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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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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2013
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| 主題: | |
| オンライン･アクセス: | 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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