Works by Rubinsztein, David C.

Results: 166

Absence of Relationship Between MTTP Haplotypes and Longevity.

Published in:

Journals of Gerontology Series A: Biological Sciences & Medical Sciences, 2007, v. 62, n. 2, p. 202, doi. 10.1093/gerona/62.2.202

By:

Neville, Matt J.;
Clarke, Robert;
Evans, John Grimley;
Rubinsztein, David C.;
Karpe, Fredrik

Publication type:

Article

Cystamine Suppresses Polyalanine Toxicity in a Mouse Model of Oculopharyngeal Muscular Dystrophy.

Published in:

Science Translational Medicine, 2010, v. 2, n. 34, p. 1, doi. 10.1126/scitranslmed.3000723

By:

Davies, Janet E.;
Rose, Claudia;
Sarkar, Sovan;
Rubinsztein, David C.

Publication type:

Article

VPS35 Parkinson mutation impairs autophagy via WASH.

Published in:

Cell Cycle, 2014, v. 13, n. 14, p. 2155, doi. 10.4161/cc.29734

By:

Zavodszky, Eszter;
Seaman, Matthew N. J.;
Rubinsztein, David C.

Publication type:

Article

Autophagy in childhood neurological disorders.

Published in:

2019

By:

Zhu, Ye;
Runwal, Gautam;
Obrocki, Pawel;
Rubinsztein, David C

Publication type:

journal article

Brain White-Matter Volume Loss and Glucose Hypometabolism Precede the Clinical Symptoms of Huntington's Disease.

Published in:

Journal of Nuclear Medicine, 2006, v. 47, n. 2, p. 215

By:

Ciarmiello, Andrea;
Cannella, Milena;
Lastoria, Secondo;
Simonelli, Maria;
Frati, Luigi;
Rubinsztein, David C.;
Squitieri, Ferdinando

Publication type:

Article

The roles of intracellular protein-degradation pathways in neurodegeneration.

Published in:

Nature, 2006, v. 443, n. 7113, p. 780, doi. 10.1038/nature05291

By:

Rubinsztein, David C.

Publication type:

Article

The complexity of biological control systems: An autophagy case study.

Published in:

BioEssays, 2022, v. 44, n. 3, p. 1, doi. 10.1002/bies.202100224

By:

Pavel, Mariana;
Tanasa, Radu;
Park, So Jung;
Rubinsztein, David C.

Publication type:

Article

The autophagy of stress granules.

Published in:

FEBS Letters, 2024, v. 598, n. 1, p. 59, doi. 10.1002/1873-3468.14787

By:

Ryan, Laura;
Rubinsztein, David C.

Publication type:

Article

Chemotherapy for the Brain: The Antitumor Antibiotic Mithramycin Prolongs Survival in a Mouse Model of Huntington's Disease.

Published in:

Journal of Neuroscience, 2004, v. 24, n. 46, p. 10335, doi. 10.1523/JNEUROSCI.2599-04.2004

By:

Ferrante, Robert J.;
Ryu, Hoon;
Kubilus, James K.;
Lee, Junghee;
Smith, Karen;
D'Mello, Santosh;
Sugars, Katharine L.;
Rubinsztein, David C.;
Lu, Peiyuan;
Langley, Brett;
Browne, Susan;
Beal, M. Flint;
Hewett, Sandra;
Kristal, Bruce S.;
Stavrovskaya, Irina G.;
Ratan, Rajiv R.

Publication type:

Article

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

Published in:

Nature Genetics, 2009, v. 41, n. 10, p. 1088, doi. 10.1038/ng.440

By:

Harold, Denise;
Abraham, Richard;
Hollingworth, Paul;
Sims, Rebecca;
Gerrish, Amy;
Hamshere, Marian L.;
Pahwa, Jaspreet Singh;
Moskvina, Valentina;
Dowzell, Kimberley;
Williams, Amy;
Jones, Nicola;
Thomas, Charlene;
Stretton, Alexandra;
Morgan, Angharad R.;
Lovestone, Simon;
Powell, John;
Proitsi, Petroula;
Lupton, Michelle K.;
Brayne, Carol;
Rubinsztein, David C.

Publication type:

Article

Erratum: Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

Published in:

2009

By:

Harold, Denise;
Abraham, Richard;
Hollingworth, Paul;
Sims, Rebecca;
Gerrish, Amy;
Hamshere, Marian L.;
Pahwa, Jaspreet Singh;
Moskvina, Valentina;
Dowzell, Kimberley;
Williams, Amy;
Jones, Nicola;
Thomas, Charlene;
Stretton, Alexandra;
Morgan, Angharad R.;
Lovestone, Simon;
Powell, John;
Proitsi, Petroula;
Lupton, Michelle K.;
Brayne, Carol;
Rubinsztein, David C.

Publication type:

Correction Notice

Dynein mutations impair autophagic clearance of aggregate-prone proteins.

Published in:

Nature Genetics, 2005, v. 37, n. 7, p. 771, doi. 10.1038/ng1591

By:

Ravikumar, Brinda;
Acevedo-Arozena, Abraham;
Imarisio, Sara;
Berger, Zdenek;
Vacher, Coralie;
O'Kane, Cahir J.;
Brown, Steve D. M.;
Rubinsztein, David C.

Publication type:

Article

Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease.

Published in:

Nature Genetics, 2004, v. 36, n. 6, p. 585, doi. 10.1038/ng1362

By:

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.

Publication type:

Article

α-2 macroglobulin polymorphism and Alzheimer disease risk in the UK.

Published in:

Nature Genetics, 1999, v. 22, n. 1, p. 16, doi. 10.1038/8724

By:

Dow, David J.;
Lindsey, Nicola;
Cairns, Nigel J.;
Brayne, Carol;
Robinson, Damian;
Huppert, Felicia A.;
Paykel, Eugene S.;
Xuereb, John;
Wilcock, Gordon;
Whittaker, Joanne L.;
Rubinsztein, David C.

Publication type:

Article

Huntington’s disease: degradation of mutant huntingtin by autophagy.

Published in:

FEBS Journal, 2008, v. 275, n. 17, p. 4263, doi. 10.1111/j.1742-4658.2008.06562.x

By:

Sarkar, Sovan;
Rubinsztein, David C.

Publication type:

Article

Deletion of the Huntingtin Polyglutamine Stretch Enhances Neuronal Autophagy and Longevity in Mice.

Published in:

PLoS Genetics, 2010, v. 6, n. 2, p. 1, doi. 10.1371/journal.pgen.1000838

By:

Shuqiu Zheng;
Clabough, Erin B. D.;
Sarkar, Sovan;
Futter, Marie;
Rubinsztein, David C.;
Zeitlin, Scott O.

Publication type:

Article

Autophagy and neurodegeneration.

Published in:

Journal of Clinical Investigation, 2015, v. 125, n. 1, p. 65, doi. 10.1172/JCI73944

By:

Frake, Rebecca A.;
Ricketts, Thomas;
Menzies, Fiona M.;
Rubinsztein, David C.

Publication type:

Article

Azithromycin blocks autophagy and may predispose cystic fibrosis patients to mycobacterial infection.

Published in:

2011

By:

Renna,1, Maurizio;
Schaffner,2, Catherine;
Brown, Karen;
Shang, Shaobin;
Tamayo, Marcela Henao;
Hegyi, Krisztina;
Grimsey, Neil J.;
Cusens, David;
Coulter, Sarah;
Cooper, Jason;
Bowden, Anne R.;
Newton, Sandra M.;
Kampmann, Beate;
Helm, Jennifer;
Jone, Andrew;
Haworth, Charles S.;
Basaraba, Randall J.;
DeGroote, Mary Ann;
Ordway, Diane J.;
Rubinsztein, David C.

Publication type:

journal article

PSMC5 insufficiency and P320R mutation impair proteasome function.

Published in:

Human Molecular Genetics, 2024, v. 33, n. 17, p. 1506, doi. 10.1093/hmg/ddae085

By:

Yu, Zhong-Qiu;
Carmichael, Jenny;
Collins, Galen A;
D'Agostino, Maria Daniela;
Lessard, Mathieu;
Firth, Helen V;
Harijan, Pooja;
Fry, Andrew E;
Dean, John;
Zhang, Jiuchun;
Kini, Usha;
Goldberg, Alfred L;
Rubinsztein, David C

Publication type:

Article

A New Zebrafish Model to Measure Neuronal α-Synuclein Clearance In Vivo.

Published in:

Genes, 2022, v. 13, n. 5, p. 868, doi. 10.3390/genes13050868

By:

Lopez, Ana;
Gorb, Alena;
Palha, Nuno;
Fleming, Angeleen;
Rubinsztein, David C.

Publication type:

Article

Huntingtin-lowering strategies for Huntington's disease.

Published in:

Expert Opinion on Investigational Drugs, 2020, v. 29, n. 10, p. 1125, doi. 10.1080/13543784.2020.1804552

By:

Barker, Roger A.;
Fujimaki, Motoki;
Rogers, Priya;
Rubinsztein, David C.

Publication type:

Article

Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.

Published in:

Nature Genetics, 2013, v. 45, n. 6, p. 712, doi. 10.1038/ng0613-712a

By:

Harold, Denise;
Abraham, Richard;
Hollingworth, Paul;
Sims, Rebecca;
Gerrish, Amy;
Hamshere, Marian L;
Pahwa, Jaspreet Singh;
Moskvina, Valentina;
Dowzell, Kimberley;
Williams, Amy;
Jones, Nicola;
Thomas, Charlene;
Stretton, Alexandra;
Morgan, Angharad R;
Lovestone, Simon;
Powell, John;
Proitsi, Petroula;
Lupton, Michelle K;
Brayne, Carol;
Rubinsztein, David C

Publication type:

Article

Autophagy regulation by acetylation—implications for neurodegenerative diseases.

Published in:

Experimental & Molecular Medicine EMM, 2021, p. 30, doi. 10.1038/s12276-021-00556-4

By:

Son, Sung Min;
Park, So Jung;
Fernandez-Estevez, Marian;
Rubinsztein, David C.

Publication type:

Article

Therapeutic induction of autophagy to modulate neurodegenerative disease progression.

Published in:

Acta Pharmacologica Sinica, 2013, v. 34, n. 5, p. 600, doi. 10.1038/aps.2012.189

By:

Hochfeld, Warren E;
Lee, Shirley;
Rubinsztein, David C

Publication type:

Article

Lithium induces autophagy by inhibiting inositol monophosphatase.

Published in:

Journal of Cell Biology, 2005, v. 170, n. 7, p. 1101, doi. 10.1083/jcb.200504035

By:

Sarkar, Sovan;
Floto, R. Andres;
Berger, Zdenek;
Imarisio, Sara;
Cordenier, Axelle;
Pasco, Matthieu;
Cook, Lynnette J.;
Rubinsztein, David C.

Publication type:

Article

Cdk5 phosphorylation of huntingtin reduces its cleavage caspases: implications for mutant huntingtin toxicity.

Published in:

Journal of Cell Biology, 2005, v. 169, n. 4, p. 647, doi. 10.1083/jcb.200412071

By:

Luo, Shouqing;
Vacher, Coralie;
Davies, Janet E.;
Rubinsztein, David C.

Publication type:

Article

A Sensitive and Versatile Cell‐Based Assay Combines Luminescence and Trapping Approaches to Monitor Unconventional Protein Secretion.

Published in:

Traffic, 2025, v. 26, n. 4-6, p. 1, doi. 10.1111/tra.70009

By:

Denus, Morgane;
Filaquier, Aurore;
Fargues, William;
Néel, Eloïse;
Stewart, Sarah E.;
Colladant, Maëlle;
Curel, Thomas;
Mezghrani, Alexandre;
Marin, Philippe;
Claeysen, Sylvie;
Rubinsztein, David C.;
Parmentier, Marie‐Laure;
Villeneuve, Julien

Publication type:

Article

The Itinerary of Autophagosomes: From Peripheral Formation to Kiss-and-Run Fusion with Lysosomes.

Published in:

Traffic, 2008, v. 9, n. 4, p. 574, doi. 10.1111/j.1600-0854.2008.00701.x

By:

Jahreiss, Luca;
Menzies, Fiona M.;
Rubinsztein, David C.

Publication type:

Article

Wild-type PABPN1 is anti-apoptotic and reduces toxicity of the oculopharyngeal muscular dystrophy mutation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 8, p. 1097, doi. 10.1093/hmg/ddm382

By:

Davies, Janet E.;
Sarkar, Sovan;
Rubinsztein, David C.

Publication type:

Article

p21-activated kinase 1 promotes soluble mutant huntingtin self-interaction and enhances toxicity.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 6, p. 895, doi. 10.1093/hmg/ddm362

By:

Luo, Shouqing;
Mizuta, Haruo;
Rubinsztein, David C.

Publication type:

Article

Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 5, p. 759, doi. 10.1093/hmg/ddm348

By:

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.

Publication type:

Article

A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 2, p. 170, doi. 10.1093/hmg/ddm294

By:

Sarkar, Sovan;
Krishna, Gauri;
Imarisio, Sara;
Saiki, Shinji;
O'Kane, Cahir J.;
Rubinsztein, David C.

Publication type:

Article

A block of autophagy in lysosomal storage disorders.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 1, p. 119, doi. 10.1093/hmg/ddm289

By:

Settembre, Carmine;
Fraldi, Alessandro;
Jahreiss, Luca;
Spampanato, Carmine;
Venturi, Consuelo;
Medina, Diego;
de Pablo, Raquel;
Tacchetti, Carlo;
Rubinsztein, David C.;
Ballabio, Andrea

Publication type:

Article

DAPK1 variants are associated with Alzheimer's disease and allele-specific expression.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 17, p. 2560, doi. 10.1093/hmg/ddl178

By:

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

Publication type:

Article

Rapamycin pre-treatment protects against apoptosis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 7, p. 1209, doi. 10.1093/hmg/ddl036

By:

Ravikumar, Brinda;
Berger, Zdenek;
Vacher, Coralie;
O'Kane, Cahir J.;
Rubinsztein, David C.

Publication type:

Article

Deleterious and protective properties of an aggregate-prone protein with a polyalanine expansion.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 3, p. 453, doi. 10.1093/hmg/ddi460

By:

Berger, Zdenek;
Davies, Janet E.;
Luo, Shouqing;
Pasco, Matthieu Y.;
Majoul, Irina;
O'Kane, Cahir J.;
Rubinsztein, David C.

Publication type:

Article

Rapamycin alleviates toxicity of different aggregate-prone proteins.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 3, p. 433, doi. 10.1093/hmg/ddi458

By:

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.

Publication type:

Article

Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 1, p. 23, doi. 10.1093/hmg/ddi422

By:

Davies, Janet E.;
Sarkar, Sovan;
Rubinsztein, David C.

Publication type:

Article

Overexpression of yeast hsp104 reduces polyglutamine aggregation and prolongs survival of a transgenic mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 22, p. 3425, doi. 10.1093/hmg/ddi372

By:

Vacher, Coralie;
Garcia-Oroz, Lourdes;
Rubinsztein, David C.

Publication type:

Article

Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3003, doi. 10.1093/hmg/ddi331

By:

Berger, Zdenek;
Ttofi, Evangelia K.;
Michel, Claire H.;
Pasco, Matthieu Y.;
Tenant, Sean;
Rubinsztein, David C.;
O'Kane, Cahir J.

Publication type:

Article

Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 9, p. 985, doi. 10.1093/hmg/ddg109

By:

Ravikumar, Brinda;
Stewart, Abigail;
Kita, Hiroko;
Kato, Kikuya;
Duden, Rainer;
Rubinsztein, David C.

Publication type:

Article

Modulation of polyglutamine-induced cell death by genes identified by expression profiling.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2279, doi. 10.1093/hmg/11.19.2279

By:

Kita, Hiroko;
Carmichael, Jenny;
Swartz, Jina;
Muro, Shizuko;
Wyttenbach, Andreas;
Matsubara, Kenichi;
Rubinsztein, David C.;
Kato, Kikuya

Publication type:

Article

Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1137, doi. 10.1093/hmg/11.9.1137

By:

Wyttenbach, Andreas;
Sauvageot, Olivier;
Carmichael, Jenny;
Diaz-Latoud, Chantal;
Arrigo, Andre-Patrik;
Rubinsztein, David C.

Publication type:

Article

Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1107, doi. 10.1093/hmg/11.9.1107

By:

Ravikumar, Brinda;
Duden, Rainer;
Rubinsztein, David C.

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1829, doi. 10.1093/hmg/10.17.1829

By:

Wyttenbach, Andreas;
Swartz, Jina;
Kita, Hiroko;
Thykjaer, Thomas;
Carmichael, Jenny;
Bradley, Jane;
Brown, Rosemary;
Maxwell, Michelle;
Schapira, Anthony;
Orntoft, Torben F.;
Kato, Kikuya;
Rubinsztein, David C.

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 16

By:

Wyttenbach, Andreas;
Swartz, Jina;
Kita, Hiroko;
Thykjaer, Thomas;
Carmichael, Jenny;
Bradley, Jane;
Brown, Rosemary;
Maxwell, Michelle;
Schapira, Anthony;
Orntoft, Torben F.;
Kato, Kikuya;
Rubinsztein, David C.

Publication type:

Article

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased ABeta42 secretion.

Published in:

Human Molecular Genetics, 1999, v. 8, n. 8, p. 1529, doi. 10.1093/hmg/8.8.1529

By:

Jonghe, Chris De;
Cruts, Marc;
Rogaeva, Ekaterina A.;
Tysoe, Carolyn;
Singleton, Andrew;
Vanderstichele, Hugo;
Meschino, Wendy;
Dermaut, Bart;
Vanderhoeven, Inge;
Backhovens, Hubert;
Vanmechelen, Eugeen;
Morris, Christopher M.;
Hardy, John;
Rubinsztein, David C.;
St. George-Hyslop, Peter H.;
Van Broeckhoven, Christine

Publication type:

Article

Ascertainment bias cannot entirely account for human microsatellites being longer than their chimpanzee homologues.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 9, p. 1425, doi. 10.1093/hmg/7.9.1425

By:

Cooper, Gillian;
Rubinsztein, David C.;
Amos, William

Publication type:

Article

Functional analysis of the Huntington's disease (HD) gene promoter.

Published in:

Human Molecular Genetics, 1998, v. 7, n. 5, p. 791, doi. 10.1093/hmg/7.5.791

By:

Coles, Rhian;
Caswell, Richard;
Rubinsztein, David C.

Publication type:

Article

Network Analysis of Human Y Microsatellite Haplotypes.

Published in:

Human Molecular Genetics, 1996, v. 5, n. 11, p. 1759, doi. 10.1093/hmg/5.11.1759

By:

Cooper, Gillian;
Amos, William;
Hoffman, Dorota;
Rubinsztein, David C.

Publication type:

Article