Results 71 to 80 of about 19,027,943 (182)
Ataxin-3 and its E3 partners: Implications for Machado-Joseph disease
Frontiers in Neurology, 2013 Machado-Joseph disease (MJD) is the most common dominant inherited ataxia worldwide, caused by an unstable CAG trinucleotide expansion mutation within the SCA3 gene resulting in an expanded polyglutamine tract within the ataxin-3 protein.
Thomas M Durcan, Edward A Fon
doaj +1 more source
Cell Death and Disease, 2022 Defects in ataxin-3 proteins and CAG repeat expansions in its coding gene ATXN3 cause Spinocerebellar Ataxia Type 3 (SCA3) or Machado-Joseph disease (MJD) polyglutamine neurodegenerative disease. The mutant proteins aggregate as inclusion bodies in cells
Xiaobo Han +15 more
doaj +1 more source
Movement Disorders, 2022 Spinocerebellar ataxia type 3 (SCA 3) is a rare devastating neu-rodegenerative disorder caused by the expansion of CAG repeats in exon 10 of the ataxin-3 ( ATXN3 ) gene, resulting in the expression of polyglutamine (polyQ) expanded mutant protein (mATXN3)
P. Breuer +6 more
semanticscholar +1 more source
RNA toxicity is a component of ataxin-3 degeneration in Drosophila [PDF]
Nature, 2008 Polyglutamine (polyQ) diseases are a class of dominantly inherited neurodegenerative disorders caused by the expansion of a CAG repeat encoding glutamine within the coding region of the respective genes. The molecular and cellular pathways underlying polyQ-induced neurodegeneration are the focus of much research, and it is widely considered that toxic ...
Ling-Bo, Li +3 more
openaire +2 more sources
Autophagy Function and Benefits of Autophagy Induction in Models of Spinocerebellar Ataxia Type 3
Cells, 2023 Background: Spinocerebellar ataxia 3 (SCA3, also known as Machado Joseph disease) is a fatal neurodegenerative disease caused by the expansion of the trinucleotide repeat region within the ATXN3/MJD gene. The presence of this genetic expansion results in
Maxinne Watchon +4 more
doaj +1 more source
Redox‐Dependent Chaperoning of GBF1 Condensates Regulates Seed Germination in Arabidopsis
Advanced Science, EarlyView.In dormant seeds (low ROS), GBF1 forms liquid condensates to repress the germination gene CathB3, and the chaperone GIP1 maintains condensate liquidity and repressive activity. Upon imbibition (high ROS), ROS oxidize GIP1 during germination, impairing its chaperone function.
Yunying Wang, Xiaofeng Fang
wiley +1 more source
Basal and stress-induced Hsp70 are modulated by ataxin-3 [PDF]
Cell Stress and Chaperones, 2012 Regulation of basal and induced levels of hsp70 is critical for cellular homeostasis. Ataxin-3 is a deubiquitinase with several cellular functions including transcriptional regulation and maintenance of protein homeostasis. While investigating potential roles of ataxin-3 in response to cellular stress, it appeared that ataxin-3 regulated hsp70.
Reina, Christopher P. +3 more
openaire +2 more sources
Neurobiology of Disease, 2015 Ataxin-3 is a deubiquitinase and polyglutamine (polyQ) disease protein with a protective role in Drosophila melanogaster models of neurodegeneration. In the fruit fly, wild-type ataxin-3 suppresses toxicity from several polyQ disease proteins, including ...
Wei-Ling Tsou +6 more
doaj +1 more source
RNA interference mitigates motor and neuropathological deficits in a cerebellar mouse model of Machado-Joseph disease. [PDF]
PLoS ONE, 2014 Machado-Joseph disease or Spinocerebellar ataxia type 3 is a progressive fatal neurodegenerative disorder caused by the polyglutamine-expanded protein ataxin-3. Recent studies demonstrate that RNA interference is a promising approach for the treatment of
Clévio Nóbrega +5 more
doaj +1 more source
Journal of Cell Science, 2021 DNA damage-induced SUMOylation serves as a signal for two antagonizing proteins that both stimulate repair of DNA double-strand breaks (DSBs). Here, we demonstrate that the SUMO-dependent recruitment of the deubiquitylating enzyme ataxin-3 to DSBs ...
Annika Pfeiffer +9 more
semanticscholar +1 more source