert BO, O'Kane CJ, Rubinsztein DC (2006), “Rapamycin alleviates toxicity of different aggregate-prone proteins.” Hum Mol Genet 15(3):433-42 Details Ciarmiello A, Cannella M, Lastoria S, Simonelli M, Frati L, Rubinsztein DC, Squitieri F (2006), “Brain white-matter volume loss and glucose hypometabolism precede the clinical symptoms of Huntington's disease.” J Nucl Med 47(2):215-22 Details Davies JE, Berger Z, Rubinsztein DC (2006), “Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder.” Int J Biochem Cell Biol 38(9):1457-62 Details Davies JE, Rubinsztein DC (2006), “Polyalanine and polyserine frameshift products in Huntington's disease.” J Med Genet 43(11):893-6 Details Davies JE, Sarkar S, Rubinsztein DC (2006), “Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy.” Hum Mol Genet 15(1):23-31 Details Hollingworth P, Hamshere ML, Moskvina V, Dowzell K, Moore PJ, Foy C, Archer N, Lynch A, Lovestone S, Brayne C, Rubinsztein DC, Lawlor B, Gill M, Owen MJ, Williams J (2006), “Four components describe behavioral symptoms in 1,120 individuals with late-onset Alzheimer's disease.” J Am Geriatr Soc 54(9):1348-54 Details Li W, Serpell LC, Carter WJ, Rubinsztein DC, Huntington JA (2006), “Expression and characterization of full-length human huntingtin, an elongated HEAT repeat protein.” J Biol Chem 281(23):15916-22 Details Li Y, Grupe A, Rowland C, Nowotny P, Kauwe JS, Smemo S, Hinrichs A, Tacey K, Toombs TA, Kwok S, Catanese J, White TJ, Maxwell TJ, Hollingworth P, Abraham R, Rubinsztein DC, Brayne C, Wavrant-De Vrièze F, Hardy J, O'Donovan M, Lovestone S, Morris JC, Thal LJ, Owen M, Williams J, Goate A (2006), “DAPK1 variants are associated with Alzheimer's disease and allele-specific expression.” Hum Mol Genet 15(17):2560-8 Details Menzies FM, Ravikumar B, Rubinsztein DC (2006), “Protective roles for induction of autophagy in multiple proteinopathies.” Autophagy 2(3):224-5 Details Ravikumar B, Berger Z, Vacher C, O'Kane CJ, Rubinsztein DC (2006), “Rapamycin pre-treatment protects against apoptosis.” Hum Mol Genet 15(7):1209-16 Details Ravikumar B, Rubinsztein DC (2006), “Role of autophagy in the clearance of mutant huntingtin: a step towards therapy?” Mol Aspects Med 27(5-6):520-7 Details Roiser JP, Blackwell AD, Cools R, Clark L, Rubinsztein DC, Robbins TW, Sahakian BJ (2006), “Serotonin transporter polymorphism mediates vulnerability to loss of incentive motivation following acute tryptophan depletion.” Neuropsychopharmacology 31(10):2264-72 Details Rubinsztein DC (2006), “The roles of intracellular protein-degradation pathways in neurodegeneration.” Nature 443(7113):780-6 Details Rubinsztein DC (2006), “Protein-protein interaction networks in the spinocerebellar ataxias.” Genome Biol 7(8):229 Details Rubinsztein DC, Huntington JA (2006), “Paradoxical aggregation versus oligomerisation properties of mutant and wild-type huntingtin fragments.” Exp Neurol 199(2):243-4 Details Sarkar S, Rubinsztein DC (2006), “Inositol and IP3 levels regulate autophagy: biology and therapeutic speculations.” Autophagy 2(2):132-4 Details Underwood BR, Broadhurst D, Dunn WB, Ellis DI, Michell AW, Vacher C, Mosedale DE, Kell DB, Barker RA, Grainger DJ, Rubinsztein DC (2006), “Huntington disease patients and transgenic mice have similar pro-catabolic serum metabolite profiles.” Brain 129(Pt 4):877-86 Details Williams A, Jahreiss L, Sarkar S, Saiki S, Menzies FM, Ravikumar B, Rubinsztein DC (2006), “Aggregate-prone proteins are cleared from the cytosol by autophagy: therapeutic implications.” Curr Top Dev Biol 76:89-101 Details Yanai A, Huang K, Kang R, Singaraja RR, Arstikaitis P, Gan L, Orban PC, Mullard A, Cowan CM, Raymond LA, Drisdel RC, Green WN, Ravikumar B, Rubinsztein DC, El-Husseini A, Hayden MR (2006), “Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function.” Nat Neurosci 9(6):824-31 Details 2005Berger Z, Ttofi EK, Michel CH, Pasco MY, Tenant S, Rubinsztein DC, O'Kane CJ (2005), “Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway.” Hum Mol Genet 14(20):3003-11 Details Clark L, Roiser JP, Cools R, Rubinsztein DC, Sahakian BJ, Robbins TW (2005), “Stop signal response inhibition is not modulated by tryptophan depletion or the serotonin transporter polymorphism in healthy volunteers: implications for the 5-HT theory of impulsivity.” Psychopharmacology (Berl) 182(4):570-8 Details Cong SY, Pepers BA, Evert BO, Rubinsztein DC, Roos RA, van Ommen GJ, Dorsman JC (2005), “Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.” Mol Cell Neurosci 30(4):560-71 Details Cong SY, Pepers BA, Evert BO, Rubinsztein DC, Roos RA, van Ommen GJ, Dorsman JC (2005), “Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.” Mol Cell Neurosci 30(1):12-23 Details Cook LJ, Ho LW, Wang L, Terrenoire E, Brayne C, Evans JG, Xuereb J, Cairns NJ, Turic D, Hollingworth P, Moore PJ, Jehu L, Archer N, Walter S, Foy C, Edmondson A, Powell J, Lovestone S, Williams J, Rubinsztein DC (2005), “Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study.” Am J Med Genet B Neuropsychiatr Genet 132B(1):5-8 Details Davies JE, Wang L, Garcia-Oroz L, Cook LJ, Vacher C, O'Donovan DG, Rubinsztein DC (2005), “Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice.” Nat Med 11(6):672-7 Details Jamieson SE, White JK, Howson JM, Pask R, Smith AN, Brayne C, Evans JG, Xuereb J, Cairns NJ, Rubinsztein DC, Blackwell JM (2005), “Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease.” Neurosci Lett 374(2):124-8 Details Luo S, Vacher C, Davies JE, Rubinsztein DC (2005), “Cdk5 phosphorylation of huntingtin reduces its cleavage by caspases: implications for mutant huntingtin toxicity.” J Cell Biol 169(4):647-56 Details Ravikumar B, Acevedo-Arozena A, Imarisio S, Berger Z, Vacher C, O'Kane CJ, Brown SD, Rubinsztein DC (2005), “Dynein mutations impair autophagic clearance of aggregate-prone proteins.” Nat Genet 37(7):771-6 Details Roiser JP, Cook LJ, Cooper JD, Rubinsztein DC, Sahakian BJ (2005), “Association of a functional polymorphism in the serotonin transporter gene with abnormal emotional processing in ecstasy users.” Am J Psychiatry 162(3):609-12 Details Rubinsztein DC, DiFiglia M, Heintz N, Nixon RA, Qin ZH, Ravikumar B, Stefanis L, Tolkovsky A (2005), “Autophagy and its possible roles in nervous system diseases, damage and repair.” Autophagy 1(1):11-22 Details Rubinsztein DC, Ravikumar B, Acevedo-Arozena A, Imarisio S, O'Kane CJ, Brown SD (2005), “Dyneins, autophagy, aggregation and neurodegeneration.” Autophagy 1(3):177-8 Details Sarkar S, Floto RA, Berger Z, Imarisio S, Cordenier A, Pasco M, Cook LJ, Rubinsztein DC (2005), “Lithium induces autophagy by inhibiting inositol monophosphatase.” J Cell Biol 170(7):1101-11 Details Vacher C, Garcia-Oroz L, Rubinsztein DC (2005), “Overexpression of yeast hsp104 reduces polyglutamine aggregation and prolongs survival of a transgenic mouse model of Huntington's disease.” Hum Mol Genet 14(22):3425-33 Details 2004Bao YP, Sarkar S, Uyama E, Rubinsztein DC (2004), “Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy.” J Med Genet 41(1):47-51 Details Cook LJ, Ho LW, Taylor AE, Brayne C, Evans JG, Xuereb J, Cairns NJ, Pritchard A, Lemmon H, Mann D, St Clair D, Turic D, Hollingworth P, Moore PJ, Jehu L, Archer N, Walter S, Foy C, Edmondson A, Powell J, Lovestone S, Owen MJ, Williams J, Lendon C, Rubinsztein DC (2004), “Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's disease.” Neurosci Lett 358(2):142-6 Details Ferrante RJ, Ryu H, Kubilus JK, D'Mello S, Sugars KL, Lee J, Lu P, Smith K, Browne S, Beal MF, Kristal BS, Stavrovskaya IG, Hewett S, Rubinsztein DC, Langley B, Ratan RR (2004), “Chemotherapy for the brain: the antitumor antibiotic mithramycin prolongs survival in a mouse model of Huntington's disease.” J Neurosci 24(46):10335-42 Details Ravikumar B, Rubinsztein DC (2004), “Can autophagy protect against neurodegeneration caused by aggregate-prone proteins?” Neuroreport 15(16):2443-5 Details Ravikumar B, Vacher C, Berger Z, Davies JE, Luo S, Oroz LG, Scaravilli F, Easton DF, Duden R, O'Kane CJ, Rubinsztein DC (2004), “Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease.” Nat Genet 36(6):585-95 Details Sugars KL, Brown R, Cook LJ, Swartz J, Rubinsztein DC (2004), “Decreased cAMP response element-mediated transcription: an early event in exon 1 and full-length cell models of Huntington's disease that contributes to polyglutamine pathogenesis.” J Biol Chem 279(6):4988-99 Details Webb JL, Ravikumar B, Rubinsztein DC (2004), “Microtubule disruption inhibits autophagosome-lysosome fusion: implications for studying the roles of aggresomes in polyglutamine diseases.” Int J Biochem Cell Biol 36(12):2541-50 Details 2003Hoogendijk CF, Scholtz CL, Pimstone SM, Ehrenborg E, Kastelein JJ, Defesche JC, Thiart R, du Plessis L, de Villiers JN, Zaahl MG, Delport R, Rubinsztein DC, Raffel LJ, Grim CE, Mediene-Benchekor S, Amouyel P, Brousseau T, Steyn K, Lombard CJ, Hayden MR, Kotze MJ (2003), “Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element.” Mol Cell Probes 17(4):175-81 Details Ravikumar B, Stewart A, Kita H, Kato K, Duden R, Rubinsztein DC (2003), “Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy.” Hum Mol Genet 12(9):985-94 Details Rubinsztein DC (2003), “How does the Huntington's disease mutation damage cells?” Sci Aging Knowledge Environ 2003(37):PE26 Details Rubinsztein DC (2003), “How useful are animal models of human disease?” Semin Cell Dev Biol 14(1):1-2 Details Rubinsztein DC, Carmichael J (2003), “Huntington's disease: molecular basis of neurodegeneration.” Expert Rev Mol Med 5(20):1-21 Details Squitieri F, Gellera C, Cannella M, Mariotti C, Cislaghi G, Rubinsztein DC, Almqvist EW, Turner D, Bachoud-Lévi AC, Simpson SA, Delatycki M, Maglione V, Hayden MR, Donato SD (2003), “Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course.” Brain 126(Pt 4):946-55 Details Sugars KL, Rubinsztein DC (2003), “Transcriptional abnormalities in Huntington disease.” Trends Genet 19(5):233-8 Details Webb JL, Ravikumar B, Atkins J, Skepper JN, Rubinsztein DC (2003), “Alpha-Synuclein is degraded by both autophagy and the proteasome.” J Biol Chem 278(27):25009-13 Details Yip AG, Dürr A, Marchuk DA, Ashley-Koch A, Hentati A, Rubinsztein DC, Reid E (2003), “Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.” J Med Genet 40(9):e106 Details 2002Bao YP, Cook LJ, O'Donovan D, Uyama E, Rubinsztein DC (2002), “Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy.” J Biol Chem 277(14):12263-9 Details Carmichael J, Sugars KL, Bao YP, Rubinsztein DC (2002), “Glycogen synthase kinase-3beta inhibitors prevent cellular polyglutamine toxicity caused by the Huntington's disease mutation.” J Biol Chem 277(37):33791-8 Details Carmichael J, Vacher C, Rubinsztein DC (2002), “The bacterial chaperonin GroEL requires GroES to reduce aggregation and cell death in a COS-7 cell model of Huntington's disease.” Neurosci Lett 330(3):270-4 Details Cook L, Brayne CE, Easton D, Evans JG, Xuereb J, Cairns NJ, Rubinsztein DC (2002), “No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease.” Ann Neurol 52(5):690-1 Details Kita H, Carmichael J, Swartz J, Muro S, Wyttenbach A, Matsubara K, Rubinsztein DC, Kato K (2002), “Modulation of polyglutamine-induced cell death by genes identified by expression profiling.” Hum Mol Genet 11(19):2279-87 Details Ravikumar B, Duden R, Rubinsztein DC (2002), “Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy.” Hum Mol Genet 11(9):1107-17 Details Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA (2002), “A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).” Am J Hum Genet 71(5):1189-94 Details Rubinsztein DC (2002), “Lessons from animal models of Huntington's disease.” Trends Genet 18(4):202-9 Details Wyttenbach A, Sauvageot O, Carmichael J, Diaz-Latoud C, Arrigo AP, Rubinsztein DC (2002), “Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin.” Hum Mol Genet 11(9):1137-51 Details Yip AG, Brayne C, Easton D, Rubinsztein DC (2002), “An investigation of ACE as a risk factor for dementia and cognitive decline in the general population.” J Med Genet 39(6):403-6 Details Yip AG, Brayne C, Easton D, Rubinsztein DC, Medical Research Council Cognitive Function Ageing Study (MRC CFAS) (2002), “Apolipoprotein E4 is only a weak predictor of dementia and cognitive decline in the general population.” J Med Genet 39(9):639-43 Details 2001Berrios GE, Wagle AC, Marková IS, Wagle SA, Ho LW, Rubinsztein DC, Whittaker J, Ffrench-Constant C, Kershaw A, Rosser A, Bak T, Hodges JR (2001), “Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington's disease gene carriers.” Psychiatry Res 102(3):217-25 Details Ho LW, Brown R, Maxwell M, Wyttenbach A, Rubinsztein DC (2001), “Wild type Huntingtin reduces the cellular toxicity of mutant Huntingtin in mammalian cell models of Huntington's disease.” J Med Genet 38(7):450-2 Details Ho LW, Carmichael J, Swartz J, Wyttenbach A, Rankin J, Rubinsztein DC (2001), “The molecular biology of Huntington's disease.” Psychol Med 31(1):3-14 Details McConnell RS, Rubinsztein DC, Fannin TF, McKinstry CS, Kelly B, Bailey IC, Hughes AE (2001), “Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.” J Med Genet 38(4):238-40 Details Murphy T, Yip A, Brayne C, Easton D, Evans JG, Xuereb J, Cairns N, Esiri MM, Rubinsztein DC (2001), “The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer's disease.” Neuroreport 12(3):631-4 Details Reid E, Escayg A, Dearlove AM, Meisler MH, Rubinsztein DC (2001), “The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate.” J Med Genet 38(1):65-7 Details Taylor A, Ezquerra M, Bagri G, Yip A, Goumidi L, Cottel D, Easton D, Evans JG, Xuereb J, Cairns NJ, Amouyel P, Chartier-Harlin MC, Brayne C, Rubinsztein DC (2001), “Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes.” Am J Med Genet 105(8):761-4 Details Taylor AE, Yip A, Brayne C, Easton D, Evans JG, Xuereb J, Cairns N, Esiri MM, Rubinsztein DC (2001), “Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onset Alzheimer's disease.” J Med Genet 38(4):232-3 Details Wyttenbach A, Swartz J, Kita H, Thykjaer T, Carmichael J, Bradley J, Brown R, Maxwell M, Schapira A, Orntoft TF, Kato K, Rubinsztein DC (2001), “Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington's disease.” Hum Mol Genet 10(17):1829-45 Details 2000Carmichael J, Chatellier J, Woolfson A, Milstein C, Fersht AR, Rubinsztein DC (2000), “Bacterial and yeast chaperones reduce both aggregate formation and cell death in mammalian cell models of Huntington's disease.” Proc Natl Acad Sci U S A 97(17):9701-5 Details Coles R, Birdsall M, Wyttenbach A, Rubinsztein DC (2000), “12-O-tetradecanoyl-phorbol-13-acetate down-regulates the Huntingtin promoter at Sp1 sites.” Neuroreport 11(14):3157-61 Details Furlong RA, Keramatipour M, Ho LW, Rubinsztein JS, Michael A, Walsh C, Paykel ES, Rubinsztein DC (2000), “No association of an insertion/deletion polymorphism in the angiotensin I converting enzyme gene with bipolar or unipolar affective disorders.” Am J Med Genet 96(6):733-5 Details Furlong RA, Narain Y, Rankin J, Wyttenbach A, Rubinsztein DC (2000), “Alpha-synuclein overexpression promotes aggregation of mutant huntingtin.” Biochem J 346 Pt 3:577-81 Details Ho LW, Furlong RA, Rubinsztein JS, Walsh C, Paykel ES, Rubinsztein DC (2000), “Genetic associations with clinical characteristics in bipolar affective disorder and recurrent unipolar depressive disorder.” Am J Med Genet 96(1):36-42 Details Keramatipour M, McConnell RS, Kirkpatrick P, Tebbs S, Furlong RA, Rubinsztein DC (2000), “The ACE I allele is associated with increased risk for ruptured intracranial aneurysms.” J Med Genet 37(7):498-500 Details Lindsey JC, Lusher ME, McDermott CJ, White KD, Reid E, Rubinsztein DC, Bashir R, Hazan J, Shaw PJ, Bushby KM (2000), “Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.” J Med Genet 37(10):759-65 Details Narain Y, Yip A, Murphy T, Brayne C, Easton D, Evans JG, Xuereb J, Cairns N, Esiri MM, Furlong RA, Rubinsztein DC (2000), “The ACE gene and Alzheimer's disease susceptibility.” J Med Genet 37(9):695-7 Details Rankin J, Wyttenbach A, Rubinsztein DC (2000), “Intracellular green fluorescent protein-polyalanine aggregates are associated with cell death.” Biochem J 348 Pt 1:15-9 Details Reid E, Dearlove AM, Osborn O, Rogers MT, Rubinsztein DC (2000), “A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.” Am J Hum Genet 66(2):728-32 Details Rosser ZH, Zerjal T, Hurles ME, Adojaan M, Alavantic D, Amorim A, Amos W, Armenteros M, Arroyo E, Barbujani G, Beckman G, Beckman L, Bertranpetit J, Bosch E, Bradley DG, Brede G, Cooper G, Côrte-Real HB, de Knijff P, Decorte R, Dubrova YE, Evgrafov O, Gilissen A, Glisic S, Gölge M, Hill EW, Jeziorowska A, Kalaydjieva L, Kayser M, Kivisild T, Kravchenko SA, Krumina A, Kucinskas V, Lavinha J, Livshits LA, Malaspina P, Maria S, McElreavey K, Meitinger TA, Mikelsaar AV, Mitchell RJ, Nafa K, Nicholson J, Nørby S, Pandya A, Parik J, Patsalis PC, Pereira L, Peterlin B, Pielberg G, Prata MJ, Previderé C, Roewer L, Rootsi S, Rubinsztein DC, Saillard J, Santos FR, Stefanescu G, Sykes BC, Tolun A, Villems R, Tyler-Smith C, Jobling MA (2000), “Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.” Am J Hum Genet 67(6):1526-43 Details Singleton AB, Hall R, Ballard CG, Perry RH, Xuereb JH, Rubinsztein DC, Tysoe C, Matthews P, Cordell B, Kumar-Singh S, De Jonghe C, Cruts M, van Broeckhoven C, Morris CM (2000), “Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation.” Brain 123 Pt 12:2467-74 Details Wyttenbach A, Carmichael J, Swartz J, Furlong RA, Narain Y, Rankin J, Rubinsztein DC (2000), “Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease.” Proc Natl Acad Sci U S A 97(6):2898-903 Details 1999Cooper G, Amos W, Bellamy R, Siddiqui MR, Frodsham A, Hill AV, Rubinsztein DC (1999), “An empirical exploration of the (delta mu)2 genetic distance for 213 human microsatellite markers.” Am J Hum Genet 65(4):1125-33 Details Cooper G, Burroughs NJ, Rand DA, Rubinsztein DC, Amos W (1999), “Markov chain Monte Carlo analysis of human Y-chromosome microsatellites provides evidence of biased mutation.” Proc Natl Acad Sci U S A 96(21):11916-21 Details 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 Dow DJ, Lindsey N, Cairns NJ, Brayne C, Robinson D, Huppert FA, Paykel ES, Xuereb J, Wilcock G, Whittaker JL, Rubinsztein DC (1999), “Alpha-2 macroglobulin polymorphism and Alzheimer disease risk in the UK.” Nat Genet 22(1):16-7; author reply 21-2 Details Furlong RA, Ho L, Rubinsztein JS, Walsh C, Paykel ES, Rubinsztein DC (1999), “Analysis of the monoamine oxidase A (MAOA) gene in bipolar affective disorder by association studies, meta-analyses, and sequencing of the promoter.” Am J Med Genet 88(4):398-406 Details Furlong RA, Ho LW, Rubinsztein JS, Michael A, Walsh C, Paykel ES, Rubinsztein DC (1999), “A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases.” Neurosci Lett 277(2):123-6 Details Furlong RA, Rubinsztein JS, Ho L, Walsh C, Coleman TA, Muir WJ, Paykel ES, Blackwood DH, Rubinsztein DC (1999), “Analysis and metaanalysis of two polymorphisms within the tyrosine hydroxylase gene in bipolar and unipolar affective disorders.” Am J Med Genet 88(1):88-94 Details Kirk R, Furlong RA, Amos W, Cooper G, Rubinsztein JS, Walsh C, Paykel ES, Rubinsztein DC (1999), “Mitochondrial genetic analyses suggest selection against maternal lineages in bipolar affective disorder.” Am J Hum Genet 65(2):508-18 Details Narain Y, Wyttenbach A, Rankin J, Furlong RA, Rubinsztein DC (1999), “A molecular investigation of true dominance in Huntington's disease.” J Med Genet 36(10):739-46 Details Reid E, Dearlove AM, Rhodes M, Rubinsztein DC (1999), “A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.” Am J Hum Genet 65(3):757-63 Details Reid E, Dearlove AM, Whiteford ML, Rhodes M, Rubinsztein DC (1999), “Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.” Neurology 53(8):1844-9 Details Reid E, Grayson C, Rogers MT, Rubinsztein DC (1999), “Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families.” Brain 122 ( Pt 9):1741-55 Details Reid E, Grayson C, Rubinsztein DC, Rogers MT, Rubinsztein JS (1999), “Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia.” J Med Genet 36(10):797-8 Details Rubinsztein DC, Amos B, Cooper G (1999), “Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in different lineages.” Philos Trans R Soc Lond B Biol Sci 354(1386):1095-9 Details Rubinsztein DC, Easton DF (1999), “Apolipoprotein E genetic variation and Alzheimer's disease. a meta-analysis.” Dement Geriatr Cogn Disord 10(3):199-209 Details Rubinsztein DC, Hon J, Stevens F, Pyrah I, Tysoe C, Huppert FA, Easton DF, Holland AJ (1999), “Apo E genotypes and risk of dementia in Down syndrome.” Am J Med Genet 88(4):344-7 Details Rubinsztein DC, Wyttenbach A, Rankin J (1999), “Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts?” J Med Genet 36(4):265-70 Details 1998Coles R, Caswell R, Rubinsztein DC (1998), “Functional analysis of the Huntington's disease (HD) gene promoter.” Hum Mol Genet 7(5):791-800 Details Cooper G, Rubinsztein DC, Amos W (1998), “Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues.” Hum Mol Genet 7(9):1425-9 Details Furlong RA, Coleman TA, Ho L, Rubinsztein JS, Walsh C, Paykel ES, Rubinsztein DC (1998), “No association of a functional polymorphism in the dopamine D2 receptor promoter region with bipolar or unipolar affective disorders.” Am J Med Genet 81(5):385-7 Details Furlong RA, Ho L, Rubinsztein JS, Walsh C, Paykel ES, Rubinsztein DC (1998), “No association of the tryptophan hydroxylase gene with bipolar affective disorder, unipolar affective disorder, or suicidal behaviour in major affective disorder.” Am J Med Genet 81(3):245-7 Details Furlong RA, Ho L, Walsh C, Rubinsztein JS, Jain S, Paykel ES, Easton DF, Rubinsztein DC (1998), “Analysis and meta-analysis of two serotonin transporter gene polymorphisms in bipolar and unipolar affective disorders.” Am J Med Genet 81(1):58-63 Details Lawrence AD, Hodges JR, Rosser AE, Kershaw A, ffrench-Constant C, Rubinsztein DC, Robbins TW, Sahakian BJ (1998), “Evidence for specific cognitive deficits in preclinical Huntington's disease.” Brain 121 ( Pt 7):1329-41 Details Peeters AV, Kotze MJ, Scholtz CL, De Waal LF, Rubinsztein DC, Coetzee GA, Zuliani G, Streiff R, Liu J, van der Westhuyzen DR (1998), “A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi.” J Lipid Res 39(5):1021-4 Details Rosenblatt A, Ranen NG, Rubinsztein DC, Stine OC, Margolis RL, Wagster MV, Becher MW, Rosser AE, Leggo J, Hodges JR, ffrench-Constant CK, Sherr M, Franz ML, Abbott MH, Ross CA (1998), “Patients with features similar to Huntington's disease, without CAG expansion in huntingtin.” Neurology 51(1):215-20 Details Rubinsztein JS, Rubinsztein DC, Goodburn S, Holland AJ (1998), “Apathy and hypersomnia are common features of myotonic dystrophy.” J Neurol Neurosurg Psychiatry 64(4):510-5 Details Tysoe C, Galinsky D, Robinson D, Brayne C, Huppert FA, Dening T, Paykel ES, Easton DF, Rubinsztein DC (1998), “Apo E and Apo CI loci are associated with dementia in younger but not older late-onset cases.” Dement Geriatr Cogn Disord 9(4):191-8 Details Tysoe C, Whittaker J, Xuereb J, Cairns NJ, Cruts M, Van Broeckhoven C, Wilcock G, Rubinsztein DC (1998), “A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.” Am J Hum Genet 62(1):70-6 Details 1997Becher MW, Rubinsztein DC, Leggo J, Wagster MV, Stine OC, Ranen NG, Franz ML, Abbott MH, Sherr M, MacMillan JC, Barron L, Porteous M, Harper PS, Ross CA (1997), “Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees.” Mov Disord 12(4):519-30 Details Coles R, Leggo J, Rubinsztein DC (1997), “Analysis of the 5' upstream sequence of the Huntington's disease (HD) gene shows six new rare alleles which are unrelated to the age at onset of HD.” J Med Genet 34(5):371-4 Details Dow DJ, Rubinsztein DC, Yates JR, Barton DE, Ferguson-Smith MA (1997), “Instability of normal (CTG)n alleles in the DM kinase gene.” J Med Genet 34(10):871-3 Details Galinsky D, Tysoe C, Brayne CE, Easton DF, Huppert FA, Dening TR, Paykel ES, Rubinsztein DC (1997), “Analysis of the apo E/apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity.” Atherosclerosis 129(2):177-83 Details Leggo J, Dalton A, Morrison PJ, Dodge A, Connarty M, Kotze MJ, Rubinsztein DC (1997), “Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.” J Med Genet 34(12):982-5 Details Raal FJ, Pilcher G, Rubinsztein DC, Lingenhel A, Utermann G (1997), “Statin therapy in a kindred with both apolipoprotein B and low density lipoprotein receptor gene defects.” Atherosclerosis 129(1):97-102 Details Rubinsztein DC (1997), “The genetics of Alzheimer's disease.” Prog Neurobiol 52(6):447-54 Details Rubinsztein DC, Leggo J (1997), “Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.” J Med Genet 34(3):234-6 Details Rubinsztein DC, Leggo J, Chiano M, Dodge A, Norbury G, Rosser E, Craufurd D (1997), “Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.” Proc Natl Acad Sci U S A 94(8):3872-6 Details Rubinsztein DC, Leggo J, Chiano M, Korn S, Dodge A, Norbury G, Rosser E, Craufurd D (1997), “Homozygotes and heterozygotes for ciliary neurotrophic factor null alleles do not show earlier onset of Huntington's disease.” Neurology 49(3):890-2 Details Rubinsztein JS, Rubinsztein DC, McKenna PJ, Goodburn S, Holland AJ (1997), “Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.” J Med Genet 34(3):229-33 Details Tysoe C, Galinsky D, Robinson D, Brayne CE, Easton DF, Huppert FA, Dening T, Paykel ES, Rubinsztein DC (1997), “Analysis of alpha-1 antichymotrypsin, presenilin-1, angiotensin-converting enzyme, and methylenetetrahydrofolate reductase loci as candidates for dementia.” Am J Med Genet 74(2):207-12 Details Tysoe C, Whittaker J, Cairns NJ, Atkinson PF, Harrington CR, Xuereb J, Wilcock G, Rubinsztein DC (1997), “Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.” Neurosci Lett 222(1):68-9 Details Wise CA, Sraml M, Rubinsztein DC, Easteal S (1997), “Comparative nuclear and mitochondrial genome diversity in humans and chimpanzees.” Mol Biol Evol 14(7):707-16 Details 1996Amos W, Sawcer SJ, Feakes RW, Rubinsztein DC (1996), “Microsatellites show mutational bias and heterozygote instability.” Nat Genet 13(4):390-1 Details Cooper G, Amos W, Hoffman D, Rubinsztein DC (1996), “Network analysis of human Y microsatellite haplotypes.” Hum Mol Genet 5(11):1759-66 Details Jain S, Leggo J, DeLisi LE, Crow TJ, Margolis RL, Li SH, Goodburn S, Walsh C, Paykel ES, Ferguson-Smith MA, Ross CA, Rubinsztein DC (1996), “Analysis of thirteen trinucleotide repeat loci as candidate genes for schizophrenia and bipolar affective disorder.” Am J Med Genet 67(2):139-46 Details Langenhoven E, Warnich L, Thiart R, Rubinsztein DC, van der Westhuyzen DR, Marais AD, Kotze MJ (1996), “Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.” Atherosclerosis 125(1):111-9 Details Margolis RL, Stine OC, McInnis MG, Ranen NG, Rubinsztein DC, Leggo J, Brando LV, Kidwai AS, Loev SJ, Breschel TS, Callahan C, Simpson SG, DePaulo JR, McMahon FJ, Jain S, Paykel ES, Walsh C, DeLisi LE, Crow TJ, Torrey EF, Ashworth RG, Macke JP, Nathans J, Ross CA (1996), “cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat.” Hum Mol Genet 5(5):607-16 Details Rubinsztein DC, Leggo J, Coles R, Almqvist E, Biancalana V, Cassiman JJ, Chotai K, Connarty M, Crauford D, Curtis A, Curtis D, Davidson MJ, Differ AM, Dode C, Dodge A, Frontali M, Ranen NG, Stine OC, Sherr M, Abbott MH, Franz ML, Graham CA, Harper PS, Hedreen JC, Hayden MR (1996), “Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.” Am J Hum Genet 59(1):16-22 Details Rubinsztein DC, Leggo J, Crow TJ, DeLisi LE, Walsh C, Jain S, Paykel ES (1996), “Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder.” Am J Med Genet 67(5):495-8 Details Rubinsztein DC, Leggo J, Goodburn S, Walsh C, Jain S, Paykel ES (1996), “Genetic association between monoamine oxidase A microsatellite and RFLP alleles and bipolar affective disorder: analysis and meta-analysis.” Hum Mol Genet 5(6):779-82 Details Tysoe C, Robinson D, Brayne C, Dening T, Paykel ES, Huppert FA, Rubinsztein DC (1996), “The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years.” J Med Genet 33(12):1002-6 Details 1995Andrews K, Wienberg J, Ferguson-Smith MA, Rubinsztein DC (1995), “Enrichment of fetal nucleated cells from maternal blood: model test system using cord blood.” Prenat Diagn 15(10):913-9 Details Hanlon CS, Rubinsztein DC (1995), “Arginine residues at codons 112 and 158 in the apolipoprotein E gene correspond to the ancestral state in humans.” Atherosclerosis 112(1):85-90 Details Rubinsztein DC (1995), “Apolipoprotein E: a review of its roles in lipoprotein metabolism, neuronal growth and repair and as a risk factor for Alzheimer's disease.” Psychol Med 25(2):223-9 Details Rubinsztein DC, Amos W, Leggo J, Goodburn S, Jain S, Li SH, Margolis RL, Ross CA, Ferguson-Smith MA (1995), “Microsatellite evolution--evidence for directionality and variation in rate between species.” Nat Genet 10(3):337-43 Details Rubinsztein DC, Coetzee GA, van der Westhuyzen DR, Langenhoven E, Kotze MJ (1995), “Familial defective apolipoprotein-B is rare in hypercholesterolaemic South African Afrikaners, coloureds and Indians.” S Afr Med J 85(5):355-7 Details Rubinsztein DC, Leggo J, Amos W (1995), “Microsatellites evolve more rapidly in humans than in chimpanzees.” Genomics 30(3):610-12 Details Rubinsztein DC, Leggo J, Coetzee GA, Irvine RA, Buckley M, Ferguson-Smith MA (1995), “Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes.” Hum Mol Genet 4(9):1585-90 Details Rubinsztein DC, Leggo J, Goodburn S, Barton DE, Ferguson-Smith MA (1995), “Normal CAG and CCG repeats in the Huntington's disease genes of Parkinson's disease patients.” Am J Med Genet 60(2):109-10 Details Rubinsztein DC, Leggo J, Goodburn S, Barton DE, Ferguson-Smith MA (1995), “Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype.” Hum Mol Genet 4(2):203-6 Details 1994Attwood J, Vergnaud G, Lush ML, Rubinsztein DC, Goudie D, Ferguson-Smith M, Povey S (1994), “The EUROGEM map of human chromosome 9.” Eur J Hum Genet 2(3):220-1 Details Kapsetaki M, Kokkinaki M, Angelicheva D, Lubyova B, Mavraki H, Argyrokastritis A, Vergnaud G, Ferguson-Smith M, Rubinsztein DC, Lush M (1994), “The EUROGEM map of human chromosome 10.” Eur J Hum Genet 2(3):222-3 Details Rubinsztein DC, Amos W, Leggo J, Goodburn S, Ramesar RS, Old J, Bontrop R, McMahon R, Barton DE, Ferguson-Smith MA (1994), “Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.” Nat Genet 7(4):525-30 Details Rubinsztein DC, Barton DE, Ferguson-Smith MA (1994), “Issues in Huntington's disease testing.” Q J Med 87(2):71-3 Details Rubinsztein DC, Hanlon CS, Irving RM, Goodburn S, Evans DG, Kellar-Wood H, Xuereb JH, Bandmann O, Harding AE (1994), “Apo E genotypes in multiple sclerosis, Parkinson's disease, schwannomas and late-onset Alzheimer's disease.” Mol Cell Probes 8(6):519-25 Details Rubinsztein DC, Leggo J, Amos W, Barton DE, Ferguson-Smith MA (1994), “Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations.” Hum Mol Genet 3(11):2031-5 Details Rubinsztein DC, Leggo J, Goodburn S, Barton DE, Ferguson-Smith MA, Ross CA, Li SH, Lofthouse R, Crow TJ, DeLisi LE (1994), “B37 repeats are normal in most schizophrenic patients.” Br J Psychiatry 164(6):851-2 Details Rubinsztein DC, Leggo J, Goodburn S, Crow TJ, Lofthouse R, DeLisi LE, Barton DE, Ferguson-Smith MA (1994), “Study of the Huntington's disease (HD) gene CAG repeats in schizophrenic patients shows overlap of the normal and HD affected ranges but absence of correlation with schizophrenia.” J Med Genet 31(9):690-3 Details Rubinsztein DC, van der Westhuyzen DR, Coetzee GA (1994), “Monogenic primary hypercholesterolaemia in South Africa.” S Afr Med J 84(6):339-44 Details 1993Rubinsztein DC, Barton DE, Davison BC, Ferguson-Smith MA (1993), “Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number.” Hum Mol Genet 2(10):1713-5 Details Rubinsztein DC, Jialal I, Leitersdorf E, Coetzee GA, van der Westhuyzen DR (1993), “Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.” Biochim Biophys Acta 1182(1):75-82 Details Rubinsztein DC, Leggo J, Barton DE, Ferguson-Smith MA (1993), “Site of (CCG) polymorphism in the HD gene.” Nat Genet 5(3):214-5 Details Rubinsztein DC, Raal FJ, Seftel HC, Pilcher G, Coetzee GA, van der Westhuyzen DR (1993), “Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.” Arterioscler Thromb 13(7):1076-81 Details 1992Rubinsztein DC, Coetzee GA, Marais AD, Leitersdorf E, Seftel HC, van der Westhuyzen DR (1992), “Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.” J Lipid Res 33(11):1647-55 Details 1990Rubinsztein DC, Cohen JC, Berger GM, van der Westhuyzen DR, Coetzee GA, Gevers W (1990), “Chylomicron remnant clearance from the plasma is normal in familial hypercholesterolemic homozygotes with defined receptor defects.” J Clin Invest 86(4):1306-12 Details |