Results 51 to 60 of about 19,027,943 (182)
Neurobiology of Disease, 2006 Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disease caused by polyglutamine-expanded ataxin-3. In the present study, we expressed disease-causing mutant ataxin-3-Q79 in neuronal cultures of cerebellum, striatum and ...
An-Hsun Chou +8 more
doaj +1 more source
Drug repurposing of dopaminergic drugs to inhibit Ataxin-3 aggregation
bioRxiv, 2022 The accumulation of mutant ataxin-3 (Atx3) in neuronal nuclear inclusions is a pathological hallmark of Machado-Joseph disease (MJD), also known as Spinocerebellar Ataxia Type 3.
Francisco Figueiredo +4 more
semanticscholar +1 more source
Splice isoforms of the polyglutamine disease protein ataxin-3 exhibit similar enzymatic yet different aggregation properties. [PDF]
PLoS ONE, 2010 Protein context clearly influences neurotoxicity in polyglutamine diseases, but the contribution of alternative splicing to this phenomenon has rarely been investigated.
Ginny Marie Harris +4 more
doaj +1 more source
Movement Disorders, 2021 Spinocerebellar ataxia type 3 is a rare neurodegenerative disease caused by a CAG repeat expansion in the ataxin‐3 gene. Although no curative therapy is yet available, preclinical gene‐silencing approaches to reduce polyglutamine (polyQ) toxicity ...
Jeannette Hübener-Schmid +22 more
semanticscholar +1 more source
Silencing ataxin-3 mitigates degeneration in a rat model of Machado–Joseph disease: no role for wild-type ataxin-3? [PDF]
Human Molecular Genetics, 2010 Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) is a fatal, autosomal dominant disorder caused by a cytosine-adenine-guanine expansion in the coding region of the MJD1 gene. RNA interference has potential as a therapeutic approach but raises the issue of the role of wild-type ataxin-3 (WT ATX3) in MJD and of whether the expression of
Sandro, Alves +10 more
openaire +2 more sources
SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity. [PDF]
PLoS ONE, 2013 Post-translational modification by SUMO was proposed to modulate the pathogenesis of several neurodegenerative diseases. Spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) is an autosomal dominant neurodegenerative disease caused by polyQ ...
Ya-Fang Zhou +11 more
doaj +1 more source
Mutant ataxin-3 promotes the autophagic degradation of parkin [PDF]
Autophagy, 2011 There is growing evidence that autophagy plays a key role in neurodegenerative diseases. For instance, stimulating autophagy is neuroprotective both in vitro and in vivo in models of trinucleotide-repeat diseases such as Machado-Joseph disease (MJD). Similarly, proteins associated with familial forms of Parkinson disease (PD) such as parkin and PINK1 ...
Thomas M, Durcan, Edward A, Fon
openaire +2 more sources
Ataxin-3 is transported into the nucleus and associates with the nuclear matrix [PDF]
Human Molecular Genetics, 1998 It has been reported that the ataxin-3 protein containing a polyglutamine sequence in the pathological range (61-84Q) is localized within the nucleus of neuronal cells, whereas ataxin-3 with a normal repeat length (12-37Q) is predominantly a cytoplasmic protein.
D. Tait +8 more
openaire +2 more sources
Antibody Characterization Report for Ataxin-3
, 2021 Head-to-head comparison of available commercial antibodies against Ataxin-3 by immunoblot (Western blot), immunoprecipitation and immunofluorescence. The following study was funded in part by Genome Québec's Genomics Integration Program, awarded to the research laboratory of Peter S. McPherson.
Villegas, Lorenza +6 more
openaire +2 more sources
Mouse Ataxin-3 Functional Knock-Out Model [PDF]
NeuroMolecular Medicine, 2010 Spinocerebellar ataxia 3 (SCA3) is a genetic disorder resulting from the expansion of the CAG repeats in the ATXN3 gene. The pathogenesis of SCA3 is based on the toxic function of the mutant ataxin-3 protein, but the exact mechanism of the disease remains elusive.
Switonski, Pawel M. +5 more
openaire +2 more sources