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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Bibliographic Details
Published in:Frontiers in Neurology
Main Authors: Thomas M Durcan, Edward A Fon
Format: Article
Language:English
Published: Frontiers Media S.A. 2013-05-01
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Online Access:http://journal.frontiersin.org/Journal/10.3389/fneur.2013.00046/full