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Physiological and pathophysiological characteristics of ataxin-3 isoforms

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. Additionally, nonsynonymous SNPs in ATXN3 c...

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發表在:J Biol Chem
Main Authors: Weishäupl, Daniel, Schneider, Juliane, Peixoto Pinheiro, Barbara, Ruess, Corinna, Dold, Sandra Maria, von Zweydorf, Felix, Gloeckner, Christian Johannes, Schmidt, Jana, Riess, Olaf, Schmidt, Thorsten
格式: Artigo
語言:Inglês
出版: American Society for Biochemistry and Molecular Biology 2019
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6333899/
https://ncbi.nlm.nih.gov/pubmed/30455355
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.005801
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