trinucleotide

ataxin 3 ; Homo sapiens







34 Article(s)
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1 35635856 The association between educational attainment and SCA 3 age of onset and disease course. 2022 May 2
2 31639609 Generation of induced pluripotent stem cell line (ZZUi0014-A) from a patient with spinocerebellar ataxia type 3. 2019 Dec 2
3 29936336 Generation of an induced pluripotent stem cell line from a patient with spinocerebellar ataxia type 3 (SCA3): HIHCNi002-A. 2018 Jul 3
4 26861241 Effects of the enlargement of polyglutamine segments on the structure and folding of ataxin-2 and ataxin-3 proteins. 2017 Feb 1
5 28395798 Generation of induced pluripotent stem cells from a patient with spinocerebellar ataxia type 3. 2017 Jan 3
6 27328712 Fibroblasts of Machado Joseph Disease patients reveal autophagy impairment. 2016 Jun 22 1
7 27847820 Autophagy Promoted the Degradation of Mutant ATXN3 in Neurally Differentiated Spinocerebellar Ataxia-3 Human Induced Pluripotent Stem Cells. 2016 2
8 26710806 [The study of clinical characteristics and molecular genetics in a large spinocerebellar ataxia3 pedigree]. 2015 Jul 7 1
9 23617879 Schwann cell involvement in the peripheral neuropathy of spinocerebellar ataxia type 3. 2014 Aug 3
10 24266403 Allele-selective inhibition of expression of huntingtin and ataxin-3 by RNA duplexes containing unlocked nucleic acid substitutions. 2013 Dec 23 2
11 21827905 Machado-Joseph disease/spinocerebellar ataxia type 3. 2012 1
12 25317135 Clinical manifestations and gene mutation in a case of Machado-Joseph disease. 2012 Dec 15 2
13 20199210 A spinocerebellar ataxia family with expanded alleles in the TATA-binding protein gene and ataxin-3 gene. 2010 Feb 1
14 19713033 Machado-Joseph disease/SCA3 and myotonic dystrophy type 1 in a single patient. 2009 Dec 2
15 20017304 [Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology]. 2009 Aug 5
16 16080609 Fluorescent multiplex PCR--fast method for autosomal dominant spinocerebellar ataxias screening. 2005 Jun 2
17 16194547 Towards a structural understanding of the fibrillization pathway in Machado-Joseph's disease: trapping early oligomers of non-expanded ataxin-3. 2005 Oct 28 1
18 15080863 Analysis of trinucleotide repeats in different SCA loci in spinocerebellar ataxia patients and in normal population of Taiwan. 2004 May 2
19 15637221 The pathogenesis of Machado Joseph Disease: a high manganese/low magnesium initiated CAG expansion mutation in susceptible genotypes? 2004 Dec 1
20 12944474 Ataxin-3 interactions with rad23 and valosin-containing protein and its associations with ubiquitin chains and the proteasome are consistent with a role in ubiquitin-mediated proteolysis. 2003 Sep 1
21 12116198 Difference in disease-free survival curve and regional distribution according to subtype of spinocerebellar ataxia: a study of 1,286 Japanese patients. 2002 Jul 8 2
22 11396263 [Autosomal dominant cerebellar ataxias in the Netherlands: a national inventory]. 2001 May 19 1
23 11002696 Spanish family with Machado-Joseph disease: neurophysiological features and neuropathy study. 2000 Jun-Jul 1
24 11342385 The status of SCA1, MJD/SCA3, FRDA, DRPLA and MD triplet containing genes in patients with Huntington disease and healthy controls. 2000 Dec 1
25 10069576 Heterogeneous intracellular localization and expression of ataxin-3. 1998 Nov 1
26 9153459 Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene. 1997 May 1
27 8609925 Electrophysiological findings in a Danish family with Machado-Joseph disease. 1996 Jun 1
28 8659514 A familial factor independent of CAG repeat length influences age at onset of Machado-Joseph disease. 1996 Jul 1
29 8800925 Machado-Joseph disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. 1996 1
30 8968739 Screening for proteins with polyglutamine expansions in autosomal dominant cerebellar ataxias. 1996 Dec 1
31 9109985 Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1. 1996 Sep 2
32 7574470 Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. 1995 Oct 1
33 7655453 Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. 1995 Jun 2
34 20301375 Spinocerebellar Ataxia Type 3 1993 3