FIND

researchers

DISCOVER

relevant articles

PROMOTE

your research

now for free

David Rubinsztein

Research Profile

Physiology

Disorders

Chemicals & Drugs

Living Beings

Anatomy

Genes & Molecular Sequences

Alleles

Concepts & Ideas

Co-author Network

Publications

TOP 3
Warren E Hochfeld; Shirley Lee; David C Rubinsztein
Therapeutic induction of autophagy to modulate neurodegenerative disease progression.
Carla F Bento; Kevin Moreau; Claudia Puri; David C Rubinsztein
The role of membrane-trafficking small GTPases in the regulation of autophagy.
Kevin Moreau; Maurizio Renna; David C Rubinsztein
Connections between SNAREs and autophagy.

Register for free to view:

Visualized networks:

See your personal network in
sophisticated graphical views

GeoTargeted Searches:

Locate experts around the world
and connect with global collaborators

Research Profiles:

See the research activity
of experts around the globe

Geonetwork of David Rubinsztein (preview)

Cities where this author has publications
Cities where co-authors of this author have publications

Flash Player Required

All Publications

2013: Warren E Hochfeld; Shirley Lee; David C Rubinsztein
Therapeutic induction of autophagy to modulate neurodegenerative disease progression.
Acta pharmacologica Sinica 2013;34(5):600-4.
2013: Carla F Bento; Kevin Moreau; Claudia Puri; David C Rubinsztein
The role of membrane-trafficking small GTPases in the regulation of autophagy.
Journal of cell science 2013;126(Pt 5):1059-69.
2013: Kevin Moreau; Maurizio Renna; David C Rubinsztein
Connections between SNAREs and autophagy.
Trends in biochemical sciences 2013;38(2):57-63.
2013: Shouqing Luo; David C Rubinsztein
BCL2L11/BIM: a novel molecular link between autophagy and apoptosis.
Autophagy 2013;9(1):104-5.
2012: Daniel J Metcalf; Moisés García-Arencibia; Warren E Hochfeld; David C Rubinsztein
Autophagy and misfolded proteins in neurodegeneration.
Experimental neurology 2012;238(1):22-8.
2012: David C Rubinsztein; Patrice Codogno; Beth Levine
Autophagy modulation as a potential therapeutic target for diverse diseases.
Nature reviews. Drug discovery 2012;11(9):709-30.
2012: Shouqing Luo; Claudia Puri; Oana Sadiq; Pearl P C Toh; Rui Zhao; Moises Garcia-Arencibia; David C Rubinsztein
Bim inhibits autophagy by recruiting Beclin 1 to microtubules.
Molecular cell 2012;47(3):359-70.
2012: Petroula Proitsi; David C Rubinsztein; Hilkka Soininen; Stephen Todd; Magda Tsolaki; Bruno Velas; Julie Williams; Janet Johnson; Megan Pritchard; Carol Brayne; David Craig; Makrina Daniilidou; Frank Dudbridge; Michael Gill; Gillian Hamilton; Denise Harold; Paul Hollingworth; Iwona Kloszewska; Brian Lawlor; Kathryn Lord; Simon Lovestone; Michelle K Lupton; Belinda M Martin; Bernadette McGuinness; Patrizia Mecocci; Peter Passmore; John F Powell
Alzheimer's disease and age-related macular degeneration have different genetic models for complement gene variation.
Neurobiology of aging 2012;33(8):1843.e9-17.
2012: Kevin Moreau; David C Rubinsztein
The plasma membrane as a control center for autophagy.
Autophagy 2012;8(5):861-3.
2012: Maria Jimenez-Sanchez; Frances Thomson; Eszter Zavodszky; David C Rubinsztein
Autophagy and polyglutamine diseases.
Progress in neurobiology 2012;97(2):67-82.
2012: Mathias Jenal; Uwe Kühn; Fabricio Loayza-Puch; Fiona M Menzies; Koos Rooijers; David C Rubinsztein; Gijs van Haaften; Joachim A F Oude Vrielink; Arnold J Bos; Jarno Drost; Ran Elkon; Reuven Agami
The poly(A)-binding protein nuclear 1 suppresses alternative cleavage and polyadenylation sites.
Cell 2012;149(3):538-53.
2012: Petroula Proitsi; Suzanne J Reeves; David C Rubinsztein; Julie Williams; Nicola Archer; Carol Brayne; Michael Gill; Gillian Hamilton; Paul Hollingworth; Conrad Iyegbe; Brian Lawlor; Simon Lovestone; Michelle K Lupton; Belinda M Martin; Michael J Owen; John F Powell
Association of serotonin and dopamine gene pathways with behavioral subphenotypes in dementia.
Neurobiology of aging 2012;33(4):791-803.
2012: Fiona M Menzies; Kevin Moreau; Claudia Puri; Maurizio Renna; David C Rubinsztein
Measurement of autophagic activity in mammalian cells.
Current protocols in cell biology / editorial board, Juan S. Bonifacino ... [et al.] 2012;Chapter 15():Unit 15.16.
2012: Silvia Corrochano; Jose J Lucas; Maurizio Renna; David C Rubinsztein; Cristina Tomas-Zapico; Steve D M Brown; Abraham Acevedo-Arozena
α-Synuclein levels affect autophagosome numbers in vivo and modulate Huntington disease pathology.
Autophagy 2012;8(3):431-2.
2012: David C Rubinsztein
Autophagy--alias self-eating--appetite and ageing.
EMBO reports 2012;13(3):173-4.
2012: Kevin Moreau; Claudia Puri; Brinda Ravikumar; David C Rubinsztein
Arf6 promotes autophagosome formation via effects on phosphatidylinositol 4,5-bisphosphate and phospholipase D.
The Journal of cell biology 2012;196(4):483-96.
2012: Harry Harris; David C Rubinsztein
Control of autophagy as a therapy for neurodegenerative disease.
Nature reviews. Neurology 2012;8(2):108-17.
2012: Silvia Corrochano; Rose Kent; Maurizio Renna; David C Rubinsztein; Michelle Stewart; Steve D M Brown; Sarah Carter; Nichola Chrobot; Jason Cooper; Abraham Acevedo-Arozena
α-Synuclein levels modulate Huntington's disease in mice.
Human molecular genetics 2012;21(3):485-94.
2012: David C Rubinsztein; Tomer Shpilka; Zvulun Elazar
Mechanisms of autophagosome biogenesis.
Current biology : CB 2012;22(1):R29-34.
2012: Maria Jimenez-Sanchez; Fiona M Menzies; Thomas P Neufeld; Yu-Yun Chang; Nikol Simecek; David C Rubinsztein
The Hedgehog signalling pathway regulates autophagy.
Nature communications 2012;3():1200.
2012: Amy Gerrish; Michael Gill; Alison M Goate; Rita Guerreiro; Hugh Gurling; Rhian Gwilliam; Harald Hampel; Marian Hamshere; John Hardy; Denise Harold; Sarah E Harris; Reinhard Heun; Isabella Heuser; Paul Hollingworth; Peter A Holmans; Clive Holmes; Michael Hüll; Dobril Ivanov; Frank Jessen; Karl-Heinz Jöckel; Janet A Johnston; Lesley Jones; Nicola Jones; John S K Kauwe; Patrick G Kehoe; Norman Klopp; Heike Kölsch; Johannes Kornhuber; Brian Lawlor; Gill Livingston; Seth Love; Simon Lovestone; Michelle K Lupton; Aoibhinn Lynch; Wolfgang Maier; David Mann; Kevin Mayo; Bernadette McGuinness; Andrew McQuillin; Simon Mead; Susanne Moebus; Angharad R Morgan; Kevin Morgan; John C Morris; Valentina Moskvina; Thomas W Mühleisen; Markus M Nöthen; Petra Nowotny; Michael C O'Donovan; Michael J Owen; Jaspreet Singh Pahwa; V Shane Pankratz; Peter A Passmore; John Powell; Petroula Proitsi; Alexander Richards; Martin Rossor; David C Rubinsztein; Dan Rujescu; Giancarlo Russo; Britta Schürmann; Christopher E Shaw; Rebecca Sims; Andrew B Singleton; A David Smith; John M Starr; Alexandra Stretton; Charlene Thomas; Stephen Todd; Magda Tsolaki; H-Erich Wichmann; Amy Williams; Richard Abraham; Ammar Al-Chalabi; Nicholas J Bass; Carol Brayne; Kristelle S Brown; Minerva M Carrasquillo; Jade Chapman; John Collinge; David Craig; Carlos Cruchaga; Gail Davies; Ian J Deary; Panagiotis Deloukas; Martin Dichgans; Kimberley Dowzell; Nick Fox; Lutz Frölich; Jens Wiltfang; Steven G Younkin; Hendrik van den Bussche; Julie Williams
The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.
Journal of Alzheimer's disease : JAD 2012;28(2):377-87.
2012: L Galluzzi; E S Alnemri; J Yuan; H-U Simon; X Lu; M Piacentini; P Mehlen; R A Knight; I Vitale; Valina Dawson; E H Baehrecke; B Zhivotovsky; J M Abrams; Y Shi; M E Peter; E White; G Melino; S Fulda; S Kumar; M O Hengartner; Ted M Dawson; David C Rubinsztein; G Nuñez; P Vandenabeele; F Madeo; S A Lipton; W Malorni; O Kepp; E Gottlieb; W S El-Deiry; D R Green; M V Blagosklonny; G Kroemer
Molecular definitions of cell death subroutines: recommendations of the Nomenclature Committee on Cell Death 2012.
Cell death and differentiation 2012;19(1):107-20.
2011: Rebecca Sims; A David Smith; Alexandra Stretton; Charlene Thomas; Stephen Todd; Richard Abraham; Nicholas J Bass; Carol Brayne; Kristelle S Brown; Jade Chapman; John Collinge; David Craig; Kimberley Dowzell; Sarah Dwyer; Nick C Fox; Amy Gerrish; Michael Gill; Hugh Gurling; John Hardy; Denise Harold; Paul Hollingworth; Peter A Holmans; Clive Holmes; Dobril Ivanov; Janet A Johnston; Lesley Jones; Nicola Jones; Patrick G Kehoe; Brian Lawlor; Gill Livingston; Seth Love; Simon Lovestone; Michelle K Lupton; Aoibhinn Lynch; David Mann; Bernadette McGuiness; Andrew McQuillin; Simon Mead; Kevin Morgan; Valentina Moskvina; Michael O'Donovan; Michael J Owen; Jaspreet Singh Pahwa; Peter A Passmore; John Powell; Petroula Proitsi; Martin N Rossor; David C Rubinsztein; Julie Williams
No evidence that extended tracts of homozygosity are associated with Alzheimer's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2011;156B(7):764-71.
2011: Daniel J Klionsky; Guido Kroemer; Beth Levine; Thomas J Melia; Noboru Mizushima; David C Rubinsztein; Anne Simonsen; Andrew Thorburn; Michael Thumm; Eric H Baehrecke; John H Brumell; Charleen T Chu; Patrice Codogno; Ana Maria Cuervo; Jayanta Debnath; Vojo Deretic; Zvulun Elazar; Eeva-Liisa Eskelinen; Steven Finkbeiner; Juan Fueyo-Margareto; David Gewirtz; Marja Jäättelä; Sharon A Tooze
A comprehensive glossary of autophagy-related molecules and processes (2nd edition).
Autophagy 2011;7(11):1273-94.
2011: David C Rubinsztein; Guillermo Mariño; Guido Kroemer
Autophagy and aging.
Cell 2011;146(5):682-95.
2011: Maurizio Renna; David C Rubinsztein; Catherine Schaffner; Shaobin Shang; Marcela Henao Tamayo; Randall J Basaraba; Anne R Bowden; Karen Brown; Jason Cooper; Sarah Coulter; David Cusens; Mary Ann DeGroote; Neil J Grimsey; Charles S Haworth; Krisztina Hegyi; Jennifer Helm; Andrew Jones; Beate Kampmann; Sandra M Newton; Diane J Ordway; R Andres Floto
Azithromycin blocks autophagy and may predispose cystic fibrosis patients to mycobacterial infection.
The Journal of clinical investigation 2011;121(9):3554-63.
2011: Viktor I Korolchuk; David C Rubinsztein
Regulation of autophagy by lysosomal positioning.
Autophagy 2011;7(8):927-8.
2011: Kevin Moreau; Claudia Puri; Brinda Ravikumar; Maurizio Renna; David C Rubinsztein
Autophagosome precursor maturation requires homotypic fusion.
Cell 2011;146(2):303-17.
2011: Sovan Sarkar; Benjamin R Underwood; Andrea Williams; Angeleen Fleming; Moises Garcia-Arencibia; Sara Imarisio; Viktor I Korolchuk; Guido Kroemer; Shouqing Luo; Cahir J O'Kane; Maurizio Renna; Claudia Rose; David C Rubinsztein
Complex inhibitory effects of nitric oxide on autophagy.
Molecular cell 2011;43(1):19-32.
2011: Carmine Settembre; Francesco Vetrini; Pasqualina Colella; Chiara Di Malta; Serkan Erdin; Serpil Uckac Erdin; Moises Garcia Arencibia; Tuong Huynh; Diego Medina; Vinicia Assunta Polito; David C Rubinsztein; Marco Sardiello; Andrea Ballabio
TFEB links autophagy to lysosomal biogenesis.
Science (New York, N.Y.) 2011;332(6036):1429-33.
2011: Paul Hollingworth; Peter A Holmans; Clive Holmes; Nigel M Hooper; Michael Hüll; M Arfan Ikram; Dobril Ivanov; Frank Jessen; Karl-Heinz Jöckel; Lesley Jones; Nicola Jones; Palmi V Jonsson; Thorlakur Jonsson; John S K Kauwe; Patrick G Kehoe; Norman Klopp; Heike Kölsch; Johannes Kornhuber; Michael Krawczak; Jean-Charles Lambert; Mark Lathrop; Lenore J Launer; Brian Lawlor; Federico Licastro; Gill Livingston; Oscar L Lopez; Seth Love; Simon Lovestone; Michelle K Lupton; Aoibhinn Lynch; Wolfgang Maier; Michelangelo Mancuso; David Mann; Ignacio Mateo; Manuel Mayhaus; Kevin Mayo; Bernadette McGuinness; Andrew McQuillin; Simon Mead; Susanne Moebus; Kevin Morgan; John C Morris; Valentina Moskvina; Thomas W Mühleisen; Benedetta Nacmias; S Nicolhaus; Markus M Nöthen; Petra Nowotny; Michael O'Donovan; Michael J Owen; Jaspreet Singh Pahwa; V Shane Pankratz; Francesco Panza; Florence Pasquier; Peter A Passmore; Ronald C. Petersen; Paola Piccardi; Alberto Pilotto; Elisa Porcellini; John Powell; Petroula Proitsi; Alex Richards; Caterina Riehle; Matthias Riemenschneider; Martin N Rossor; David C Rubinsztein; Dan Rujescu; Eckart Rüther; Sigrid B Sando; Elio Scarpini; Stefan Schreiber; Britta Schürmann; Davide Seripa; Sudha Seshadri; Christopher E Shaw; Gabriele Siciliano; Rebecca Sims; Andrew B Singleton; Kristel Sleegers; A David Smith; Jon Snaedal; Hilkka Soininen; Vincenzo Solfrizzi; Sandro Sorbi; Hreinn Stefansson; Kari Stefansson; Stacy Steinberg; Alexandra Stretton; Charlene Thomas; Stephen Todd; Magda Tsolaki; Christophe Tzourio; Christine Van Broeckhoven; Hendrik van den Bussche; Cornelia M van Duijn; Emma R L C Vardy; Stefan Wagenpfeil; Donald Warden; H-Erich Wichmann; Caroline Widdowson; Gordon Wilcock; Jan O Aasly; Richard Abraham; Ammar Al-Chalabi; Annick Alpérovitch; Victoria Alvarez; Philippe Amouyel; Giorgio Annoni; Beatrice Arosio; Maria Barcikowska; Nicholas J Bass; Helen Beaumont; Claudine Berr; Karolien Bettens; Sigurbjörn Björnsson; Paolo Bosco; Paola Bossù; Carol Brayne; Monique Breteler; Alexis Brice; Kristelle S Brown; Maria J Bullido; Dominique Campion; Minerva M Carrasquillo; Jade Chapman; Vincent Chouraki; John Collinge; Onofre Combarros; Eliecer Coto; David Craig; Carlos Cruchaga; Jean-François Dartigues; Peter P De Deyn; Marc Delepine; Panagiotis Deloukas; Anita L DeStefano; Martin Dichgans; dennis dickson; Kimberley Dowzell; Sebastiaan Engelborghs; Jacques Epelbaum; Thomas M Feulner; Annette L Fitzpatrick; Nick C Fox; Ana Frank-Garcia; Patricia Friedrich; Lutz Frölich; Daniela Galimberti; John Gallacher; Benjamin Genier-Boley; Amy Gerrish; Ina Giegling; Michael Gill; Alison Goate; Neill R Graff-Radford; Rita Guerreiro; Hugh Gurling; Rhian Gwilliam; Harald Hampel; Marian L Hamshere; Didier Hannequin; Olivier Hanon; John Hardy; Denise Harold; Reiner Heun; Isabella Heuser; Mikko Hiltunen; Jens Wiltfang; Zbigniew K Wszolek; Steven G Younkin; Diana Zelenika; Julie Williams
Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease.
Nature genetics 2011;43(5):429-35.
2011: Viktor I Korolchuk; Shinji Saiki; Maike Lichtenberg; Farah H Siddiqi; Esteban A Roberts; Sara Imarisio; Luca Jahreiss; Sovan Sarkar; Marie Futter; Fiona M Menzies; Cahir J O'Kane; Vojo Deretic; David C Rubinsztein
Lysosomal positioning coordinates cellular nutrient responses.
Nature cell biology 2011;13(4):453-60.
2011: Angeleen Fleming; David C Rubinsztein
Zebrafish as a model to understand autophagy and its role in neurological disease.
Biochimica et biophysica acta 2011;1812(4):520-6.
2011: Ashley R Winslow; David C Rubinsztein
The Parkinson disease protein α-synuclein inhibits autophagy.
Autophagy 2011;7(4):429-31.
2011: Fiona M Menzies; Kevin Moreau; David C Rubinsztein
Protein misfolding disorders and macroautophagy.
Current opinion in cell biology 2011;23(2):190-7.
2011: Janet E Davies; David C Rubinsztein
Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy.
Human molecular genetics 2011;20(6):1154-63.
2011: P Proitsi; G Hamilton; M Tsolaki; M Lupton; M Daniilidou; Paul Hollingworth; N Archer; C Foy; F Stylios; B McGuinness; S Todd; B Lawlor; M Gill; Carol Brayne; David C Rubinsztein; Michael J Owen; J Williams; David Craig; P Passmore; Simon Lovestone; John F Powell
A Multiple Indicators Multiple Causes (MIMIC) model of Behavioural and Psychological Symptoms in Dementia (BPSD).
Neurobiology of aging 2011;32(3):434-42.
2011: Maurizio Renna; Catherine Schaffner; Ashley R Winslow; Fiona M Menzies; Andrew A Peden; R Andres Floto; David C Rubinsztein
Autophagic substrate clearance requires activity of the syntaxin-5 SNARE complex.
Journal of cell science 2011;124(Pt 3):469-82.
2011: M Lichtenberg; A Mansilla; A Fleming; V R Zecchini; David C Rubinsztein
The Parkinson's disease protein LRRK2 impairs proteasome substrate clearance without affecting proteasome catalytic activity.
Cell death & disease 2011;2():e196.
2011: Angeleen Fleming; takeshi noda; Tamotsu Yoshimori; David C Rubinsztein
Chemical modulators of autophagy as biological probes and potential therapeutics.
Nature chemical biology 2011;7(1):9-17.
2010: David C Rubinsztein; Ralph A Nixon
Rapamycin induces autophagic flux in neurons.
Proceedings of the National Academy of Sciences of the United States of America 2010;107(49):E181; author reply E182.
2010: Fiona M Menzies; Raphael Hourez; Sara Imarisio; Marcel Raspe; Oana Sadiq; Dhia Chandraratna; Cahir J O'Kane; Kenneth L Rock; Eric Reits; Alfred L Goldberg; David C Rubinsztein
Puromycin-sensitive aminopeptidase protects against aggregation-prone proteins via autophagy.
Human molecular genetics 2010;19(23):4573-86.
2010: Brinda Ravikumar; Kevin Moreau; David C Rubinsztein
Plasma membrane helps autophagosomes grow.
Autophagy 2010;6(8):1184-6.
2010: Brinda Ravikumar; Sovan Sarkar; Janet E Davies; Marie Futter; Moises Garcia-Arencibia; Zeyn W Green-Thompson; Maria Jimenez-Sanchez; Viktor I Korolchuk; Maike Lichtenberg; Shouqing Luo; Dunecan C O Massey; Fiona M Menzies; Kevin Moreau; Usha Narayanan; Maurizio Renna; Farah H Siddiqi; Benjamin R Underwood; Ashley R Winslow; David C Rubinsztein
Regulation of mammalian autophagy in physiology and pathophysiology.
Physiological reviews 2010;90(4):1383-435.
2010: Erwin Knecht; Carmen Aguado; Sovan Sarkar; Viktor I Korolchuk; Olga Criado-García; Santiago Vernia; Patricia Boya; Pascual Sanz; Santiago Rodríguez de Córdoba; David C Rubinsztein
Impaired autophagy in Lafora disease.
Autophagy 2010;6(7):991-3.
2010: Ashley R Winslow; Chien-Wen Chen; Silvia Corrochano; Abraham Acevedo-Arozena; David E Gordon; Andrew A Peden; Maike Lichtenberg; Fiona M Menzies; Brinda Ravikumar; Sara Imarisio; Steve Brown; Cahir J O'Kane; David C Rubinsztein
α-Synuclein impairs macroautophagy: implications for Parkinson's disease.
The Journal of cell biology 2010;190(6):1023-37.
2010: Benjamin R Underwood; Sara Imarisio; Angeleen Fleming; Claudia Rose; Gauri Krishna; Phoebe Heard; Marie Quick; Viktor I Korolchuk; Maurizio Renna; Sovan Sarkar; Moisés García-Arencibia; Cahir J O'Kane; Michael P Murphy; David C Rubinsztein
Antioxidants can inhibit basal autophagy and enhance neurodegeneration in models of polyglutamine disease.
Human molecular genetics 2010;19(17):3413-29.
2010: Moisés García-Arencibia; Warren E Hochfeld; Pearl P C Toh; David C Rubinsztein
Autophagy, a guardian against neurodegeneration.
Seminars in cell & developmental biology 2010;21(7):691-8.
2010: Christie Cluett; Carol Brayne; Robert Clarke; Grimley Evans; Fiona Matthews; David C Rubinsztein; Felicia Huppert; David Llewellyn; Neil Rice; William Henley; Timothy M Frayling; Anna Murray; David Melzer
Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people.
Neurobiology of aging 2010;31(9):1563-8.
2010: Tjakko J van Ham; Mats A Holmberg; Annemieke T van der Goot; Eva Teuling; Moises Garcia-Arencibia; Hyun-Eui Kim; Deguo Du; Karen L Thijssen; Marit Wiersma; Rogier Burggraaff; Petra van Bergeijk; Jeroen van Rheenen; G Jerre van Veluw; Robert M W Hofstra; David C Rubinsztein; Ellen A A Nollen
Identification of MOAG-4/SERF as a regulator of age-related proteotoxicity.
Cell 2010;142(4):601-12.
2010: Brinda Ravikumar; Kevin Moreau; Luca Jahreiss; Claudia Puri; David C Rubinsztein
Plasma membrane contributes to the formation of pre-autophagosomal structures.
Nature cell biology 2010;12(8):747-57.
2010: Carmen Aguado; Sovan Sarkar; Viktor I Korolchuk; Olga Criado; Santiago Vernia; Patricia Boya; Pascual Sanz; Santiago Rodríguez de Córdoba; Erwin Knecht; David C Rubinsztein
Laforin, the most common protein mutated in Lafora disease, regulates autophagy.
Human molecular genetics 2010;19(14):2867-76.
2010: Janet E Davies; Claudia Rose; Sovan Sarkar; David C Rubinsztein
Cystamine suppresses polyalanine toxicity in a mouse model of oculopharyngeal muscular dystrophy.
Science translational medicine 2010;2(34):34ra40.
2010: capucine Trollet; Seyed Yahya Anvar; Andrea Venema; Iain P Hargreaves; Keith Foster; Alban Vignaud; Arnaud Ferry; Elisa Negroni; Christophe Hourde; Martín Baraibar; Peter A C 't Hoen; Janet E Davies; David C Rubinsztein; Simon J Heales; Vincent Mouly; Silvère M van der Maarel; Gillian Butler-Browne; Vered Raz; George Dickson
Molecular and phenotypic characterization of a mouse model of oculopharyngeal muscular dystrophy reveals severe muscular atrophy restricted to fast glycolytic fibres.
Human molecular genetics 2010;19(11):2191-207.
2010: Claudia Rose; Fiona M Menzies; Maurizio Renna; Abraham Acevedo-Arozena; Silvia Corrochano; Oana Sadiq; Steve D Brown; David C Rubinsztein
Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease.
Human molecular genetics 2010;19(11):2144-53.
2010: David C Rubinsztein
Cdks regulate autophagy via Vps34.
Molecular cell 2010;38(4):483-4.
2010: Daniel J Klionsky; Guido Kroemer; Beth Levine; Noboru Mizushima; David C Rubinsztein; Michael Thumm; Patrice Codogno; Ana Maria Cuervo; Vojo Deretic; Zvulun Elazar; Juan Fueyo-Margareto; David A Gewirtz; Sharon A Tooze
A comprehensive glossary of autophagy-related molecules and processes.
Autophagy 2010;6(4):438-48.
2010: Maurizio Renna; Maria Jimenez-Sanchez; Sovan Sarkar; David C Rubinsztein
Chemical inducers of autophagy that enhance the clearance of mutant proteins in neurodegenerative diseases.
The Journal of biological chemistry 2010;285(15):11061-7.
2010: Viktor I Korolchuk; Fiona M Menzies; David C Rubinsztein
Mechanisms of cross-talk between the ubiquitin-proteasome and autophagy-lysosome systems.
FEBS letters 2010;584(7):1393-8.
2010: Kevin Moreau; Shouqing Luo; David C Rubinsztein
Cytoprotective roles for autophagy.
Current opinion in cell biology 2010;22(2):206-11.
2010: Makoto Eriguchi; Haruo Mizuta; Shouqing Luo; Yasuo Kuroda; Hideo Hara; David C Rubinsztein
alpha Pix enhances mutant huntingtin aggregation.
Journal of the neurological sciences 2010;290(1-2):80-5.
2010: Shuqiu Zheng; Erin B D Clabough; Sovan Sarkar; Marie Futter; David C Rubinsztein; Scott O Zeitlin
Deletion of the huntingtin polyglutamine stretch enhances neuronal autophagy and longevity in mice.
PLoS genetics 2010;6(2):e1000838.
2010: Fiona M Menzies; David C Rubinsztein
Broadening the therapeutic scope for rapamycin treatment.
Autophagy 2010;6(2):286-7.
2010: Luo Shouqing; David C Rubinsztein
Apoptosis blocks Beclin 1-dependent autophagosome synthesis: an effect rescued by Bcl-xL.
Cell death and differentiation 2010;17(2):268-77.
2010: Lesley Jones; Peter A Holmans; Marian L Hamshere; Denise Harold; Valentina Moskvina; Dobril Ivanov; Andrew Pocklington; Richard Abraham; Paul Hollingworth; Rebecca Sims; Amy Gerrish; Jaspreet Singh Pahwa; Nicola Jones; Alexandra Stretton; Angharad R Morgan; Simon Lovestone; John Powell; Petroula Proitsi; Michelle K Lupton; Carol Brayne; David C Rubinsztein; Michael Gill; Brian Lawlor; Aoibhinn Lynch; Kevin Morgan; Kristelle S Brown; Peter A Passmore; David Craig; Bernadette McGuinness; Stephen Todd; Clive Holmes; David Mann; A David Smith; Seth Love; Patrick G Kehoe; Simon Mead; Nick C Fox; Martin N Rossor; John Collinge; Wolfgang Maier; Frank Jessen; Britta Schürmann; Reinhard Heun; Heike Kölsch; Hendrik van den Bussche; Isabella Heuser; Oliver Peters; Johannes Kornhuber; Jens Wiltfang; Martin Dichgans; Lutz Frölich; Harald Hampel; Michael Hüll; Dan Rujescu; Alison Goate; John S K Kauwe; Carlos Cruchaga; Petra Nowotny; John C Morris; Kevin Mayo; Gill Livingston; Nicholas J Bass; Hugh Gurling; Andrew McQuillin; Rhian Gwilliam; Panos Deloukas; Ammar Al-Chalabi; Christopher E Shaw; Andrew Singleton; Rita Guerreiro; Thomas W Mühleisen; Markus M Nöthen; Susanne Moebus; Karl-Heinz Jöckel; Norman Klopp; H-Erich Wichmann; Eckhard Rüther; Minerva M Carrasquillo; V Shane Pankratz; Steven G Younkin; John Hardy; Michael C O'Donovan; Michael J Owen; Julie Williams
Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease.
PloS one 2010;5(11):e13950.
2010: David C Rubinsztein
Autophagy: where next?
EMBO reports 2010;11(1):3.
2010: Fiona M Menzies; Jeannette Huebener; Maurizio Renna; Michael Bonin; Olaf Riess; David C Rubinsztein
Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3.
Brain : a journal of neurology 2010;133(Pt 1):93-104.
2010: H A D Keage; Fiona E Matthews; A Yip; L Gao; Cherie McCracken; Ian G McKeith; David C Rubinsztein; Carol Brayne
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 and ageing 2010;39(1):104-11.
2010: Sergio Rodriguez-Cuenca; Helena M Cochemé; Angela Logan; Irina Abakumova; Tracy A Prime; Claudia Rose; antonio vidal-puig; Anthony C Smith; David C Rubinsztein; Ian M Fearnley; Bruce A Jones; Simon Pope; Simon J R Heales; Brian Y H Lam; Sudeshna Guha Neogi; Ian McFarlane; Andrew M James; Robin A J Smith; Michael P Murphy
Consequences of long-term oral administration of the mitochondria-targeted antioxidant MitoQ to wild-type mice.
Free radical biology & medicine 2010;48(1):161-72.
2010: Michelle K Lupton; Daniel Stahl; Nicola Archer; Catherine Foy; Michaela Poppe; Simon Lovestone; Paul Hollingworth; Julie Williams; Michael J Owen; Kimberley Dowzell; Richard Abraham; Rebecca Sims; Carol Brayne; David C Rubinsztein; Michael Gill; Brian A Lawlor; Aoibhinn Lynch; John F Powell
Education, occupation and retirement age effects on the age of onset of Alzheimer's disease.
International journal of geriatric psychiatry 2010;25(1):30-6.
2009: Denise Harold; Richard Abraham; Paul Hollingworth; Rebecca Sims; Amy Gerrish; Marian L Hamshere; Jaspreet Singh Pahwa; Valentina Moskvina; Kimberley Dowzell; Amy Williams; Nicola Jones; Charlene Thomas; Alexandra Stretton; Angharad R Morgan; Simon Lovestone; John Powell; Petroula Proitsi; Michelle K Lupton; Carol Brayne; David C Rubinsztein; Michael Gill; Brian Lawlor; Aoibhinn Lynch; Kevin Morgan; Kristelle S Brown; Peter A Passmore; David Craig; Bernadette McGuinness; Stephen Todd; Clive Holmes; D M A Mann; A David Smith; Seth Love; Patrick G Kehoe; John Hardy; Simon Mead; Nick C Fox; Martin N Rossor; John Collinge; Wolfgang Maier; Frank Jessen; Britta Schürmann; Hendrik van den Bussche; Isabella Heuser; Johannes Kornhuber; Jens Wiltfang; Martin Dichgans; Lutz Froelich; Harald Hampel; Michael Hüll; Dan Rujescu; Alison Goate; John S K Kauwe; Carlos Cruchaga; Petra Nowotny; John C Morris; Kevin Mayo; Kristel Sleegers; Karolien Bettens; Sebastiaan Engelborghs; Peter P De Deyn; Christine Van Broeckhoven; Gillian Livingston; Nicholas J Bass; Hugh Gurling; Andrew McQuillin; Rhian Gwilliam; Panagiotis Deloukas; Ammar Al-Chalabi; Christopher Shaw; Magda Tsolaki; Andrew Singleton; Rita Guerreiro; Thomas W Mühleisen; Markus M Nöthen; Susanne Moebus; Karl-Heinz Jöckel; Norman Klopp; H-Erich Wichmann; Minerva M Carrasquillo; V Shane Pankratz; Steven G Younkin; Peter A Holmans; Michael O'Donovan; Michael J Owen; Julie Williams
Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.
Nature genetics 2009;41(10):1088-93.
2009: R Sims; Paul Hollingworth; Valentina Moskvina; K Dowzell; Michael C O'Donovan; John Powell; Simon Lovestone; Carol Brayne; David C Rubinsztein; Michael J Owen; Julie Williams; Richard Abraham
Evidence that variation in the oligodendrocyte lineage transcription factor 2 (OLIG2) gene is associated with psychosis in Alzheimer's disease.
Neuroscience letters 2009;461(1):54-9.
2009: Luca Jahreiss; Maurizio Renna; Robert Bittman; Gilbert Arthur; David C Rubinsztein
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 2009;5(6):835-46.
2009: Viktor I Korolchuk; Fiona M Menzies; David C Rubinsztein
A novel link between autophagy and the ubiquitin-proteasome system.
Autophagy 2009;5(6):862-3.
2009: L Galluzzi; S A Aaronson; J Abrams; E S Alnemri; D W Andrews; E H Baehrecke; N G Bazan; M V Blagosklonny; K Blomgren; C Borner; Dale E Bredesen; C Brenner; M Castedo; J A Cidlowski; Aaron Ciechanover; G M Cohen; V De Laurenzi; R De Maria; Mohanish Deshmukh; Brian David Dynlacht; Wafik S El-Deiry; R A Flavell; S Fulda; C Garrido; P Golstein; M-L Gougeon; D R Green; Hinrich Gronemeyer; Gyorgy Hajn\u2264czky; J Marie Hardwick; M O Hengartner; H Ichijo; M Jäättelä; O Kepp; A Kimchi; Daniel J Klionsky; R A Knight; Sally Kornbluth; S Kumar; Beth Levine; S A Lipton; E Lugli; F Madeo; W Malomi; J-C W Marine; S J Martin; J P Medema; P Mehlen; G Melino; Ute M Moll; E Morselli; S Nagata; D W Nicholson; P Nicotera; G Nuñez; M Oren; J Penninger; S Pervaiz; M E Peter; M Piacentini; J H M Prehn; H Puthalakath; G A Rabinovich; R Rizzuto; C M P Rodrigues; David C Rubinsztein; T Rudel; LUCA SCORRANO; H-U Simon; H Steller; J Tschopp; Y Tsujimoto; P Vandenabeele; I Vitale; K H Vousden; R J Youle; J Yuan; B Zhivotovsky; G Kroemer
Guidelines for the use and interpretation of assays for monitoring cell death in higher eukaryotes.
Cell death and differentiation 2009;16(8):1093-107.
2009: M Futter; H Diekmann; E Schoenmakers; O Sadiq; Krishna Chatterjee; David C Rubinsztein
Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors.
Journal of medical genetics 2009;46(7):438-46.
2009: David C Rubinsztein; Ana Maria Cuervo; Brinda Ravikumar; Sovan Sarkar; Viktor Korolchuk; Susmita Kaushik; Daniel J Klionsky
In search of an "autophagomometer".
Autophagy 2009;5(5):585-9.
2009: Brinda Ravikumar; Marie Futter; Luca Jahreiss; Viktor I Korolchuk; Maike Lichtenberg; Shouqing Luo; Dunecan C O Massey; Fiona M Menzies; Usha Narayanan; Maurizio Renna; Maria Jimenez-Sanchez; Sovan Sarkar; Benjamin Underwood; Ashley Winslow; David C Rubinsztein
Mammalian macroautophagy at a glance.
Journal of cell science 2009;122(Pt 11):1707-11.
2009: Sovan Sarkar; Viktor I Korolchuk; Maurizio Renna; Ashley Winslow; David C Rubinsztein
Methodological considerations for assessing autophagy modulators: a study with calcium phosphate precipitates.
Autophagy 2009;5(3):307-13.
2009: Shouqing Luo; David C Rubinsztein
Huntingtin promotes cell survival by preventing Pak2 cleavage.
Journal of cell science 2009;122(Pt 6):875-85.
2009: Viktor I Korolchuk; Alicia Mansilla; Fiona M Menzies; David C Rubinsztein
Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates.
Molecular cell 2009;33(4):517-27.
2009: Heike Diekmann; Oleg Anichtchik; Angeleen Fleming; Marie Futter; Paul Goldsmith; Alan Roach; David C Rubinsztein
Decreased BDNF levels are a major contributor to the embryonic phenotype of huntingtin knockdown zebrafish.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2009;29(5):1343-9.
2009: A R Morgan; Paul Hollingworth; Richard Abraham; Simon Lovestone; Carol Brayne; David C Rubinsztein; A Lynch; Brian A Lawlor; Michael Gill; Michael C O'Donovan; Michael J Owen; Julie Williams
Association analysis of dynamin-binding protein (DNMBP) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2009;150B(1):61-4.
2009: Sovan Sarkar; Brinda Ravikumar; David C Rubinsztein
Autophagic clearance of aggregate-prone proteins associated with neurodegeneration.
Methods in enzymology 2009;453():83-110.
2009: S Sarkar; B Ravikumar; R A Floto; David C Rubinsztein
Rapamycin and mTOR-independent autophagy inducers ameliorate toxicity of polyglutamine-expanded huntingtin and related proteinopathies.
Cell death and differentiation 2009;16(1):46-56.
2008: Ashley R Winslow; David C Rubinsztein
Autophagy in neurodegeneration and development.
Biochimica et biophysica acta 2008;1782(12):723-9.
2008: Daniel J Klionsky; Zvulun Elazar; Per O Seglen; David C Rubinsztein
Does bafilomycin A1 block the fusion of autophagosomes with lysosomes?
Autophagy 2008;4(7):849-950.
2008: A R Morgan; Gillian Hamilton; Darko Turic; Luke Jehu; Denise Harold; Richard Abraham; Paul Hollingworth; Valentina Moskvina; Carol Brayne; David C Rubinsztein; A Lynch; Brian A Lawlor; Michael Gill; Michael O'Donovan; John Powell; Simon Lovestone; Julie Williams; Michael J Owen
Association analysis of 528 intra-genic SNPs in a region of chromosome 10 linked to late onset Alzheimer's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008;147B(6):727-31.
2008: Sovan Sarkar; David C Rubinsztein
Small molecule enhancers of autophagy for neurodegenerative diseases.
Molecular bioSystems 2008;4(9):895-901.
2008: David C Rubinsztein
Functional genomics approaches to neurodegenerative diseases.
Mammalian genome : official journal of the International Mammalian Genome Society 2008;19(9):587-90.
2008: Sovan Sarkar; David C Rubinsztein
Huntington's disease: degradation of mutant huntingtin by autophagy.
The FEBS journal 2008;275(17):4263-70.
2008: Oleg Anichtchik; Heike Diekmann; Angeleen Fleming; Alan Roach; Paul Goldsmith; David C Rubinsztein
Loss of PINK1 function affects development and results in neurodegeneration in zebrafish.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2008;28(33):8199-207.
2008: Sara Imarisio; Jenny Carmichael; Viktor Korolchuk; Chien-Wen Chen; Shinji Saiki; Claudia Rose; Gauri Krishna; Janet E Davies; Evangelia Ttofi; Benjamin R Underwood; David C Rubinsztein
Huntington's disease: from pathology and genetics to potential therapies.
The Biochemical journal 2008;412(2):191-209.
2008: Brinda Ravikumar; Sara Imarisio; Sovan Sarkar; Cahir J O'Kane; David C Rubinsztein
Rab5 modulates aggregation and toxicity of mutant huntingtin through macroautophagy in cell and fly models of Huntington disease.
Journal of cell science 2008;121(Pt 10):1649-60.
2008: Andrea Williams; Sovan Sarkar; Paul Cuddon; Evangelia K Ttofi; Shinji Saiki; Farah H Siddiqi; Luca Jahreiss; Angeleen Fleming; Dean Pask; Paul Goldsmith; Cahir J O'Kane; R Andres Floto; David C Rubinsztein
Novel targets for Huntington's disease in an mTOR-independent autophagy pathway.
Nature chemical biology 2008;4(5):295-305.
2008: Janet E Davies; Sovan Sarkar; David C Rubinsztein
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.
Human molecular genetics 2008;17(8):1097-108.
2008: Luca Jahreiss; Fiona M Menzies; David C Rubinsztein
The itinerary of autophagosomes: from peripheral formation to kiss-and-run fusion with lysosomes.
Traffic (Copenhagen, Denmark) 2008;9(4):574-87.
2008: Luo Shouqing; Haruo Mizuta; David C Rubinsztein
p21-activated kinase 1 promotes soluble mutant huntingtin self-interaction and enhances toxicity.
Human molecular genetics 2008;17(6):895-905.
2008: Yonghong Li; Andrew Grupe; Charles Rowland; Peter Holmans; Ricardo Segurado; Richard Abraham; Lesley Jones; Joseph J Catanese; David Ross; Kevin Mayo; Maribel Martinez; Paul Hollingworth; Alison Goate; Nigel J Cairns; Brad A Racette; Joel S Perlmutter; Michael C O'Donovan; John C Morris; Carol Brayne; David C Rubinsztein; Simon Lovestone; Leon J Thal; Michael J Owen; Julie Williams
Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease.
Human molecular genetics 2008;17(5):759-67.
2008: Daniel J Klionsky; Hagai Abeliovich; Patrizia Agostinis; Devendra K Agrawal; Gjumrakch Aliev; David S Askew; Misuzu Baba; Eric H Baehrecke; Ben A Bahr; Andrea Ballabio; Bruce A Bamber; Diane C Bassham; Ettore Bergamini; Xiaoning Bi; Martine Biard-Piechaczyk; Janice S Blum; Dale E Bredesen; Jeffrey L Brodsky; John H Brumell; Ulf T Brunk; Wilfried Bursch; Nadine Camougrand; Eduardo Cebollero; Francesco Cecconi; Yingyu Chen; Lih-Shen Chin; Augustine Choi; Charleen T Chu; Jongkyeong Chung; Peter G H Clarke; Robert S B Clark; Steven G Clarke; Corinne Clavé; John L Cleveland; Patrice Codogno; María I Colombo; Ana Coto-Montes; James M Cregg; Ana Maria Cuervo; Jayanta Debnath; Francesca Demarchi; Patrick B Dennis; Phillip A Dennis; Vojo Deretic; Rodney J Devenish; Federica Di Sano; J Fred Dice; Marian DiFiglia; Savithramma Dinesh-Kumar; Clark W Distelhorst; Mojgan Djavaheri-Mergny; Frank C Dorsey; Wulf Dröge; Michel Dron; William A Dunn; Michael Duszenko; N Tony Eissa; Zvulun Elazar; Audrey Esclatine; Eeva-Liisa Eskelinen; László Fésüs; Kim D Finley; Jose M. Fuentes; Juan Fueyo; Kozo Fujisaki; Brigitte Galliot; Fen-Biao Gao; David Gewirtz; Spencer B Gibson; Antje Gohla; Alfred L Goldberg; Ramon Gonzalez; Cristina González-Estévez; Sharon Gorski; Roberta Anne Gottlieb; Dieter Häussinger; You-Wen He; Kim Heidenreich; Joseph A Hill; Maria Høyer-Hansen; Xun Hu; Wei-Pang Huang; Akiko Iwasaki; Marja Jäättelä; William T Jackson; Xuejun Jiang; Shengkan Jin; Terje Johansen; Jae U. Jung; Motoni Kadowaki; Chanhee Kang; Ameeta Kelekar; David Kessel; Jan A K W Kiel; hong pyo kim; Adi Kimchi; Timothy J Kinsella; Kirill Kiselyov; Katsuhiko Kitamoto; Erwin Knecht; Masaaki Komatsu; Eiki Kominami; Seiji Kondo; Attila L Kovács; Guido Kroemer; Chia-Yi Kuan; Rakesh Kumar; Mondira Kundu; Jacques Landry; Marianne Laporte; Weidong Le; Huan-Yao Lei; Michael J Lenardo; Beth Levine; Andrew P Lieberman; Kah-Leong Lim; Fu-Cheng Lin; Willisa Liou; Leroy F Liu; Gabriel Lopez-Berestein; Carlos López-Otín; Bo Lu; Kay F Macleod; Walter Malorni; Wim Martinet; Ken Matsuoka; Josef Mautner; Alfred J Meijer; Alicia Meléndez; Paul Michels; Giovanni Miotto; wilhelm mistiaen; Noboru Mizushima; Baharia Mograbi; Iryna Monastyrska; Michael N Moore; Paula I Moreira; Yuji Moriyasu; Tomasz Motyl; Christian Münz; Leon O Murphy; Naweed I Naqvi; Thomas P Neufeld; Ichizo Nishino; Ralph A. Nixon; takeshi noda; Bernd Nürnberg; Michinaga Ogawa; Nancy L Oleinick; Laura J Olsen; Bulent Ozpolat; Shoshana Paglin; Glen E Palmer; Issidora Papassideri; Miles Parkes; David H Perlmutter; George Perry; Mauro Piacentini; Ronit Pinkas-Kramarski; Mark Prescott; Tassula Proikas-Cezanne; Nina Raben; Abdelhaq Rami; Fulvio Reggiori; Bärbel Rohrer; David C Rubinsztein; Kevin M Ryan; Junichi Sadoshima; Hiroshi Sakagami; Yasuyoshi Sakai; Marco Sandri; Chihiro Sasakawa; Miklós Sass; Claudio Schneider; Per O Seglen; Oleksandr Seleverstov; Jeffrey Settleman; John J Shacka; Irving M Shapiro; Andrei Sibirny; Elaine C M Silva-Zacarin; Hans-Uwe Simon; Cristiano Simone; Anne Simonsen; Mark A. Smith; Katharina Spanel-Borowski; Vickram Srinivas; Meredith Steeves; Harald Stenmark; Per E Stromhaug; Carlos S Subauste; Seiichiro Sugimoto; David Sulzer; Toshihiko Suzuki; Michele S Swanson; Ira Tabas; Fumihiko Takeshita; Nicholas J Talbot; Zsolt Tallóczy; Keiji Tanaka; Kozo Tanaka; Isei Tanida; Graham S Taylor; J. Paul Taylor; Alexei Terman; Gianluca Tettamanti; Craig Thompson; Michael Thumm; Aviva M Tolkovsky; Sharon A Tooze; Ray Truant; Lesya V Tumanovska; Yasuo Uchiyama; Takashi Ueno; Néstor L Uzcátegui; Ida van der Klei; Eva C Vaquero; Tibor Vellai; Michael W Vogel; Hong-Gang Wang; Paul Webster; John W Wiley; Zhijun Xi; Gutian Xiao; Joachim Yahalom; Jin-Ming Yang; George Yap; Xiao-Ming Yin; Tamotsu Yoshimori; Li Yu; Zhenyu Yue; Michisuke Yuzaki; Olga Zabirnyk; Xiaoxiang Zheng; Xiongwei Zhu; Russell L Deter
Guidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotes.
Autophagy 2008;4(2):151-75.
2008: Sovan Sarkar; Gauri Krishna; Sara Imarisio; Shinji Saiki; Cahir J O'Kane; David C Rubinsztein
A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin.
Human molecular genetics 2008;17(2):170-8.
2008: Brinda Ravikumar; Sovan Sarkar; David C Rubinsztein
Clearance of mutant aggregate-prone proteins by autophagy.
Methods in molecular biology (Clifton, N.J.) 2008;445():195-211.
2008: Benjamin R Underwood; David C Rubinsztein
Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies.
Cerebellum (London, England) 2008;7(2):215-21.
2008: Carmine Settembre; Alessandro Fraldi; David C Rubinsztein; Andrea Ballabio
Lysosomal storage diseases as disorders of autophagy.
Autophagy 2008;4(1):113-4.
2008: Carmine Settembre; Alessandro Fraldi; Luca Jahreiss; Carmine Spampanato; Consuelo Venturi; Diego Medina; Raquel de Pablo; Carlo Tacchetti; David C Rubinsztein; Andrea Ballabio
A block of autophagy in lysosomal storage disorders.
Human molecular genetics 2008;17(1):119-29.
2007: Sohini Chakrabortee; Chiara Boschetti; Laura J Walton; Sovan Sarkar; David C Rubinsztein; Alan Tunnacliffe
Hydrophilic protein associated with desiccation tolerance exhibits broad protein stabilization function.
Proceedings of the National Academy of Sciences of the United States of America 2007;104(46):18073-8.
2007: R Andres Floto; Sovan Sarkar; Ethan O Perlstein; Beate Kampmann; Stuart L Schreiber; David C Rubinsztein
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 2007;3(6):620-2.
2007: A R Morgan; Darko Turic; Luke Jehu; Gillian Hamilton; Paul Hollingworth; Valentina Moskvina; Lesley Jones; Simon Lovestone; Carol Brayne; David C Rubinsztein; Brian A Lawlor; Michael Gill; Michael C O'Donovan; Michael J Owen; Julie Williams
Association studies of 23 positional/functional candidate genes on chromosome 10 in late-onset Alzheimer's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(6):762-70.
2007: Luo Shouqing; David C Rubinsztein
Atg5 and Bcl-2 provide novel insights into the interplay between apoptosis and autophagy.
Cell death and differentiation 2007;14(7):1247-50.
2007: David C Rubinsztein
Autophagy induction rescues toxicity mediated by proteasome inhibition.
Neuron 2007;54(6):854-6.
2007: Denise Harold; Luke Jehu; Darko Turic; Paul Hollingworth; Pamela Moore; P Summerhayes; Valentina Moskvina; Catherine Foy; Nicola Archer; B A Hamilton; Simon Lovestone; John Powell; Carol Brayne; David C Rubinsztein; Lesley Jones; Michael C O'Donovan; Michael J Owen; Julie Williams
Interaction between the ADAM12 and SH3MD1 genes may confer susceptibility to late-onset Alzheimer's disease.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007;144B(4):448-52.
2007: Sovan Sarkar; Ethan O Perlstein; Sara Imarisio; Sandra Pineau; Axelle Cordenier; Rebecca L Maglathlin; John A Webster; Timothy A Lewis; Cahir J O'Kane; Stuart L Schreiber; David C Rubinsztein
Small molecules enhance autophagy and reduce toxicity in Huntington's disease models.
Nature chemical biology 2007;3(6):331-8.
2007: Andrew Grupe; Richard Abraham; Yonghong Li; Charles Rowland; Paul Hollingworth; Angharad Morgan; Luke Jehu; Ricardo Segurado; David Stone; Eric Schadt; Maha Karnoub; Petra Nowotny; Kristina Tacey; Joseph J Catanese; John J Sninsky; Carol Brayne; David C Rubinsztein; Michael Gill; Brian A Lawlor; Simon Lovestone; Peter Holmans; Michael O'Donovan; John C Morris; Leon J Thal; Alison Goate; Michael J Owen; Julie Williams
Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants.
Human molecular genetics 2007;16(8):865-73.
2007: David C Rubinsztein; Jason E Gestwicki; Leon O Murphy; Daniel J Klionsky
Potential therapeutic applications of autophagy.
Nature reviews. Drug discovery 2007;6(4):304-12.
2007: Sovan Sarkar; Janet E Davies; Zebo Huang; Alan Tunnacliffe; David C Rubinsztein
Trehalose, a novel mTOR-independent autophagy enhancer, accelerates the clearance of mutant huntingtin and alpha-synuclein.
The Journal of biological chemistry 2007;282(8):5641-52.
2007: Matt J Neville; Robert Clarke; John Grimley Evans; David C Rubinsztein; Fredrik Karpe
Absence of relationship between MTTP haplotypes and longevity.
The journals of gerontology. Series A, Biological sciences and medical sciences 2007;62(2):202-5.
2007: Hui Yang; Xiaoyan Zhong; Petek Ballar; Shouqing Luo; Yuxian Shen; David C Rubinsztein; Mervyn Monteiro; Shengyun Fang
Ubiquitin ligase Hrd1 enhances the degradation and suppresses the toxicity of polyglutamine-expanded huntingtin.
Experimental cell research 2007;313(3):538-50.
2007: Janet E Davies; Sovan Sarkar; David C Rubinsztein
The ubiquitin proteasome system in Huntington's disease and the spinocerebellar ataxias.
BMC biochemistry 2007;8 Suppl 1():S2.
2006: J E Davies; David C Rubinsztein
Polyalanine and polyserine frameshift products in Huntington's disease.
Journal of medical genetics 2006;43(11):893-6.
2006: David C Rubinsztein
The roles of intracellular protein-degradation pathways in neurodegeneration.
Nature 2006;443(7113):780-6.
2006: Brinda Ravikumar; David C Rubinsztein
Role of autophagy in the clearance of mutant huntingtin: a step towards therapy?
Molecular aspects of medicine 2006;27(5-6):520-7.
2006: Jonathan P Roiser; Andrew D Blackwell; Roshan Cools; Luke Clark; David C Rubinsztein; Trevor W Robbins; Barbara J Sahakian
Serotonin transporter polymorphism mediates vulnerability to loss of incentive motivation following acute tryptophan depletion.
Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology 2006;31(10):2264-72.
2006: Paul Hollingworth; Marian Hamshere; Valentina Moskvina; Kimberley Dowzell; Pamela J Moore; Catherine Foy; Nicola Archer; Aoibhinn Lynch; Simon Lovestone; Carol Brayne; David C Rubinsztein; Brian A Lawlor; Mike Gill; Michael J Owen; Julie Williams
Four components describe behavioral symptoms in 1,120 individuals with late-onset Alzheimer's disease.
Journal of the American Geriatrics Society 2006;54(9):1348-54.
2006: Yonghong Li; Andrew Grupe; Charles Rowland; Petra Nowotny; John S K Kauwe; Scott Smemo; Anthony L Hinrichs; Kristina Tacey; Timothy A Toombs; Shirley Kwok; Joseph J Catanese; Thomas J White; Taylor J Maxwell; Paul Hollingworth; Richard Abraham; David C Rubinsztein; Carol Brayne; Fabienne Wavrant-De Vrièze; John Hardy; Michael O'Donovan; Simon Lovestone; John C Morris; Leon J Thal; Michael J Owen; Julie Williams; Alison Goate
DAPK1 variants are associated with Alzheimer's disease and allele-specific expression.
Human molecular genetics 2006;15(17):2560-8.
2006: Fiona M Menzies; Brinda Ravikumar; David C Rubinsztein
Protective roles for induction of autophagy in multiple proteinopathies.
Autophagy 2006;2(3):224-5.
2006: Wei Li; Louise C Serpell; Wendy J Carter; David C Rubinsztein; James A Huntington
Expression and characterization of full-length human huntingtin, an elongated HEAT repeat protein.
The Journal of biological chemistry 2006;281(23):15916-22.
2006: Anat Yanai; Kun Huang; Rujun Kang; Roshni R Singaraja; Pamela Arstikaitis; Lu Gan; Paul C Orban; Asher Mullard; Catherine M Cowan; Lynn A Raymond; Renaldo C Drisdel; William N Green; Brinda Ravikumar; David C Rubinsztein; Alaa El-Husseini; Michael R Hayden
Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function.
Nature neuroscience 2006;9(6):824-31.
2006: David C Rubinsztein; James A Huntington
Paradoxical aggregation versus oligomerisation properties of mutant and wild-type huntingtin fragments.
Experimental neurology 2006;199(2):243-4.
2006: Sovan Sarkar; David C Rubinsztein
Inositol and IP3 levels regulate autophagy: biology and therapeutic speculations.
Autophagy 2006;2(2):132-4.
2006: Brinda Ravikumar; Zdenek Berger; Coralie Vacher; Cahir J O'Kane; David C Rubinsztein
Rapamycin pre-treatment protects against apoptosis.
Human molecular genetics 2006;15(7):1209-16.
2006: Benjamin R Underwood; David Broadhurst; Warwick B Dunn; David I Ellis; Andrew W Michell; Coralie Vacher; David Mosedale; Douglas B Kell; Roger A Barker; David J Grainger; David C Rubinsztein
Huntington disease patients and transgenic mice have similar pro-catabolic serum metabolite profiles.
Brain : a journal of neurology 2006;129(Pt 4):877-86.
2006: Andrea Ciarmiello; Milena Cannella; Secondo Lastoria; Maria Simonelli; Luigi Frati; David C Rubinsztein; Ferdinando Squitieri
Brain white-matter volume loss and glucose hypometabolism precede the clinical symptoms of Huntington's disease.
Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2006;47(2):215-22.
2006: Zdenek Berger; Janet E Davies; Luo Shouqing; Matthieu Y Pasco; Irina Majoul; Cahir J O'Kane; David C Rubinsztein
Deleterious and protective properties of an aggregate-prone protein with a polyalanine expansion.
Human molecular genetics 2006;15(3):453-65.
2006: Zdenek Berger; Brinda Ravikumar; Fiona M Menzies; Lourdes Garcia Oroz; Benjamin R Underwood; Menelas Pangalos; Ina Schmitt; Ullrich Wüllner; Bernd Evert; Cahir J O'Kane; David C Rubinsztein
Rapamycin alleviates toxicity of different aggregate-prone proteins.
Human molecular genetics 2006;15(3):433-42.
2006: Andrea Williams; Luca Jahreiss; Sovan Sarkar; Shinji Saiki; Fiona M Menzies; Brinda Ravikumar; David C Rubinsztein
Aggregate-prone proteins are cleared from the cytosol by autophagy: therapeutic implications.
Current topics in developmental biology 2006;76():89-101.
2006: David C Rubinsztein
Protein-protein interaction networks in the spinocerebellar ataxias.
Genome biology 2006;7(8):229.
2006: Janet E Davies; Zdenek Berger; David C Rubinsztein
Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder.
The international journal of biochemistry & cell biology 2006;38(9):1457-62.
2006: Janet E Davies; Sovan Sarkar; David C Rubinsztein
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy.
Human molecular genetics 2006;15(1):23-31.
2005: Shu-Yan Cong; Barry A Pepers; Bernd Evert; David C Rubinsztein; Raymund A C Roos; Gert-Jan B van Ommen; Josephine C Dorsman
Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.
Molecular and cellular neurosciences 2005;30(4):560-71.
2005: Coralie Vacher; Lourdes Garcia-Oroz; David C Rubinsztein
Overexpression of yeast hsp104 reduces polyglutamine aggregation and prolongs survival of a transgenic mouse model of Huntington's disease.
Human molecular genetics 2005;14(22):3425-33.
2005: Luke Clark; Jonathan P Roiser; Roshan Cools; David C Rubinsztein; Barbara J Sahakian; Trevor W Robbins
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 2005;182(4):570-8.
2005: Zdenek Berger; Evangelia K Ttofi; Claire H Michel; Matthieu Y Pasco; Sean Tenant; David C Rubinsztein; Cahir J O'Kane
Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway.
Human molecular genetics 2005;14(20):3003-11.
2005: David C Rubinsztein; Brinda Ravikumar; Abraham Acevedo-Arozena; Sara Imarisio; Cahir J O'Kane; Steve D M Brown
Dyneins, autophagy, aggregation and neurodegeneration.
Autophagy 2005;1(3):177-8.
2005: Sovan Sarkar; R Andres Floto; Zdenek Berger; Sara Imarisio; Axelle Cordenier; Matthieu Y Pasco; Lynnette J Cook; David C Rubinsztein
Lithium induces autophagy by inhibiting inositol monophosphatase.
The Journal of cell biology 2005;170(7):1101-11.
2005: Shu-Yan Cong; Barry A Pepers; Bernd Evert; David C Rubinsztein; Raymund A C Roos; Gert-Jan B van Ommen; Josephine C Dorsman
Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.
Molecular and cellular neurosciences 2005;30(1):12-23.
2005: Brinda Ravikumar; Abraham Acevedo-Arozena; Sara Imarisio; Zdenek Berger; Coralie Vacher; Cahir J O'Kane; Steve D M Brown; David C Rubinsztein
Dynein mutations impair autophagic clearance of aggregate-prone proteins.
Nature genetics 2005;37(7):771-6.
2005: Janet E Davies; Lin Wang; Lourdes Garcia-Oroz; Lynnette J Cook; Coralie Vacher; Dominic G O'Donovan; David C Rubinsztein
Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice.
Nature medicine 2005;11(6):672-7.
2005: Luo Shouqing; Coralie Vacher; Janet E Davies; David C Rubinsztein
Cdk5 phosphorylation of huntingtin reduces its cleavage by caspases: implications for mutant huntingtin toxicity.
The Journal of cell biology 2005;169(4):647-56.
2005: David C Rubinsztein; Marian DiFiglia; Nathaniel Heintz; Ralph A. Nixon; Zheng-Hong Qin; Brinda Ravikumar; Leonidas Stefanis; Aviva M Tolkovsky
Autophagy and its possible roles in nervous system diseases, damage and repair.
Autophagy 2005;1(1):11-22.
2005: Jonathan P Roiser; Lynnette J Cook; Jason D Cooper; David C Rubinsztein; Barbara J Sahakian
Association of a functional polymorphism in the serotonin transporter gene with abnormal emotional processing in ecstasy users.
The American journal of psychiatry 2005;162(3):609-12.
2005: Sarra E Jamieson; Jacqueline K White; Joanna M M Howson; Rebecca Pask; Anne N Smith; Carol Brayne; John Grimley Evans; John H Xuereb; Nigel J Cairns; David C Rubinsztein; Jenefer M Blackwell
Candidate gene association study of solute carrier family 11a members 1 (SLC11A1) and 2 (SLC11A2) genes in Alzheimer's disease.
Neuroscience letters 2005;374(2):124-8.
2005: Lynnette J Cook; Luk W Ho; Lin Wang; Edith Terrenoire; Carol Brayne; John Grimley Evans; John H Xuereb; Nigel J Cairns; Darko Turic; Paul Hollingworth; Pamela J Moore; Luke Jehu; Nicola Archer; Sarah Walter; Catherine Foy; Amanda Edmondson; John Powell; Simon Lovestone; Julie Williams; David C Rubinsztein
Candidate gene association studies of genes involved in neuronal cholinergic transmission in Alzheimer's disease suggests choline acetyltransferase as a candidate deserving further study.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2005;132B(1):5-8.
2004: Julie L Webb; Brinda Ravikumar; David C Rubinsztein
Microtubule disruption inhibits autophagosome-lysosome fusion: implications for studying the roles of aggresomes in polyglutamine diseases.
The international journal of biochemistry & cell biology 2004;36(12):2541-50.
2004: Robert J Ferrante; Hoon Ryu; James K Kubilus; Santosh R D'Mello; Katharine L Sugars; Junghee Lee; Peiyuan Lu; Karen Smith; Susan E Browne; M Flint Beal; Bruce Kristal; Irina G Stavrovskaya; Sandra Hewett; David C Rubinsztein; Brett Langley; Rajiv R Ratan
Chemotherapy for the brain: the antitumor antibiotic mithramycin prolongs survival in a mouse model of Huntington's disease.
The Journal of neuroscience : the official journal of the Society for Neuroscience 2004;24(46):10335-42.
2004: Brinda Ravikumar; David C Rubinsztein
Can autophagy protect against neurodegeneration caused by aggregate-prone proteins?
Neuroreport 2004;15(16):2443-5.
2004: Brinda Ravikumar; Coralie Vacher; Zdenek Berger; Janet E Davies; Luo Shouqing; Lourdes G Oroz; Francesco Scaravilli; Douglas F Easton; Rainer Dr. Duden; Cahir J O'Kane; David C Rubinsztein
Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease.
Nature genetics 2004;36(6):585-95.
2004: Lynnette J Cook; Luk W Ho; Alison E Taylor; Carol Brayne; John Grimley Evans; John H Xuereb; Nigel J Cairns; Antonia Pritchard; Helen Lemmon; D M A Mann; David St Clair; Darko Turic; Paul Hollingworth; Pamela J Moore; Luke Jehu; Nicola Archer; Sarah Walter; Catherine Foy; Amanda Edmondson; John Powell; Simon Lovestone; Michael J Owen; Julie Williams; Corinne Lendon; David C Rubinsztein
Candidate gene association studies of the alpha 4 (CHRNA4) and beta 2 (CHRNB2) neuronal nicotinic acetylcholine receptor subunit genes in Alzheimer's disease.
Neuroscience letters 2004;358(2):142-6.
2004: Katharine L Sugars; Rosemary Brown; Lynnette J Cook; Jina Swartz; David C Rubinsztein
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.
The Journal of biological chemistry 2004;279(6):4988-99.
2004: Yi Ping Bao; S Sarkar; E Uyama; David C Rubinsztein
Congo red, doxycycline, and HSP70 overexpression reduce aggregate formation and cell death in cell models of oculopharyngeal muscular dystrophy.
Journal of medical genetics 2004;41(1):47-51.
2003: David C Rubinsztein
How does the Huntington's disease mutation damage cells?
Science of aging knowledge environment : SAGE KE 2003;2003(37):PE26.
2003: Agustin G Yip; A Dürr; Douglas A Marchuk; Allison Ashley-Koch; A Hentati; David C Rubinsztein; Evan Reid
Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.
Journal of medical genetics 2003;40(9):e106.
2003: David C Rubinsztein; Jenny Carmichael
Huntington's disease: molecular basis of neurodegeneration.
Expert reviews in molecular medicine 2003;5(20):1-21.
2003: CF Hoogendijk; Charlotte L Scholtz; S M Pimstone; E Ehrenborg; J J P Kastelein; JC Defesche; Rochelle Thiart; Lana du Plessis; Nico de Villiers; Monique G Zaahl; Rhena Delport; David C Rubinsztein; L J Raffel; Clarence Grim; S Mediene-Benchekor; P Amouyel; T Brousseau; Krisela Steyn; Carl Lombard; Michael R Hayden; Maritha J Kotze
Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element.
Molecular and cellular probes 2003;17(4):175-81.
2003: Julie L Webb; Brinda Ravikumar; Jane Atkins; Jeremy N Skepper; David C Rubinsztein
Alpha-Synuclein is degraded by both autophagy and the proteasome.
The Journal of biological chemistry 2003;278(27):25009-13.
2003: Katharine L Sugars; David C Rubinsztein
Transcriptional abnormalities in Huntington disease.
Trends in genetics : TIG 2003;19(5):233-8.
2003: Brinda Ravikumar; Abigail Stewart; Hiroko Kita; Kikuya Kato; Rainer Dr. Duden; David C Rubinsztein
Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy.
Human molecular genetics 2003;12(9):985-94.
2003: Ferdinando Squitieri; Cinzia Gellera; Milena Cannella; Caterina Mariotti; giuliana cislaghi; David C Rubinsztein; Elisabeth W Almqvist; David Turner; Anne-Catherine Bachoud-Lévi; Sheila A Simpson; Martin B Delatycki; Vittorio Maglione; Michael R Hayden; Stefano Di Donato
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course.
Brain : a journal of neurology 2003;126(Pt 4):946-55.
2003: David C Rubinsztein
How useful are animal models of human disease?
Seminars in cell & developmental biology 2003;14(1):1-2.
2002: Lynnette Cook; Carol Brayne; Douglas Easton; John Grimley Evans; John H Xuereb; Nigel J Cairns; David C Rubinsztein
No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease.
Annals of neurology 2002;52(5):690-1.
2002: Evan Reid; Mark T Kloos; Allison Ashley-Koch; Lori Hughes; Simon Bevan; Ingrid K Svenson; Felicia L Graham; Perry C Gaskell; Andrew Dearlove; Margaret Pericak-Vance; David C Rubinsztein; Douglas A Marchuk
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
American journal of human genetics 2002;71(5):1189-94.
2002: Jenny Carmichael; Coralie Vacher; David C Rubinsztein
The bacterial chaperonin GroEL requires GroES to reduce aggregation and cell death in a COS-7 cell model of Huntington's disease.
Neuroscience letters 2002;330(3):270-4.
2002: Hiroko Kita; Jenny Carmichael; Jina Swartz; Shizuko Muro; Andreas Wyttenbach; Kenichi Matsubara; David C Rubinsztein; Kikuya Kato
Modulation of polyglutamine-induced cell death by genes identified by expression profiling.
Human molecular genetics 2002;11(19):2279-87.
2002: Jenny Carmichael; Katharine L Sugars; Yi Ping Bao; David C Rubinsztein
Glycogen synthase kinase-3beta inhibitors prevent cellular polyglutamine toxicity caused by the Huntington's disease mutation.
The Journal of biological chemistry 2002;277(37):33791-8.
2002: A G Yip; Carol Brayne; Douglas Easton; David C Rubinsztein
Apolipoprotein E4 is only a weak predictor of dementia and cognitive decline in the general population.
Journal of medical genetics 2002;39(9):639-43.
2002: A G Yip; Carol Brayne; Douglas Easton; David C Rubinsztein
An investigation of ACE as a risk factor for dementia and cognitive decline in the general population.
Journal of medical genetics 2002;39(6):403-6.
2002: Andreas Wyttenbach; Olivier Sauvageot; Jenny Carmichael; Chantal Diaz-Latoud; Andre-Patrik Arrigo; David C Rubinsztein
Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin.
Human molecular genetics 2002;11(9):1137-51.
2002: Brinda Ravikumar; Rainer Dr. Duden; David C Rubinsztein
Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy.
Human molecular genetics 2002;11(9):1107-17.
2002: Yi Ping Bao; Lynnette J Cook; Dominic O'Donovan; Eiichiro Uyama; David C Rubinsztein
Mammalian, yeast, bacterial, and chemical chaperones reduce aggregate formation and death in a cell model of oculopharyngeal muscular dystrophy.
The Journal of biological chemistry 2002;277(14):12263-9.
2002: David C Rubinsztein
Lessons from animal models of Huntington's disease.
Trends in genetics : TIG 2002;18(4):202-9.
2001: A Taylor; Mario Ezquerra; G Bagri; A Yip; L Goumidi; Dominique Cottel; Douglas Easton; John Grimley Evans; J Xuereb; Nigel J Cairns; Philippe Amouyel; Marie-Christine Chartier-Harlin; Carol Brayne; David C Rubinsztein
Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes.
American journal of medical genetics 2001;105(8):761-4.
2001: Andreas Wyttenbach; Jina Swartz; H Kita; Thomas Thykjaer; Jenny Carmichael; J Bradley; Rosemary Brown; M Maxwell; A Schapira; Torben F Orntoft; Kikuya Kato; David C Rubinsztein
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.
Human molecular genetics 2001;10(17):1829-45.
2001: German E Berrios; AC Wagle; Ivana S Marková; SA Wagle; Luk W Ho; David C Rubinsztein; J Whittaker; CK ffrench-Constant; A Kershaw; Anne E Rosser; Thomas H Bak; John R Hodges
Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington's disease gene carriers.
Psychiatry research 2001;102(3):217-25.
2001: Luk W Ho; Rosemary Brown; M Maxwell; Andreas Wyttenbach; David C Rubinsztein
Wild type Huntingtin reduces the cellular toxicity of mutant Huntingtin in mammalian cell models of Huntington's disease.
Journal of medical genetics 2001;38(7):450-2.
2001: R S McConnell; David C Rubinsztein; T F Fannin; C S McKinstry; B Kelly; I C Bailey; A E Hughes
Autosomal dominant polycystic kidney disease unlinked to the PKD1 and PKD2 loci presenting as familial cerebral aneurysm.
Journal of medical genetics 2001;38(4):238-40.
2001: A E Taylor; A Yip; Carol Brayne; Douglas Easton; John Grimley Evans; J Xuereb; Nigel J Cairns; Margaret M Esiri; David C Rubinsztein
Genetic association of an LBP-1c/CP2/LSF gene polymorphism with late onset Alzheimer's disease.
Journal of medical genetics 2001;38(4):232-3.
2001: T Murphy; A Yip; Carol Brayne; Douglas Easton; John Grimley Evans; J Xuereb; Nigel J Cairns; Margaret M Esiri; David C Rubinsztein
The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer's disease.
Neuroreport 2001;12(3):631-4.
2001: Evan Reid; Andrew Escayg; Andrew Dearlove; Miriam H Meisler; David C Rubinsztein
The spastic paraplegia SPG10 locus: narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate.
Journal of medical genetics 2001;38(1):65-7.
2001: Luk W Ho; Jenny Carmichael; Jina Swartz; Andreas Wyttenbach; J Rankin; David C Rubinsztein
The molecular biology of Huntington's disease.
Psychological medicine 2001;31(1):3-14.
2000: Robert A Furlong; M Keramatipour; Luk W Ho; majid shafaee; A Michael; C Walsh; Eugene S Paykel; David C Rubinsztein
No association of an insertion/deletion polymorphism in the angiotensin I converting enzyme gene with bipolar or unipolar affective disorders.
American journal of medical genetics 2000;96(6):733-5.
2000: Andrew Singleton; R Hall; Clive G Ballard; Robert H Perry; John H Xuereb; David C Rubinsztein; C Tysoe; P Matthews; Barbara Cordell; Samir Kumar-Singh; Chris De Jonghe; Marc Cruts; Christine Van Broeckhoven; Christopher M Morris
Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation.
Brain : a journal of neurology 2000;123 Pt 12():2467-74.
2000: Z H Rosser; T Zerjal; M E Hurles; M Adojaan; D Alavantic; António Amorim; W Amos; M Armenteros; E Arroyo; G Barbujani; G Beckman; L Beckman; Jaume Bertranpetit; E Bosch; D G Bradley; G Brede; G Cooper; H B Côrte-Real; P de Knijff; R Decorte; Y E Dubrova; O Evgrafov; A Gilissen; S Glisic; M Gölge; E W Hill; A Jeziorowska; L Kalaydjieva; M Kayser; T Kivisild; S A Kravchenko; A Krumina; V Kucinskas; J Lavinha; L A Livshits; P Malaspina; S Maria; K McElreavey; T A Meitinger; A V Mikelsaar; R J Mitchell; K Nafa; J Nicholson; S Nørby; A Pandya; J Parik; P C Patsalis; L Pereira; B Peterlin; G Pielberg; M J Prata; C Previderé; L Roewer; S Rootsi; David C Rubinsztein; J Saillard; F R Santos; G Stefanescu; B C Sykes; A Tolun; R Villems; C Tyler-Smith; M A Jobling
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language.
American journal of human genetics 2000;67(6):1526-43.
2000: Janet C Lindsey; Meryl E Lusher; Christopher J McDermott; K D White; E Reid; David C Rubinsztein; Rumaisa Bashir; J Hazan; Pamela J Shaw; K M D Bushby
Mutation analysis of the spastin gene (SPG4) in patients with hereditary spastic paraparesis.
Journal of medical genetics 2000;37(10):759-65.
2000: R Coles; M Birdsall; Andreas Wyttenbach; David C Rubinsztein
12-O-tetradecanoyl-phorbol-13-acetate down-regulates the Huntingtin promoter at Sp1 sites.
Neuroreport 2000;11(14):3157-61.
2000: Y Narain; A Yip; T Murphy; Carol Brayne; Douglas Easton; John Grimley Evans; J Xuereb; Nigel J Cairns; Margaret M Esiri; Robert A Furlong; David C Rubinsztein
The ACE gene and Alzheimer's disease susceptibility.
Journal of medical genetics 2000;37(9):695-7.
2000: Jenny Carmichael; J Chatellier; A Woolfson; César Milstein; Alan Fersht; David C Rubinsztein
Bacterial and yeast chaperones reduce both aggregate formation and cell death in mammalian cell models of Huntington's disease.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(17):9701-5.
2000: M Keramatipour; R S McConnell; P Kirkpatrick; Susan Tebbs; Robert A Furlong; David C Rubinsztein
The ACE I allele is associated with increased risk for ruptured intracranial aneurysms.
Journal of medical genetics 2000;37(7):498-500.
2000: J Rankin; Andreas Wyttenbach; David C Rubinsztein
Intracellular green fluorescent protein-polyalanine aggregates are associated with cell death.
The Biochemical journal 2000;348 Pt 1():15-9.
2000: Robert A Furlong; Y Narain; J Rankin; Andreas Wyttenbach; David C Rubinsztein
Alpha-synuclein overexpression promotes aggregation of mutant huntingtin.
The Biochemical journal 2000;346 Pt 3():577-81.
2000: Andreas Wyttenbach; Jenny Carmichael; Jina Swartz; Robert A Furlong; Y Narain; J Rankin; David C Rubinsztein
Effects of heat shock, heat shock protein 40 (HDJ-2), and proteasome inhibition on protein aggregation in cellular models of Huntington's disease.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(6):2898-903.
2000: Luk W Ho; Robert A Furlong; majid shafaee; C Walsh; Eugene S Paykel; David C Rubinsztein
Genetic associations with clinical characteristics in bipolar affective disorder and recurrent unipolar depressive disorder.
American journal of medical genetics 2000;96(1):36-42.
2000: Evan Reid; Andrew Dearlove; O Osborn; MT Rogers; David C Rubinsztein
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.
American journal of human genetics 2000;66(2):728-32.
1999: Robert A Furlong; Luk W Ho; Judy S Rubinsztein; majid shafaee; C Walsh; Eugene S Paykel; David C Rubinsztein
A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases.
Neuroscience letters 1999;277(2):123-6.
1999: Evan Reid; Andrew Dearlove; M L Whiteford; M Rhodes; David C Rubinsztein
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.
Neurology 1999;53(8):1844-9.
1999: G Cooper; Nigel J Burroughs; D A Rand; David C Rubinsztein; William Amos
Markov chain Monte Carlo analysis of human Y-chromosome microsatellites provides evidence of biased mutation.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(21):11916-21.
1999: Evan Reid; C Grayson; David C Rubinsztein; MT Rogers; J S Rubinsztein
Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia.
Journal of medical genetics 1999;36(10):797-8.
1999: Y Narain; Andreas Wyttenbach; J Rankin; Robert A Furlong; David C Rubinsztein
A molecular investigation of true dominance in Huntington's disease.
Journal of medical genetics 1999;36(10):739-46.
1999: G Cooper; W Amos; R Bellamy; M R Siddiqui; A Frodsham; A V Hill; David C Rubinsztein
An empirical exploration of the (delta mu)2 genetic distance for 213 human microsatellite markers.
American journal of human genetics 1999;65(4):1125-33.
1999: Evan Reid; C Grayson; MT Rogers; David C Rubinsztein
Locus-phenotype correlations in autosomal dominant pure hereditary spastic paraplegia. A clinical and molecular genetic study of 28 United Kingdom families.
Brain : a journal of neurology 1999;122 ( Pt 9)():1741-55.
1999: Evan Reid; Andrew Dearlove; M Rhodes; David C Rubinsztein
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.
American journal of human genetics 1999;65(3):757-63.
1999: Robert A Furlong; L Ho; majid shafaee; C Walsh; Eugene S Paykel; David C Rubinsztein
Analysis of the monoamine oxidase A (MAOA) gene in bipolar affective disorder by association studies, meta-analyses, and sequencing of the promoter.
American journal of medical genetics 1999;88(4):398-406.
1999: David C Rubinsztein; Johnny Hon; F Stevens; I Pyrah; C Tysoe; Felicia A Huppert; DF Easton; Anthony J Holland
Apo E genotypes and risk of dementia in Down syndrome.
American journal of medical genetics 1999;88(4):344-7.
1999: R Kirk; Robert A Furlong; W Amos; G Cooper; majid shafaee; C Walsh; Eugene S Paykel; David C Rubinsztein
Mitochondrial genetic analyses suggest selection against maternal lineages in bipolar affective disorder.
American journal of human genetics 1999;65(2):508-18.
1999: Chris De Jonghe; Marc Cruts; Ekaterina Rogaeva; C Tysoe; Andrew Singleton; hugo vanderstichele; W Meschino; Bart Dermaut; I Vanderhoeven; Hubert Backhovens; Eugeen Vanmechelen; Christopher M Morris; John Hardy; David C Rubinsztein; Peter St George-Hyslop; Christine Van Broeckhoven
Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.
Human molecular genetics 1999;8(8):1529-40.
1999: David C Rubinsztein; B Amos; G Cooper
Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in different lineages.
Philosophical transactions of the Royal Society of London. Series B, Biological sciences 1999;354(1386):1095-9.
1999: David C Rubinsztein; DF Easton
Apolipoprotein E genetic variation and Alzheimer's disease. a meta-analysis.
Dementia and geriatric cognitive disorders 1999;10(3):199-209.
1999: D J Dow; N Lindsey; Nigel J Cairns; Carol Brayne; D Robinson; F A Huppert; E S Paykel; J Xuereb; Gordon K Wilcock; J L Whittaker; David C Rubinsztein
Alpha-2 macroglobulin polymorphism and Alzheimer disease risk in the UK.
Nature genetics 1999;22(1):16-7; author reply 21-2.
1999: David C Rubinsztein; Andreas Wyttenbach; J Rankin
Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts?
Journal of medical genetics 1999;36(4):265-70.
1999: Robert A Furlong; majid shafaee; L Ho; C Walsh; T A Coleman; Walter J Muir; Eugene S Paykel; D H Blackwood; David C Rubinsztein
Analysis and metaanalysis of two polymorphisms within the tyrosine hydroxylase gene in bipolar and unipolar affective disorders.
American journal of medical genetics 1999;88(1):88-94.
1998: Robert A Furlong; T A Coleman; L Ho; majid shafaee; C Walsh; Eugene S Paykel; David C Rubinsztein
No association of a functional polymorphism in the dopamine D2 receptor promoter region with bipolar or unipolar affective disorders.
American journal of medical genetics 1998;81(5):385-7.
1998: G Cooper; David C Rubinsztein; William Amos
Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues.
Human molecular genetics 1998;7(9):1425-9.
1998: C Tysoe; D Galinsky; D Robinson; Carol Brayne; Felicia A Huppert; TR Dening; Eugene S Paykel; DF Easton; David C Rubinsztein
Apo E and Apo CI loci are associated with dementia in younger but not older late-onset cases.
Dementia and geriatric cognitive disorders 1998;9(4):191-8.
1998: Andrew D Lawrence; John R Hodges; Anne E Rosser; A Kershaw; CK ffrench-Constant; David C Rubinsztein; Trevor W Robbins; Barbara J Sahakian
Evidence for specific cognitive deficits in preclinical Huntington's disease.
Brain : a journal of neurology 1998;121 ( Pt 7)():1329-41.
1998: Adam Rosenblatt; NG Ranen; David C Rubinsztein; O Colin Stine; Russell L Margolis; MV Wagster; Mark W Becher; A E Rosser; J Leggo; John R Hodges; CK ffrench-Constant; M Sherr; ML Franz; Margaret H Abbott; Christopher A Ross
Patients with features similar to Huntington's disease, without CAG expansion in huntingtin.
Neurology 1998;51(1):215-20.
1998: Robert A Furlong; L Ho; majid shafaee; C Walsh; Eugene S Paykel; David C Rubinsztein
No association of the tryptophan hydroxylase gene with bipolar affective disorder, unipolar affective disorder, or suicidal behaviour in major affective disorder.
American journal of medical genetics 1998;81(3):245-7.
1998: AV Peeters; Maritha J Kotze; Charlotte L Scholtz; L F De Waal; David C Rubinsztein; G A Coetzee; G Zuliani; R Streiff; J Liu; Deneys R van der Westhuyzen
A 3-basepair deletion in repeat 1 of the LDL receptor promoter reduces transcriptional activity in a South African Pedi.
Journal of lipid research 1998;39(5):1021-4.
1998: R Coles; R Caswell; David C Rubinsztein
Functional analysis of the Huntington's disease (HD) gene promoter.
Human molecular genetics 1998;7(5):791-800.
1998: majid shafaee; David C Rubinsztein; S Goodburn; Anthony J Holland
Apathy and hypersomnia are common features of myotonic dystrophy.
Journal of neurology, neurosurgery, and psychiatry 1998;64(4):510-5.
1998: Robert A Furlong; L Ho; C Walsh; majid shafaee; S Jain; Eugene S Paykel; DF Easton; David C Rubinsztein
Analysis and meta-analysis of two serotonin transporter gene polymorphisms in bipolar and unipolar affective disorders.
American journal of medical genetics 1998;81(1):58-63.
1998: C Tysoe; J Whittaker; John H Xuereb; Nigel J Cairns; Marc Cruts; Christine Van Broeckhoven; Gordon K Wilcock; David C Rubinsztein
A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.
American journal of human genetics 1998;62(1):70-6.
1997: J Leggo; A Dalton; Patrick J Morrison; A Dodge; M Connarty; M J Kotze; David C Rubinsztein
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.
Journal of medical genetics 1997;34(12):982-5.
1997: D J Dow; David C Rubinsztein; J R Yates; David Barton; M A Ferguson-Smith
Instability of normal (CTG)n alleles in the DM kinase gene.
Journal of medical genetics 1997;34(10):871-3.
1997: David C Rubinsztein; J Leggo; M Chiano; Simon Israeli-Korn; A Dodge; C norbury; E Rosser; D Craufurd
Homozygotes and heterozygotes for ciliary neurotrophic factor null alleles do not show earlier onset of Huntington's disease.
Neurology 1997;49(3):890-2.
1997: David C Rubinsztein
The genetics of Alzheimer's disease.
Progress in neurobiology 1997;52(6):447-54.
1997: Mark W Becher; David C Rubinsztein; J Leggo; MV Wagster; O Colin Stine; NG Ranen; ML Franz; Margaret H Abbott; M Sherr; J C MacMillan; L Barron; M E M Porteous; Peter S Harper; Christopher A Ross
Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees.
Movement disorders : official journal of the Movement Disorder Society 1997;12(4):519-30.
1997: C A Wise; M Sraml; David C Rubinsztein; Simon Easteal
Comparative nuclear and mitochondrial genome diversity in humans and chimpanzees.
Molecular biology and evolution 1997;14(7):707-16.
1997: R Coles; J Leggo; David C Rubinsztein
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.
Journal of medical genetics 1997;34(5):371-4.
1997: C Tysoe; D Galinsky; D Robinson; Carol Brayne; DF Easton; Felicia A Huppert; TR Dening; Eugene S Paykel; David C Rubinsztein
Analysis of alpha-1 antichymotrypsin, presenilin-1, angiotensin-converting enzyme, and methylenetetrahydrofolate reductase loci as candidates for dementia.
American journal of medical genetics 1997;74(2):207-12.
1997: David C Rubinsztein; J Leggo; M Chiano; A Dodge; C norbury; E Rosser; D Craufurd
Genotypes at the GluR6 kainate receptor locus are associated with variation in the age of onset of Huntington disease.
Proceedings of the National Academy of Sciences of the United States of America 1997;94(8):3872-6.
1997: D Galinsky; C Tysoe; Carol Brayne; DF Easton; Felicia A Huppert; TR Dening; Eugene S Paykel; David C Rubinsztein
Analysis of the apo E/apo C-I, angiotensin converting enzyme and methylenetetrahydrofolate reductase genes as candidates affecting human longevity.
Atherosclerosis 1997;129(2):177-83.
1997: David C Rubinsztein; J Leggo
Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.
Journal of medical genetics 1997;34(3):234-6.
1997: majid shafaee; David C Rubinsztein; Peter J McKenna; S Goodburn; Anthony J Holland
Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.
Journal of medical genetics 1997;34(3):229-33.
1997: Frederick J Raal; GJ Pilcher; David C Rubinsztein; Arno Lingenhel; G Utermann
Statin therapy in a kindred with both apolipoprotein B and low density lipoprotein receptor gene defects.
Atherosclerosis 1997;129(1):97-102.
1997: C Tysoe; J Whittaker; Nigel J Cairns; P F Atkinson; C R Harrington; John H Xuereb; Gordon K Wilcock; David C Rubinsztein
Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.
Neuroscience letters 1997;222(1):68-9.
1996: C Tysoe; D Robinson; Carol Brayne; TR Dening; Eugene S Paykel; Felicia A Huppert; David C Rubinsztein
The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years.
Journal of medical genetics 1996;33(12):1002-6.
1996: G Cooper; William Amos; D Hoffman; David C Rubinsztein
Network analysis of human Y microsatellite haplotypes.
Human molecular genetics 1996;5(11):1759-66.
1996: David C Rubinsztein; J Leggo; T J Crow; Lynn E DeLisi; C Walsh; S Jain; Eugene S Paykel
Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder.
American journal of medical genetics 1996;67(5):495-8.
1996: E Langenhoven; Louise Warnich; Rochelle Thiart; David C Rubinsztein; Deneys R van der Westhuyzen; Adrian David Marais; Maritha J Kotze
Two novel point mutations causing receptor-negative familial hypercholesterolemia in a South African Indian homozygote.
Atherosclerosis 1996;125(1):111-9.
1996: W Amos; S J Sawcer; R W Feakes; David C Rubinsztein
Microsatellites show mutational bias and heterozygote instability.
Nature genetics 1996;13(4):390-1.
1996: David C Rubinsztein; J Leggo; R Coles; E Almqvist; V Biancalana; J J Cassiman; K Chotai; M Connarty; D Crauford; A Curtis; D Curtis; M J Davidson; A M Differ; C Dode; A Dodge; M Frontali; NG Ranen; O Colin Stine; M Sherr; Margaret H Abbott; ML Franz; C A Graham; P S Harper; J C Hedreen; Michael R Hayden
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.
American journal of human genetics 1996;59(1):16-22.
1996: David C Rubinsztein; J Leggo; S Goodburn; C Walsh; S Jain; Eugene S Paykel
Genetic association between monoamine oxidase A microsatellite and RFLP alleles and bipolar affective disorder: analysis and meta-analysis.
Human molecular genetics 1996;5(6):779-82.
1996: Russell L Margolis; O Colin Stine; Melvin G McInnis; NG Ranen; David C Rubinsztein; J Leggo; LORRAINE BRANDO; A S Kidwai; S J Loev; TS Breschel; Colleen Callahan; Sylvia G Simpson; J. Raymond DePaulo; Francis McMajon; S Jain; Eugene S Paykel; C Walsh; Lynn E DeLisi; T J Crow; E F Torrey; R G Ashworth; Jennifer P Macke; Jeremy Nathans; Christopher A Ross
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.
Human molecular genetics 1996;5(5):607-16.
1996: S Jain; J Leggo; Lynn E DeLisi; T J Crow; Russell L Margolis; S H Li; S Goodburn; C Walsh; Eugene S Paykel; Malcolm A Ferguson-Smith; Christopher A Ross; David C Rubinsztein
Analysis of thirteen trinucleotide repeat loci as candidate genes for schizophrenia and bipolar affective disorder.
American journal of medical genetics 1996;67(2):139-46.
1995: David C Rubinsztein; J Leggo; W Amos
Microsatellites evolve more rapidly in humans than in chimpanzees.
Genomics 1995;30(3):610-12.
1995: K Andrews; J Wienberg; Malcolm A Ferguson-Smith; David C Rubinsztein
Enrichment of fetal nucleated cells from maternal blood: model test system using cord blood.
Prenatal diagnosis 1995;15(10):913-9.
1995: David C Rubinsztein; J Leggo; Gerhard A Coetzee; Ryan A Irvine; M Buckley; Malcolm A Ferguson-Smith
Sequence variation and size ranges of CAG repeats in the Machado-Joseph disease, spinocerebellar ataxia type 1 and androgen receptor genes.
Human molecular genetics 1995;4(9):1585-90.
1995: David C Rubinsztein; W Amos; J Leggo; S Goodburn; S Jain; S H Li; Russell L Margolis; Christopher A Ross; Malcolm A Ferguson-Smith
Microsatellite evolution--evidence for directionality and variation in rate between species.
Nature genetics 1995;10(3):337-43.
1995: David C Rubinsztein; G A Coetzee; Deneys R van der Westhuyzen; E Langenhoven; Maritha J Kotze
Familial defective apolipoprotein-B is rare in hypercholesterolaemic South African Afrikaners, coloureds and Indians.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 1995;85(5):355-7.
1995: David C Rubinsztein; J Leggo; S Goodburn; David Barton; Malcolm A Ferguson-Smith
Normal CAG and CCG repeats in the Huntington's disease genes of Parkinson's disease patients.
American journal of medical genetics 1995;60(2):109-10.
1995: David C Rubinsztein
Apolipoprotein E: a review of its roles in lipoprotein metabolism, neuronal growth and repair and as a risk factor for Alzheimer's disease.
Psychological medicine 1995;25(2):223-9.
1995: David C Rubinsztein; J Leggo; S Goodburn; David Barton; Malcolm A Ferguson-Smith
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.
Human molecular genetics 1995;4(2):203-6.
1995: C S Hanlon; David C Rubinsztein
Arginine residues at codons 112 and 158 in the apolipoprotein E gene correspond to the ancestral state in humans.
Atherosclerosis 1995;112(1):85-90.
1994: David C Rubinsztein; C S Hanlon; R M Irving; S Goodburn; D G Evans; H Kellar-Wood; John H Xuereb; O Bandmann; A E Harding
Apo E genotypes in multiple sclerosis, Parkinson's disease, schwannomas and late-onset Alzheimer's disease.
Molecular and cellular probes 1994;8(6):519-25.
1994: David C Rubinsztein; J Leggo; W Amos; David Barton; Malcolm A Ferguson-Smith
Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations.
Human molecular genetics 1994;3(11):2031-5.
1994: David C Rubinsztein; J Leggo; S Goodburn; T J Crow; R Lofthouse; Lynn E DeLisi; David Barton; Malcolm A Ferguson-Smith
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.
Journal of medical genetics 1994;31(9):690-3.
1994: David C Rubinsztein; W Amos; J Leggo; S Goodburn; Rajkumar Ramesar; J Old; R Bontrop; R McMahon; David Barton; Malcolm A Ferguson-Smith
Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence.
Nature genetics 1994;7(4):525-30.
1994: David C Rubinsztein; J Leggo; S Goodburn; David Barton; Malcolm A Ferguson-Smith; Christopher A Ross; S H Li; R Lofthouse; T J Crow; Lynn E DeLisi
B37 repeats are normal in most schizophrenic patients.
The British journal of psychiatry : the journal of mental science 1994;164(6):851-2.
1994: David C Rubinsztein; Deneys R van der Westhuyzen; G A Coetzee
Monogenic primary hypercholesterolaemia in South Africa.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 1994;84(6):339-44.
1994: David C Rubinsztein; David Barton; Malcolm A Ferguson-Smith
Issues in Huntington's disease testing.
The Quarterly journal of medicine 1994;87(2):71-3.
1994: M A Aldred; Tracey J Flint; R Vossen; K Wakefield; Malcolm A Ferguson-Smith; M Lush; David C Rubinsztein; T Kruse; A Loizedda; B Bakker
The EUROGEM map of human chromosome X.
European journal of human genetics : EJHG 1994;2(3):248-9.
1994: Manuela Kapsetaki; Maria Kokkinaki; D Angelicheva; B Lubyova; H Mavraki; A Argyrokastritis; Gilles Vergnaud; Malcolm A Ferguson-Smith; David C Rubinsztein; M Lush
The EUROGEM map of human chromosome 10.
European journal of human genetics : EJHG 1994;2(3):222-3.
1994: J Attwood; Gilles Vergnaud; M L Lush; David C Rubinsztein; D Goudie; Malcolm A Ferguson-Smith; Sue Povey
The EUROGEM map of human chromosome 9.
European journal of human genetics : EJHG 1994;2(3):220-1.
1993: David C Rubinsztein; J Leggo; David Barton; M A Ferguson-Smith
Site of (CCG) polymorphism in the HD gene.
Nature genetics 1993;5(3):214-5.
1993: David C Rubinsztein; David Barton; B C Davison; Malcolm A Ferguson-Smith
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.
Human molecular genetics 1993;2(10):1713-5.
1993: David C Rubinsztein; Ishwarlal Jialal; E Leitersdorf; G A Coetzee; Deneys R van der Westhuyzen
Identification of two new LDL-receptor mutations causing homozygous familial hypercholesterolemia in a South African of Indian origin.
Biochimica et biophysica acta 1993;1182(1):75-82.
1993: David C Rubinsztein; Frederick J Raal; H C Seftel; GJ Pilcher; G A Coetzee; Deneys R van der Westhuyzen
Characterization of six patients who are double heterozygotes for familial hypercholesterolemia and familial defective apo B-100.
Arteriosclerosis and thrombosis : a journal of vascular biology / American Heart Association 1993;13(7):1076-81.
1992: David C Rubinsztein; G A Coetzee; Adrian David Marais; E Leitersdorf; H C Seftel; Deneys R van der Westhuyzen
Identification and properties of the proline664-leucine mutant LDL receptor in South Africans of Indian origin.
Journal of lipid research 1992;33(11):1647-55.
1990: David C Rubinsztein; J C Cohen; G M Berger; Deneys R van der Westhuyzen; G A Coetzee; W Gevers
Chylomicron remnant clearance from the plasma is normal in familial hypercholesterolemic homozygotes with defined receptor defects.
The Journal of clinical investigation 1990;86(4):1306-12.