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David Rubinsztein

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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TOP 3
Sims R; Hollingworth P; Moskvina V; Dowzell K; O'Donovan M C; Powell J; Lovestone S; Brayne C; Rubinsztein D; Owen M J; Williams J; Abraham R
Evidence that variation in the oligodendrocyte lineage transcription factor 2 (OLIG2) gene is associated with psychosis in Alzheimer's disease.
Jahreiss Luca; Renna Maurizio; Bittman Robert; Arthur Gilbert; Rubinsztein David C
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.
Korolchuk Viktor I; Menzies Fiona M; Rubinsztein David C
A novel link between autophagy and the ubiquitin-proteasome system.

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All Publications

2009: Sims R; Hollingworth P; Moskvina V; Dowzell K; O'Donovan M C; Powell J; Lovestone S; Brayne C; Rubinsztein D; Owen M J; Williams J; Abraham R
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: Jahreiss Luca; Renna Maurizio; Bittman Robert; Arthur Gilbert; Rubinsztein David C
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: Korolchuk Viktor I; Menzies Fiona M; Rubinsztein David C
A novel link between autophagy and the ubiquitin-proteasome system.
Autophagy 2009;5(6):862-3.
2009: Futter M; Diekmann H; Schoenmakers E; Sadiq O; Chatterjee K; Rubinsztein D C
Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors.
Journal of medical genetics 2009;46(7):438-46.
2009: Rubinsztein David C; Cuervo Ana Maria; Ravikumar Brinda; Sarkar Sovan; Korolchuk Viktor; Kaushik Susmita; Klionsky Daniel J
In search of an "autophagomometer".
Autophagy 2009;5(5):585-9.
2009: Ravikumar Brinda; Futter Marie; Jahreiss Luca; Korolchuk Viktor I; Lichtenberg Maike; Luo Shouqing; Massey Dunecan C O; Menzies Fiona M; Narayanan Usha; Renna Maurizio; Jimenez-Sanchez Maria; Sarkar Sovan; Underwood Benjamin; Winslow Ashley; Rubinsztein David C
Mammalian macroautophagy at a glance.
Journal of cell science 2009;122(Pt 11):1707-11.
2009: Sarkar Sovan; Korolchuk Viktor; Renna Maurizio; Winslow Ashley; Rubinsztein David C
Methodological considerations for assessing autophagy modulators: a study with calcium phosphate precipitates.
Autophagy 2009;5(3):307-13.
2009: Luo Shouqing; Rubinsztein David C
Huntingtin promotes cell survival by preventing Pak2 cleavage.
Journal of cell science 2009;122(Pt 6):875-85.
2009: Korolchuk Viktor I; Mansilla Alicia; Menzies Fiona M; Rubinsztein David C
Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates.
Molecular cell 2009;33(4):517-27.
2009: Diekmann Heike; Anichtchik Oleg; Fleming Angeleen; Futter Marie; Goldsmith Paul; Roach Alan; Rubinsztein David C
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: Morgan A R; Hollingworth P; Abraham R; Lovestone S; Brayne C; Rubinsztein D C; Lynch A; Lawlor B; Gill M; O'Donovan M C; Owen M J; Williams J
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: Sarkar Sovan; Ravikumar Brinda; Rubinsztein David C
Autophagic clearance of aggregate-prone proteins associated with neurodegeneration.
Methods in enzymology 2009;453():83-110.
2008: Winslow Ashley R; Rubinsztein David C
Autophagy in neurodegeneration and development.
Biochimica et biophysica acta 2008;1782(12):723-9.
2008: Klionsky Daniel J; Elazar Zvulun; Seglen Per O; Rubinsztein David C
Does bafilomycin A1 block the fusion of autophagosomes with lysosomes?
Autophagy 2008;4(7):849-950.
2008: Sarkar Sovan; Rubinsztein David C
Small molecule enhancers of autophagy for neurodegenerative diseases.
Molecular bioSystems 2008;4(9):895-901.
2008: Rubinsztein David C
Functional genomics approaches to neurodegenerative diseases.
Mammalian genome : official journal of the International Mammalian Genome Society 2008;19(9):587-90.
2008: Sarkar Sovan; Rubinsztein David C
Huntington's disease: degradation of mutant huntingtin by autophagy.
The FEBS journal 2008;275(17):4263-70.
2008: Morgan A R; Hamilton G; Turic D; Jehu L; Harold D; Abraham R; Hollingworth P; Moskvina V; Brayne C; Rubinsztein D C; Lynch A; Lawlor B; Gill M; O'Donovan M; Powell J; Lovestone S; Williams J; Owen M J
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: Anichtchik Oleg; Diekmann Heike; Fleming Angeleen; Roach Alan; Goldsmith Paul; Rubinsztein David C
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: Imarisio Sara; Carmichael Jenny; Korolchuk Viktor; Chen Chien-Wen; Saiki Shinji; Rose Claudia; Krishna Gauri; Davies Janet E; Ttofi Evangelia; Underwood Benjamin R; Rubinsztein David C
Huntington's disease: from pathology and genetics to potential therapies.
The Biochemical journal 2008;412(2):191-209.
2008: Ravikumar Brinda; Imarisio Sara; Sarkar Sovan; O'Kane Cahir J; Rubinsztein David C
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: Williams Andrea; Sarkar Sovan; Cuddon Paul; Ttofi Evangelia K; Saiki Shinji; Siddiqi Farah H; Jahreiss Luca; Fleming Angeleen; Pask Dean; Goldsmith Paul; O'Kane Cahir J; Floto Rodrigo Andres; Rubinsztein David C
Novel targets for Huntington's disease in an mTOR-independent autophagy pathway.
Nature chemical biology 2008;4(5):295-305.
2008: Jahreiss Luca; Menzies Fiona M; Rubinsztein David C
The itinerary of autophagosomes: from peripheral formation to kiss-and-run fusion with lysosomes.
Traffic (Copenhagen, Denmark) 2008;9(4):574-87.
2008: Davies Janet E; Sarkar Sovan; Rubinsztein David C
Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.
Human molecular genetics 2008;17(8):1097-108.
2008: Luo Shouqing; Mizuta Haruo; Rubinsztein David C
p21-activated kinase 1 promotes soluble mutant huntingtin self-interaction and enhances toxicity.
Human molecular genetics 2008;17(6):895-905.
2008: Li Yonghong; Grupe Andrew; Rowland Charles; Holmans Peter; Segurado Ricardo; Abraham Richard; Jones Lesley; Catanese Joseph; Ross David; Mayo Kevin; Martinez Maribel; Hollingworth Paul; Goate Alison; Cairns Nigel J; Racette Brad A; Perlmutter Joel S; O'Donovan Michael C; Morris John C; Brayne Carol; Rubinsztein David C; Lovestone Simon; Thal Leon J; Owen Michael J; Williams Julie
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: Settembre Carmine; Fraldi Alessandro; Rubinsztein David C; Ballabio Andrea
Lysosomal storage diseases as disorders of autophagy.
Autophagy 2008;4(1):113-4.
2008: Sarkar Sovan; Krishna Gauri; Imarisio Sara; Saiki Shinji; O'Kane Cahir J; Rubinsztein David C
A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin.
Human molecular genetics 2008;17(2):170-8.
2008: Settembre Carmine; Fraldi Alessandro; Jahreiss Luca; Spampanato Carmine; Venturi Consuelo; Medina Diego; de Pablo Raquel; Tacchetti Carlo; Rubinsztein David C; Ballabio Andrea
A block of autophagy in lysosomal storage disorders.
Human molecular genetics 2008;17(1):119-29.
2008: Ravikumar Brinda; Sarkar Sovan; Rubinsztein David C
Clearance of mutant aggregate-prone proteins by autophagy.
Methods in molecular biology (Clifton, N.J.) 2008;445():195-211.
2008: Underwood Benjamin R; Rubinsztein David C
Spinocerebellar ataxias caused by polyglutamine expansions: a review of therapeutic strategies.
Cerebellum (London, England) 2008;7(2):215-21.
2007: Chakrabortee Sohini; Boschetti Chiara; Walton Laura J; Sarkar Sovan; Rubinsztein David C; Tunnacliffe Alan
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: Floto R Andres; Sarkar Sovan; Perlstein Ethan O; Kampmann Beate; Schreiber Stuart L; Rubinsztein David C
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: Morgan A R; Turic D; Jehu L; Hamilton G; Hollingworth P; Moskvina V; Jones L; Lovestone S; Brayne C; Rubinsztein D C; Lawlor B; Gill M; O'Donovan M C; Owen M J; Williams J
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 S; Rubinsztein D C
Atg5 and Bcl-2 provide novel insights into the interplay between apoptosis and autophagy.
Cell death and differentiation 2007;14(7):1247-50.
2007: Rubinsztein David C
Autophagy induction rescues toxicity mediated by proteasome inhibition.
Neuron 2007;54(6):854-6.
2007: Sarkar Sovan; Perlstein Ethan O; Imarisio Sara; Pineau Sandra; Cordenier Axelle; Maglathlin Rebecca L; Webster John A; Lewis Timothy A; O'Kane Cahir J; Schreiber Stuart L; Rubinsztein David C
Small molecules enhance autophagy and reduce toxicity in Huntington's disease models.
Nature chemical biology 2007;3(6):331-8.
2007: Harold D; Jehu L; Turic D; Hollingworth P; Moore P; Summerhayes P; Moskvina V; Foy C; Archer N; Hamilton B A; Lovestone S; Powell J; Brayne C; Rubinsztein D C; Jones L; O'Donovan M C; Owen M J; Williams J
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: Rubinsztein David C; Gestwicki Jason E; Murphy Leon O; Klionsky Daniel J
Potential therapeutic applications of autophagy.
Nature reviews. Drug discovery 2007;6(4):304-12.
2007: Grupe Andrew; Abraham Richard; Li Yonghong; Rowland Charles; Hollingworth Paul; Morgan Angharad; Jehu Luke; Segurado Ricardo; Stone David; Schadt Eric; Karnoub Maha; Nowotny Petra; Tacey Kristina; Catanese Joseph; Sninsky John; Brayne Carol; Rubinsztein David; Gill Michael; Lawlor Brian; Lovestone Simon; Holmans Peter; O'Donovan Michael; Morris John C; Thal Leon; Goate Alison; Owen Michael J; Williams Julie
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: Neville Matt J; Clarke Robert; Evans John Grimley; Rubinsztein David C; Karpe Fredrik
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: Sarkar Sovan; Davies Janet E; Huang Zebo; Tunnacliffe Alan; Rubinsztein David C
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: Yang Hui; Zhong Xiaoyan; Ballar Petek; Luo Shouqing; Shen Yuxian; Rubinsztein David C; Monteiro Mervyn J; Fang Shengyun
Ubiquitin ligase Hrd1 enhances the degradation and suppresses the toxicity of polyglutamine-expanded huntingtin.
Experimental cell research 2007;313(3):538-50.
2007: Davies Janet E; Sarkar Sovan; Rubinsztein David C
The ubiquitin proteasome system in Huntington's disease and the spinocerebellar ataxias.
BMC biochemistry 2007;8 Suppl 1():S2.
2006: Rubinsztein David C
The roles of intracellular protein-degradation pathways in neurodegeneration.
Nature 2006;443(7113):780-6.
2006: Ravikumar Brinda; Rubinsztein David C
Role of autophagy in the clearance of mutant huntingtin: a step towards therapy?
Molecular aspects of medicine 2006;27(5-6):520-7.
2006: Roiser Jonathan P; Blackwell Andrew D; Cools Roshan; Clark Luke; Rubinsztein David C; Robbins Trevor W; Sahakian Barbara J
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: Hollingworth Paul; Hamshere Marian L; Moskvina Valentina; Dowzell Kimberley; Moore Pamela J; Foy Catherine; Archer Nicola; Lynch Aoibhinn; Lovestone Simon; Brayne Carol; Rubinsztein David C; Lawlor Brian; Gill Mike; Owen Michael J; Williams Julie
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: Li Yonghong; Grupe Andrew; Rowland Charles; Nowotny Petra; Kauwe John S K; Smemo Scott; Hinrichs Anthony; Tacey Kristina; Toombs Timothy A; Kwok Shirley; Catanese Joseph; White Thomas J; Maxwell Taylor J; Hollingworth Paul; Abraham Richard; Rubinsztein David C; Brayne Carol; Wavrant-De Vrièze Fabienne; Hardy John; O'Donovan Michael; Lovestone Simon; Morris John C; Thal Leon J; Owen Michael; Williams Julie; Goate Alison
DAPK1 variants are associated with Alzheimer's disease and allele-specific expression.
Human molecular genetics 2006;15(17):2560-8.
2006: Menzies Fiona M; Ravikumar Brinda; Rubinsztein David C
Protective roles for induction of autophagy in multiple proteinopathies.
Autophagy 2006;2(3):224-5.
2006: Yanai Anat; Huang Kun; Kang Rujun; Singaraja Roshni R; Arstikaitis Pamela; Gan Lu; Orban Paul C; Mullard Asher; Cowan Catherine M; Raymond Lynn A; Drisdel Renaldo C; Green William N; Ravikumar Brinda; Rubinsztein David C; El-Husseini Alaa; Hayden Michael R
Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function.
Nature neuroscience 2006;9(6):824-31.
2006: Rubinsztein David C; Huntington James A
Paradoxical aggregation versus oligomerisation properties of mutant and wild-type huntingtin fragments.
Experimental neurology 2006;199(2):243-4.
2006: Li Wei; Serpell Louise C; Carter Wendy J; Rubinsztein David C; Huntington James A
Expression and characterization of full-length human huntingtin, an elongated HEAT repeat protein.
The Journal of biological chemistry 2006;281(23):15916-22.
2006: Sarkar Sovan; Rubinsztein David C
Inositol and IP3 levels regulate autophagy: biology and therapeutic speculations.
Autophagy 2006;2(2):132-4.
2006: Ravikumar Brinda; Berger Zdenek; Vacher Coralie; O'Kane Cahir J; Rubinsztein David C
Rapamycin pre-treatment protects against apoptosis.
Human molecular genetics 2006;15(7):1209-16.
2006: Underwood Benjamin R; Broadhurst David; Dunn Warwick B; Ellis David I; Michell Andrew W; Vacher Coralie; Mosedale David E; Kell Douglas B; Barker Roger A; Grainger David J; Rubinsztein David C
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: Ciarmiello Andrea; Cannella Milena; Lastoria Secondo; Simonelli Maria; Frati Luigi; Rubinsztein David C; Squitieri Ferdinando
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: Berger Zdenek; Davies Janet E; Luo Shouqing; Pasco Matthieu Y; Majoul Irina; O'Kane Cahir J; Rubinsztein David C
Deleterious and protective properties of an aggregate-prone protein with a polyalanine expansion.
Human molecular genetics 2006;15(3):453-65.
2006: Berger Zdenek; Ravikumar Brinda; Menzies Fiona M; Oroz Lourdes Garcia; Underwood Benjamin R; Pangalos Menelas N; Schmitt Ina; Wullner Ullrich; Evert Bernd O; O'Kane Cahir J; Rubinsztein David C
Rapamycin alleviates toxicity of different aggregate-prone proteins.
Human molecular genetics 2006;15(3):433-42.
2006: Davies Janet E; Sarkar Sovan; Rubinsztein David C
Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy.
Human molecular genetics 2006;15(1):23-31.
2006: Williams Andrea; Jahreiss Luca; Sarkar Sovan; Saiki Shinji; Menzies Fiona M; Ravikumar Brinda; Rubinsztein David C
Aggregate-prone proteins are cleared from the cytosol by autophagy: therapeutic implications.
Current topics in developmental biology 2006;76():89-101.
2006: Rubinsztein David C
Protein-protein interaction networks in the spinocerebellar ataxias.
Genome biology 2006;7(8):229.
2006: Davies Janet E; Berger Zdenek; Rubinsztein David C
Oculopharyngeal muscular dystrophy: potential therapies for an aggregate-associated disorder.
The international journal of biochemistry & cell biology 2006;38(9):1457-62.
2005: Cong Shu-Yan; Pepers Barry A; Evert Bernd O; Rubinsztein David C; Roos Raymund A C; van Ommen Gert-Jan B; Dorsman Josephine C
Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.
Molecular and cellular neurosciences 2005;30(4):560-71.
2005: Vacher Coralie; Garcia-Oroz Lourdes; Rubinsztein David C
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: Clark L; Roiser J P; Cools R; Rubinsztein D C; Sahakian B J; Robbins T W
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: Rubinsztein David C; Ravikumar Brinda; Acevedo-Arozena Abraham; Imarisio Sara; O'Kane Cahir J; Brown Steve D M
Dyneins, autophagy, aggregation and neurodegeneration.
Autophagy 2005;1(3):177-8.
2005: Berger Zdenek; Ttofi Evangelia K; Michel Claire H; Pasco Matthieu Y; Tenant Sean; Rubinsztein David C; O'Kane Cahir J
Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway.
Human molecular genetics 2005;14(20):3003-11.
2005: Sarkar Sovan; Floto R Andres; Berger Zdenek; Imarisio Sara; Cordenier Axelle; Pasco Matthieu; Cook Lynnette J; Rubinsztein David C
Lithium induces autophagy by inhibiting inositol monophosphatase.
The Journal of cell biology 2005;170(7):1101-11.
2005: Cong Shu-Yan; Pepers Barry A; Evert Bernd O; Rubinsztein David C; Roos Raymund A C; van Ommen Gert-Jan B; Dorsman Josephine C
Mutant huntingtin represses CBP, but not p300, by binding and protein degradation.
Molecular and cellular neurosciences 2005;30(1):12-23.
2005: Ravikumar Brinda; Acevedo-Arozena Abraham; Imarisio Sara; Berger Zdenek; Vacher Coralie; O'Kane Cahir J; Brown Steve D M; Rubinsztein David C
Dynein mutations impair autophagic clearance of aggregate-prone proteins.
Nature genetics 2005;37(7):771-6.
2005: Davies Janet E; Wang Lin; Garcia-Oroz Lourdes; Cook Lynnette J; Vacher Coralie; O'Donovan Dominic G; Rubinsztein David C
Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice.
Nature medicine 2005;11(6):672-7.
2005: Luo Shouqing; Vacher Coralie; Davies Janet E; Rubinsztein David C
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: Rubinsztein David C; DiFiglia Marian; Heintz Nathaniel; Nixon Ralph A; Qin Zheng-Hong; Ravikumar Brinda; Stefanis Leonidas; Tolkovsky Aviva
Autophagy and its possible roles in nervous system diseases, damage and repair.
Autophagy 2005;1(1):11-22.
2005: Roiser Jonathan P; Cook Lynnette J; Cooper Jason D; Rubinsztein David C; Sahakian Barbara J
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: Jamieson Sarra E; White Jacqueline K; Howson Joanna M M; Pask Rebecca; Smith Anne N; Brayne Carol; Evans John Grimley; Xuereb John; Cairns Nigel J; Rubinsztein David C; Blackwell Jenefer M
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: Cook Lynnette J; Ho Luk W; Wang Lin; Terrenoire Edith; Brayne Carol; Evans John Grimley; Xuereb John; Cairns Nigel J; Turic Dragana; Hollingworth Paul; Moore Pamela J; Jehu Luke; Archer Nicola; Walter Sarah; Foy Catherine; Edmondson Amanda; Powell John; Lovestone Simon; Williams Julie; Rubinsztein David C
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: Webb Julie L; Ravikumar Brinda; Rubinsztein David C
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: Ferrante Robert J; Ryu Hoon; Kubilus James K; D'Mello Santosh; Sugars Katharine L; Lee Junghee; Lu Peiyuan; Smith Karen; Browne Susan; Beal M Flint; Kristal Bruce S; Stavrovskaya Irina G; Hewett Sandra; Rubinsztein David C; Langley Brett; Ratan Rajiv R
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: Ravikumar Brinda; Rubinsztein David C
Can autophagy protect against neurodegeneration caused by aggregate-prone proteins?
Neuroreport 2004;15(16):2443-5.
2004: Ravikumar Brinda; Vacher Coralie; Berger Zdenek; Davies Janet E; Luo Shouqing; Oroz Lourdes G; Scaravilli Francesco; Easton Douglas F; Duden Rainer; O'Kane Cahir J; Rubinsztein David C
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: Cook Lynnette J; Ho Luk W; Taylor Alison E; Brayne Carol; Evans John Grimley; Xuereb John; Cairns Nigel J; Pritchard Antonia; Lemmon Helen; Mann David; St Clair David; Turic Dragana; Hollingworth Paul; Moore Pamela J; Jehu Luke; Archer Nicola; Walter Sarah; Foy Catherine; Edmondson Amanda; Powell John; Lovestone Simon; Owen Michael J; Williams Julie; Lendon Corinne; Rubinsztein David C
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: Sugars Katharine L; Brown Rosemary; Cook Lynnette J; Swartz Jina; Rubinsztein David C
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: Bao Y P; Sarkar S; Uyama E; Rubinsztein D C
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: Rubinsztein David C
How does the Huntington's disease mutation damage cells?
Science of aging knowledge environment : SAGE KE 2003;2003(37):PE26.
2003: Yip A G; Dürr A; Marchuk D A; Ashley-Koch A; Hentati A; Rubinsztein D C; Reid E
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: Rubinsztein David C; Carmichael Jenny
Huntington's disease: molecular basis of neurodegeneration.
Expert reviews in molecular medicine 2003;5(20):1-21.
2003: Webb Julie L; Ravikumar Brinda; Atkins Jane; Skepper Jeremy N; Rubinsztein David C
Alpha-Synuclein is degraded by both autophagy and the proteasome.
The Journal of biological chemistry 2003;278(27):25009-13.
2003: Sugars Katharine L; Rubinsztein David C
Transcriptional abnormalities in Huntington disease.
Trends in genetics : TIG 2003;19(5):233-8.
2003: Ravikumar Brinda; Stewart Abigail; Kita Hiroko; Kato Kikuya; Duden Rainer; Rubinsztein David C
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: Squitieri Ferdinando; Gellera Cinzia; Cannella Milena; Mariotti Caterina; Cislaghi Giuliana; Rubinsztein David C; Almqvist Elisabeth W; Turner David; Bachoud-Lévi Anne-Catherine; Simpson Sheila A; Delatycki Martin; Maglione Vittorio; Hayden Michael R; Donato Stefano Di
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: Rubinsztein David C
How useful are animal models of human disease?
Seminars in cell & developmental biology 2003;14(1):1-2.
2002: Cook Lynnette; Brayne Carol E; Easton Douglas; Evans John Grimley; Xuereb John; Cairns Nigel J; Rubinsztein David C
No evidence for an association between Saitohin Q7R polymorphism and Alzheimer's disease.
Annals of neurology 2002;52(5):690-1.
2002: Reid Evan; Kloos Mark; Ashley-Koch Allison; Hughes Lori; Bevan Simon; Svenson Ingrid K; Graham Felicia Lennon; Gaskell Perry C; Dearlove Andrew; Pericak-Vance Margaret A; Rubinsztein David C; Marchuk Douglas A
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).
American journal of human genetics 2002;71(5):1189-94.
2002: Carmichael Jenny; Vacher Coralie; Rubinsztein David C
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: Kita Hiroko; Carmichael Jenny; Swartz Jina; Muro Shizuko; Wyttenbach Andreas; Matsubara Kenichi; Rubinsztein David C; Kato Kikuya
Modulation of polyglutamine-induced cell death by genes identified by expression profiling.
Human molecular genetics 2002;11(19):2279-87.
2002: Carmichael Jenny; Sugars Katherine L; Bao Yi Ping; Rubinsztein David C
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: Wyttenbach Andreas; Sauvageot Olivier; Carmichael Jenny; Diaz-Latoud Chantal; Arrigo Andre-Patrik; Rubinsztein David C
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: Ravikumar Brinda; Duden Rainer; Rubinsztein David C
Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy.
Human molecular genetics 2002;11(9):1107-17.
2002: Rubinsztein David C
Lessons from animal models of Huntington's disease.
Trends in genetics : TIG 2002;18(4):202-9.
2002: Bao Yi Ping; Cook Lynnette J; O'Donovan Dominic; Uyama Eiichiro; Rubinsztein David C
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.
2001: Taylor A; Ezquerra M; Bagri G; Yip A; Goumidi L; Cottel D; Easton D; Evans J G; Xuereb J; Cairns N J; Amouyel P; Chartier-Harlin M C; Brayne C; Rubinsztein D C
Alzheimer disease is not associated with polymorphisms in the angiotensinogen and renin genes.
American journal of medical genetics 2001;105(8):761-4.
2001: Wyttenbach A; Swartz J; Kita H; Thykjaer T; Carmichael J; Bradley J; Brown R; Maxwell M; Schapira A; Orntoft T F; Kato K; Rubinsztein D C
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: Berrios G E; Wagle A C; Marková I S; Wagle S A; Ho L W; Rubinsztein D C; Whittaker J; Ffrench-Constant C; Kershaw A; Rosser A; Bak T; Hodges J R
Psychiatric symptoms and CAG repeats in neurologically asymptomatic Huntington's disease gene carriers.
Psychiatry research 2001;102(3):217-25.
2001: Ho L W; Brown R; Maxwell M; Wyttenbach A; Rubinsztein D C
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: Taylor A E; Yip A; Brayne C; Easton D; Evans J G; Xuereb J; Cairns N; Esiri M M; Rubinsztein D C
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: Murphy T; Yip A; Brayne C; Easton D; Evans J G; Xuereb J; Cairns N; Esiri M M; Rubinsztein D C
The BACE gene: genomic structure and candidate gene study in late-onset Alzheimer's disease.
Neuroreport 2001;12(3):631-4.
2001: Reid E; Escayg A; Dearlove A M; Meisler M H; Rubinsztein D C
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: Ho L W; Carmichael J; Swartz J; Wyttenbach A; Rankin J; Rubinsztein D C
The molecular biology of Huntington's disease.
Psychological medicine 2001;31(1):3-14.
2000: Furlong R A; Keramatipour M; Ho L W; Rubinsztein J S; Michael A; Walsh C; Paykel E S; Rubinsztein D C
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: Singleton A B; Hall R; Ballard C G; Perry R H; Xuereb J H; Rubinsztein D C; Tysoe C; Matthews P; Cordell B; Kumar-Singh S; De Jonghe C; Cruts M; van Broeckhoven C; Morris C M
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: Coles R; Birdsall M; Wyttenbach A; Rubinsztein D C
12-O-tetradecanoyl-phorbol-13-acetate down-regulates the Huntingtin promoter at Sp1 sites.
Neuroreport 2000;11(14):3157-61.
2000: Narain Y; Yip A; Murphy T; Brayne C; Easton D; Evans J G; Xuereb J; Cairns N; Esiri M M; Furlong R A; Rubinsztein D C
The ACE gene and Alzheimer's disease susceptibility.
Journal of medical genetics 2000;37(9):695-7.
2000: Carmichael J; Chatellier J; Woolfson A; Milstein C; Fersht A R; Rubinsztein D C
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: Keramatipour M; McConnell R S; Kirkpatrick P; Tebbs S; Furlong R A; Rubinsztein D C
The ACE I allele is associated with increased risk for ruptured intracranial aneurysms.
Journal of medical genetics 2000;37(7):498-500.
2000: Rankin J; Wyttenbach A; Rubinsztein D C
Intracellular green fluorescent protein-polyalanine aggregates are associated with cell death.
The Biochemical journal 2000;348 Pt 1():15-9.
2000: Wyttenbach A; Carmichael J; Swartz J; Furlong R A; Narain Y; Rankin J; Rubinsztein D C
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: Furlong R A; Narain Y; Rankin J; Wyttenbach A; Rubinsztein D C
alpha-synuclein overexpression promotes aggregation of mutant huntingtin.
The Biochemical journal 2000;346 Pt 3():577-81.
2000: Ho L W; Furlong R A; Rubinsztein J S; Walsh C; Paykel E S; Rubinsztein D C
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: Reid E; Dearlove A M; Osborn O; Rogers M T; Rubinsztein D C
A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.
American journal of human genetics 2000;66(2):728-32.
1999: Furlong R A; Ho L W; Rubinsztein J S; Michael A; Walsh C; Paykel E S; Rubinsztein D C
A rare coding variant within the wolframin gene in bipolar and unipolar affective disorder cases.
Neuroscience letters 1999;277(2):123-6.
1999: Reid E; Dearlove A M; Whiteford M L; Rhodes M; Rubinsztein D C
Autosomal dominant spastic paraplegia: refined SPG8 locus and additional genetic heterogeneity.
Neurology 1999;53(8):1844-9.
1999: Reid E; Grayson C; Rubinsztein D C; Rogers M T; Rubinsztein J S
Subclinical cognitive impairment in autosomal dominant "pure" hereditary spastic paraplegia.
Journal of medical genetics 1999;36(10):797-8.
1999: Narain Y; Wyttenbach A; Rankin J; Furlong R A; Rubinsztein D C
A molecular investigation of true dominance in Huntington's disease.
Journal of medical genetics 1999;36(10):739-46.
1999: Cooper G; Burroughs N J; Rand D A; Rubinsztein D C; Amos W
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: Cooper G; Amos W; Bellamy R; Siddiqui M R; Frodsham A; Hill A V; Rubinsztein D C
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: Reid E; Grayson C; Rogers M T; Rubinsztein D C
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: Reid E; Dearlove A M; Rhodes M; Rubinsztein D C
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: Kirk R; Furlong R A; Amos W; Cooper G; Rubinsztein J S; Walsh C; Paykel E S; Rubinsztein D C
Mitochondrial genetic analyses suggest selection against maternal lineages in bipolar affective disorder.
American journal of human genetics 1999;65(2):508-18.
1999: Furlong R A; Ho L; Rubinsztein J S; Walsh C; Paykel E S; Rubinsztein D C
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: Rubinsztein D C; Hon J; Stevens F; Pyrah I; Tysoe C; Huppert F A; Easton D F; Holland A J
Apo E genotypes and risk of dementia in Down syndrome.
American journal of medical genetics 1999;88(4):344-7.
1999: De Jonghe C; Cruts M; Rogaeva E A; Tysoe C; Singleton A; Vanderstichele H; Meschino W; Dermaut B; Vanderhoeven I; Backhovens H; Vanmechelen E; Morris C M; Hardy J; Rubinsztein D C; St George-Hyslop P H; Van Broeckhoven C
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: Rubinsztein D C; Amos B; Cooper G
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: Rubinsztein D C; Easton D F
Apolipoprotein E genetic variation and Alzheimer's disease. a meta-analysis.
Dementia and geriatric cognitive disorders 1999;10(3):199-209.
1999: Dow D J; Lindsey N; Cairns N J; Brayne C; Robinson D; Huppert F A; Paykel E S; Xuereb J; Wilcock G; Whittaker J L; Rubinsztein D C
Alpha-2 macroglobulin polymorphism and Alzheimer disease risk in the UK.
Nature genetics 1999;22(1):16-7; author reply 21-2.
1999: Rubinsztein D C; Wyttenbach A; Rankin J
Intracellular inclusions, pathological markers in diseases caused by expanded polyglutamine tracts?
Journal of medical genetics 1999;36(4):265-70.
1999: Furlong R A; Rubinsztein J S; Ho L; Walsh C; Coleman T A; Muir W J; Paykel E S; Blackwood D H; Rubinsztein D C
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: Furlong R A; Coleman T A; Ho L; Rubinsztein J S; Walsh C; Paykel E S; Rubinsztein D C
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: Cooper G; Rubinsztein D C; Amos W
Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues.
Human molecular genetics 1998;7(9):1425-9.
1998: Tysoe C; Galinsky D; Robinson D; Brayne C; Huppert F A; Dening T; Paykel E S; Easton D F; Rubinsztein D C
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: Lawrence A D; Hodges J R; Rosser A E; Kershaw A; ffrench-Constant C; Rubinsztein D C; Robbins T W; Sahakian B J
Evidence for specific cognitive deficits in preclinical Huntington's disease.
Brain : a journal of neurology 1998;121 ( Pt 7)():1329-41.
1998: Rosenblatt A; Ranen N G; Rubinsztein D C; Stine O C; Margolis R L; Wagster M V; Becher M W; Rosser A E; Leggo J; Hodges J R; ffrench-Constant C K; Sherr M; Franz M L; Abbott M H; Ross C A
Patients with features similar to Huntington's disease, without CAG expansion in huntingtin.
Neurology 1998;51(1):215-20.
1998: Furlong R A; Ho L; Rubinsztein J S; Walsh C; Paykel E S; Rubinsztein D C
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: Coles R; Caswell R; Rubinsztein D C
Functional analysis of the Huntington's disease (HD) gene promoter.
Human molecular genetics 1998;7(5):791-800.
1998: Rubinsztein J S; Rubinsztein D C; Goodburn S; Holland A J
Apathy and hypersomnia are common features of myotonic dystrophy.
Journal of neurology, neurosurgery, and psychiatry 1998;64(4):510-5.
1998: Furlong R A; Ho L; Walsh C; Rubinsztein J S; Jain S; Paykel E S; Easton D F; Rubinsztein D C
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: Tysoe C; Whittaker J; Xuereb J; Cairns N J; Cruts M; Van Broeckhoven C; Wilcock G; Rubinsztein D C
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: Leggo J; Dalton A; Morrison P J; Dodge A; Connarty M; Kotze M J; Rubinsztein D C
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: Dow D J; Rubinsztein D C; Yates J R; Barton D E; Ferguson-Smith M A
Instability of normal (CTG)n alleles in the DM kinase gene.
Journal of medical genetics 1997;34(10):871-3.
1997: Rubinsztein D C; Leggo J; Chiano M; Korn S; Dodge A; Norbury G; Rosser E; Craufurd D
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: Rubinsztein D C
The genetics of Alzheimer's disease.
Progress in neurobiology 1997;52(6):447-54.
1997: Becher M W; Rubinsztein D C; Leggo J; Wagster M V; Stine O C; Ranen N G; Franz M L; Abbott M H; Sherr M; MacMillan J C; Barron L; Porteous M; Harper P S; Ross C A
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: Coles R; Leggo J; Rubinsztein D C
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: Tysoe C; Galinsky D; Robinson D; Brayne C E; Easton D F; Huppert F A; Dening T; Paykel E S; Rubinsztein D C
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: Rubinsztein D C; Leggo J; Chiano M; Dodge A; Norbury G; Rosser E; Craufurd D
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: Rubinsztein D C; Leggo J
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: Rubinsztein J S; Rubinsztein D C; McKenna P J; Goodburn S; Holland A J
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: Galinsky D; Tysoe C; Brayne C E; Easton D F; Huppert F A; Dening T R; Paykel E S; Rubinsztein D C
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: Tysoe C; Whittaker J; Cairns N J; Atkinson P F; Harrington C R; Xuereb J; Wilcock G; Rubinsztein D C
Presenilin-1 intron 8 polymorphism is not associated with autopsy-confirmed late-onset Alzheimer's disease.
Neuroscience letters 1997;222(1):68-9.
1996: Tysoe C; Robinson D; Brayne C; Dening T; Paykel E S; Huppert F A; Rubinsztein D C
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: Cooper G; Amos W; Hoffman D; Rubinsztein D C
Network analysis of human Y microsatellite haplotypes.
Human molecular genetics 1996;5(11):1759-66.
1996: Rubinsztein D C; Leggo J; Crow T J; DeLisi L E; Walsh C; Jain S; Paykel E S
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: Amos W; Sawcer S J; Feakes R W; Rubinsztein D C
Microsatellites show mutational bias and heterozygote instability.
Nature genetics 1996;13(4):390-1.
1996: Rubinsztein D C; Leggo J; Coles R; Almqvist E; Biancalana V; Cassiman J J; Chotai K; Connarty M; Crauford D; Curtis A; Curtis D; Davidson M J; Differ A M; Dode C; Dodge A; Frontali M; Ranen N G; Stine O C; Sherr M; Abbott M H; Franz M L; Graham C A; Harper P S; Hedreen J C; Hayden M R
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: Rubinsztein D C; Leggo J; Goodburn S; Walsh C; Jain S; Paykel E S
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: Margolis R L; Stine O C; McInnis M G; Ranen N G; Rubinsztein D C; Leggo J; Brando L V; Kidwai A S; Loev S J; Breschel T S; Callahan C; Simpson S G; DePaulo J R; McMahon F J; Jain S; Paykel E S; Walsh C; DeLisi L E; Crow T J; Torrey E F; Ashworth R G; Macke J P; Nathans J; Ross C A
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: Jain S; Leggo J; DeLisi L E; Crow T J; Margolis R L; Li S H; Goodburn S; Walsh C; Paykel E S; Ferguson-Smith M A; Ross C A; Rubinsztein D C
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: Rubinsztein D C; Leggo J; Amos W
Microsatellites evolve more rapidly in humans than in chimpanzees.
Genomics 1995;30(3):610-12.
1995: Rubinsztein D C; Leggo J; Coetzee G A; Irvine R A; Buckley M; Ferguson-Smith M A
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: Rubinsztein D C; Amos W; Leggo J; Goodburn S; Jain S; Li S H; Margolis R L; Ross C A; Ferguson-Smith M A
Microsatellite evolution--evidence for directionality and variation in rate between species.
Nature genetics 1995;10(3):337-43.
1995: Rubinsztein D C; Leggo J; Goodburn S; Barton D E; Ferguson-Smith M A
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: Rubinsztein D C; Leggo J; Goodburn S; Barton D E; Ferguson-Smith M A
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: Hanlon C S; Rubinsztein D C
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: Rubinsztein D C; Hanlon C S; Irving R M; Goodburn S; Evans D G; Kellar-Wood H; Xuereb J H; Bandmann O; Harding A E
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: Rubinsztein D C; Leggo J; Amos W; Barton D E; Ferguson-Smith M A
Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations.
Human molecular genetics 1994;3(11):2031-5.
1994: Rubinsztein D C; Leggo J; Goodburn S; Crow T J; Lofthouse R; DeLisi L E; Barton D E; Ferguson-Smith M A
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: Rubinsztein D C; Amos W; Leggo J; Goodburn S; Ramesar R S; Old J; Bontrop R; McMahon R; Barton D E; Ferguson-Smith M A
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: Rubinsztein D C; Leggo J; Goodburn S; Barton D E; Ferguson-Smith M A; Ross C A; Li S H; Lofthouse R; Crow T J; DeLisi L E
B37 repeats are normal in most schizophrenic patients.
The British journal of psychiatry : the journal of mental science 1994;164(6):851-2.
1994: Rubinsztein D C; Barton D E; Ferguson-Smith M A
Issues in Huntington's disease testing.
The Quarterly journal of medicine 1994;87(2):71-3.
1993: Rubinsztein D C; Leggo J; Barton D E; Ferguson-Smith M A
Site of (CCG) polymorphism in the HD gene.
Nature genetics 1993;5(3):214-5.
1993: Rubinsztein D C; Barton D E; Davison B C; Ferguson-Smith M A
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.

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