Apoptosis blocks Beclin 1-dependent autophagosome synthesis – an effect rescued by Bcl-xL

Por Luo, S, Rubinsztein, D C.
Publicado em 2009

Non-Mendelian transmission at the Machado-Joseph disease locus in normal females: preferential transmission of alleles with smaller CAG repeats.

Por Rubinsztein, D C, Leggo, J
Publicado em 1997

Polyalanine and polyserine frameshift products in Huntington's disease

Por Davies, J E, Rubinsztein, D C
Publicado em 2006

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.

Por Coles, R, Leggo, J, Rubinsztein, D C
Publicado em 1997

Intracellular green fluorescent protein-polyalanine aggregates are associated with cell death.

Por Rankin, J, Wyttenbach, A, Rubinsztein, D C
Publicado em 2000

Microsatellite and trinucleotide-repeat evolution: evidence for mutational bias and different rates of evolution in different lineages.

Por Rubinsztein, D C, Amos, B, Cooper, G
Publicado em 1999

A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.

Por Reid, E, Dearlove, A M, Rhodes, M, Rubinsztein, D C
Publicado em 1999

alpha-synuclein overexpression promotes aggregation of mutant huntingtin.

Por Furlong, R A, Narain, Y, Rankin, J, Wyttenbach, A, Rubinsztein, D C
Publicado em 2000

A Locus for Autosomal Dominant “Pure” Hereditary Spastic Paraplegia Maps to Chromosome 19q13

Por Reid, E., Dearlove, A. M., Osborn, O., Rogers, M. T., Rubinsztein, D. C.
Publicado em 2000

The Parkinson's disease protein LRRK2 impairs proteasome substrate clearance without affecting proteasome catalytic activity

Por Lichtenberg, M, Mansilla, A, Zecchini, V R, Fleming, A, Rubinsztein, D C
Publicado em 2011

Mild myotonic dystrophy is associated with memory impairment in the context of normal general intelligence.

Por Rubinsztein, J S, Rubinsztein, D C, McKenna, P J, Goodburn, S, Holland, A J
Publicado em 1997

Wild-type but not mutant huntingtin modulates the transcriptional activity of liver X receptors

Por Futter, M, Diekmann, H, Schoenmakers, E, Sadiq, O, Chatterjee, K, Rubinsztein, D C
Publicado em 2009

The tRNA(Gln) 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years.

Por Tysoe, C, Robinson, D, Brayne, C, Dening, T, Paykel, E S, Huppert, F A, Rubinsztein, D C
Publicado em 1996

Instability of normal (CTG)n alleles in the DM kinase gene.

Por Dow, D J, Rubinsztein, D C, Yates, J R, Barton, D E, Ferguson-Smith, M A
Publicado em 1997

Analysis of spinocerebellar ataxia types 1, 2, 3, and 6, dentatorubral-pallidoluysian atrophy, and Friedreich's ataxia genes in spinocerebellar ataxia patients in the UK.

Por Leggo, J, Dalton, A, Morrison, P J, Dodge, A, Connarty, M, Kotze, M J, Rubinsztein, D C
Publicado em 1997

Inhibition of autophagy, lysosome and VCP function impairs stress granule assembly

Por Seguin, S J, Morelli, F F, Vinet, J, Amore, D, De Biasi, S, Poletti, A, Rubinsztein, D C, Carra, S
Publicado no Cell Death Differ (2014)

Mitochondrial genetic analyses suggest selection against maternal lineages in bipolar affective disorder.

Por Kirk, R, Furlong, R A, Amos, W, Cooper, G, Rubinsztein, J S, Walsh, C, Paykel, E S, Rubinsztein, D C
Publicado em 1999

Chylomicron remnant clearance from the plasma is normal in familial hypercholesterolemic homozygotes with defined receptor defects.

Por Rubinsztein, D C, Cohen, J C, Berger, G M, van der Westhuyzen, D R, Coetzee, G A, Gevers, W
Publicado em 1990

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.

Por Tysoe, C, Whittaker, J, Xuereb, J, Cairns, N J, Cruts, M, Van Broeckhoven, C, Wilcock, G, Rubinsztein, D C
Publicado em 1998

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.

Por Rubinsztein, D C, Leggo, J, Goodburn, S, Crow, T J, Lofthouse, R, DeLisi, L E, Barton, D E, Ferguson-Smith, M A
Publicado em 1994