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
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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
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Ataxin-1 fusion partners alter polyQ lethality and aggregation [PDF]
, 2007 Intranuclear inclusion bodies (IBs) are the histopathologic markers of multiple protein folding diseases. IB formation has been extensively studied using fluorescent fusion products of pathogenic polyglutamine (polyQ) expressing proteins.
Rich, T. +5 more
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Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]
, 2008 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
X. Chen +15 more
core +1 more source
Neurobiology of Disease, 2018 Among the nine dominantly inherited, age-dependent neurodegenerative diseases caused by abnormal expansion in the polyglutamine (polyQ) repeat of otherwise unrelated proteins is Spinocerebellar Ataxia Type 3 (SCA3).
Gorica Ristic +3 more
doaj +1 more source
Mutant Ataxin-2 Expression in Aged Animals Aggravates Neuropathological Features Associated with Spinocerebellar Ataxia Type 2 [PDF]
, 2022 Spinocerebellar ataxia type 2 (SCA2) is a rare autosomal, dominantly inherited disease, in which the affected individuals have a disease onset around their third life decade. The molecular mechanisms underlying SCA2 are not yet completely understood, for
André Conceição +10 more
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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
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Importin-8 silencing reduces Ataxin-3 aggregation and alleviates Machado-Joseph disease/spinocerebellar ataxia type 3. [PDF]
iScienceDataset for: Importin-8 silencing reduces Ataxin-3 aggregation and alleviates Machado-Joseph disease/Spinocerebellar ataxia type 3 This repository contains the supplementary data and unprocessed raw datasets supporting the study of nucleocytoplasmic ...
Morgado Martins I +9 more
europepmc +2 more sources
ATXN2 and its neighbouring gene SH2B3 are associated with increased ALS risk in the Turkish population [PDF]
, 2012 Expansions of the polyglutamine (polyQ) domain (≥34) in Ataxin-2 (ATXN2) are the primary cause of spinocerebellar ataxia type 2 (SCA2). Recent studies reported that intermediate-length (27–33) expansions increase the risk of Amyotrophic Lateral Sclerosis
Hilmi Özçelik (5648923) +35 more
core +2 more sources