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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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Autores principales: Durcan, Thomas M., Fon, Edward A.
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2013
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3644722/
https://ncbi.nlm.nih.gov/pubmed/23653622
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2013.00046
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