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Ataxin-3 and its E3 partners: Implications for Machado-Joseph disease

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. Ataxin-3 functions as a deubiquitinating enzyme (DUB), within...

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Principais autores: Thomas M Durcan, Edward A Fon
格式: Artigo
语言:Inglês
出版: Frontiers Media S.A. 2013-05-01
丛编:Frontiers in Neurology
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在线阅读:http://journal.frontiersin.org/Journal/10.3389/fneur.2013.00046/full
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