Results 41 to 50 of about 19,027,943 (182)
Physiological and pathophysiological characteristics of ataxin-3 isoforms. [PDF]
J Biol Chem, 2019 Ataxin-3 is a deubiquitinating enzyme and the affected protein in the neurodegenerative disorder Machado-Joseph disease (MJD). The ATXN3 gene is alternatively spliced, resulting in protein isoforms that differ in the number of ubiquitin-interacting motifs.
Weishäupl D +9 more
europepmc +5 more sources
Valosin-containing protein (VCP/p97) is an activator of wild-type ataxin-3. [PDF]
PLoS ONE, 2012 Alterations in the ubiquitin-proteasome system (UPS) have been reported in several neurodegenerative disorders characterized by protein misfolding and aggregation, including the polylgutamine diseases.
Mário N Laço +4 more
doaj +1 more source
Disease Models & Mechanisms, 2021 Spinocerebellar ataxia 3 (SCA3, also known as Machado–Joseph disease) is a neurodegenerative disease caused by inheritance of a CAG repeat expansion within the ATXN3 gene, resulting in polyglutamine (polyQ) repeat expansion within the ataxin-3 protein ...
Katherine J. Robinson +7 more
doaj +1 more source
Ataxin‐3 is subject to autolytic cleavage [PDF]
The FEBS Journal, 2006 The protein ataxin‐3 is responsible for spinocerebellar ataxia type 3, a neurodegenerative disease triggered when the length of a stretch of consecutive glutamines exceeds a critical threshold. Different physiologic roles have been suggested for this protein.
Pier Luigi Mauri +8 more
openaire +5 more sources
Neurodegenerative phosphoprotein signaling landscape in models of SCA3
Molecular Brain, 2021 Spinocerebellar ataxia type 3 (SCA3) is a rare neurodegenerative disorder resulting from an aberrant expansion of a polyglutamine stretch in the ataxin-3 protein and subsequent neuronal death. The underlying intracellular signaling pathways are currently
Anna S. Sowa +7 more
doaj +1 more source
PolyQ-expanded ataxin-3 interacts with full-length ataxin-3 in a polyQ length-dependent manner [PDF]
Neuroscience Bulletin, 2008 Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is a dominant neurodegenerative disorder caused by an expansion of the polyglutamine (polyQ) tract in MJD-1 gene product, ataxin-3 (AT3). This disease is characterized by the formation of intraneuronal inclusions, but the mechanism underlying their formation is still ...
Na-Li, Jia +4 more
openaire +2 more sources
Cerebellar soluble mutant ataxin-3 level decreases during disease progression in Spinocerebellar Ataxia Type 3 mice. [PDF]
PLoS ONE, 2013 Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominantly inherited neurodegenerative disease caused by an expanded polyglutamine stretch in the ataxin-3 protein.
Huu Phuc Nguyen +5 more
doaj +1 more source
Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3 [PDF]
Human Molecular Genetics, 2006 Spinocerebellar ataxia type 3 (SCA3), like other polyglutamine (polyQ) diseases, is characterized by the formation of intraneuronal inclusions, but the mechanism underlying their formation is poorly understood. Here, we tested the "toxic fragment hypothesis", which predicts that proteolytic production of polyQ-containing fragments from the full-length ...
Haacke, A. +5 more
openaire +3 more sources
NEDD8: A new ataxin-3 interactor
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, 2007 Machado-Joseph disease (MJD/SCA3) is an autosomal dominant neurodegenerative disease caused by the expansion of a CAG tract in the coding portion of the ATXN3 gene. The presence of ubiquitin-positive aggregates of the defective protein in affected neurons is characteristic of this and most of the polyglutamine disorders.
Ferro, Anabela +10 more
openaire +4 more sources
Gene Expression Profiling in Ataxin-3 Expressing Cell Lines Reveals Distinct Effects of Normal and Mutant Ataxin-3 [PDF]
Journal of Neuropathology & Experimental Neurology, 2003 Spinocerebellar ataxia type 3 (SCA3) is a late-onset neurodegenerative disorder caused by the expansion of a polyglutamine tract within the gene product, ataxin-3. We have previously shown that mutant ataxin-3 causes upregulation of inflammatory genes in transgenic SCA3 cell lines and human SCA3 pontine neurons.
Evert, BO +7 more
openaire +3 more sources