Machado–Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ATXN3 gene contains CAG repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado–Joseph disease.

2019年1月11日 · 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.

2024年12月24日 · ATXN3 (Ataxin 3) is a Protein Coding gene. Diseases associated with ATXN3 include Machado-Joseph Disease and Parkinson Disease, Late-Onset. Among its related pathways are Gene expression (Transcription) and Metabolism of proteins.

Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease, is a progressive neurodegenerative disorder characterized by loss of neuronal matter due to the expansion of the CAG repeat in the ATXN3/MJD1 gene and subsequent ataxin-3 ...

Herein, we review the functioning of ataxin-3 and the involvement of known protein and RNA toxicity mechanisms of mutant ataxin-3 that have been discovered, as well as future opportunities for therapeutic intervention.

Ataxin-3 (AT3,ATXN3)是一种重要的去泛素化酶,正常情况下,它参与基因转录,蛋白代谢,磷酸化以及自身泛素化水平的调节.然而突变的Ataxin-3的表达可致转录失调,导致细胞毒性和神经退行性变疾病,如脊髓小脑共济失调3(SCA3).AT3的异常不仅能导致神经性病变,而且据最近 ...

2024年3月19日 · 本文旨在回顾有关ataxin-3的DUB功能、其DUB靶点以及polyQ扩展对ataxin-3的DUB功能影响的现有文献，以及考虑ataxin-3的DUB功能的潜在神经保护效应，并探讨ataxin-3作为DUB酶和基因转录调节因子的交叉点。

Ataxin-3 is a highly specialized DUB with ubiquitin interacting motifs (UIMs) flanking the polyglutamine domain (Box 2). In vitro, ataxin-3 binds K48- and K63-linked Ub chains at least four Ub long through its UIMs, preferentially cleaves chains longer than four Ub, and cleaves K63-linkages better than K48 ones [50,51]. These properties suggest ...

The ATXN3 gene provides instructions for making an enzyme called ataxin-3, which is found in cells throughout the body. Ataxin-3 is involved in a mechanism called the ubiquitin-proteasome system that destroys and gets rid of excess or damaged proteins.

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 ...

2022年4月26日 · Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease, is a progressive neurodegenerative disorder characterized by loss of neuronal matter due to the expansion of the CAG repeat in the ATXN3/MJD1 gene and subsequent ataxin-3 protein.

2022年4月26日 · Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph Disease, is a progressive neurodegenerative disorder characterized by loss of neuronal matter due to the expansion of the CAG repeat in the ATXN3/MJD1 gene and subsequent ataxin-3 protein.

2015年1月29日 · Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominant neurodegenerative disorder, characterized by progressive ataxia, spasticity, and ocular movement abnormalities.

2013年11月29日 · Ataxin-3 is a ubiquitously expressed deubiqutinating enzyme with important functions in the proteasomal protein degradation pathway and regulation of transcription.

Ataxin-3 (ATXN3), also known as Ataxin-3, ATX3, AT3, or MJD, is a molecule of the MJDs family, which is a part of the major Cys DUB families, with three ubiquitin-binding motifs (UIMs) at the C-terminus that coordinate its interaction with E3 ligases and function as its ubiquitin-binding and cutting (Zou et al., 2019).

Ataxin-3(AT3,ATXN3)是一种重要的去泛素化酶,正常情况下,它参与基因转录、蛋白代谢、磷酸化以及自身泛素化水平的调节.然而突变的Ataxin-3的表达可致转录失调,导致细胞毒性和神经退行性变疾病,如脊髓小脑共济失调3(SCA3).AT3的异常不仅能导致神经性病变,而且据最近 ...

Ataxin-3 is a ubiquitously expressed deubiqutinating enzyme with important functions in the proteasomal protein degradation pathway and regulation of transcription. The C-terminus of the ataxin-3 protein contains a polyglutamine (PolyQ) region that, when mutationally expanded to over 52 glutamines, …

We propose that ATXN3 regulates two relevant biological processes in the retina, namely, ciliogenesis and phagocytosis, by modulating microtubule polymerization and microtubule-dependent retrograde transport, thus positing ATXN3 as a causative or modifier gene in retinal/macular dystrophies.

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.

2025年3月6日 · In this study, we found that GBM tissues and cells exhibit significantly elevated expression levels of ataxin 3 (ATXN3). Functional experiments demonstrated that ATXN3 promotes the invasion ...