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Calpain-1 ablation partially rescues disease-associated hallmarks in models of Machado-Joseph disease

Proteolytic fragmentation of polyglutamine-expanded ataxin-3 is a concomitant and modifier of the molecular pathogenesis of Machado–Joseph disease (MJD), the most common autosomal dominant cerebellar ataxia. Calpains, a group of calcium-dependent cysteine proteases, are important mediators of ataxin...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Weber, Jonasz J, Haas, Eva, Maringer, Yacine, Hauser, Stefan, Casadei, Nicolas L P, Chishti, Athar H, Riess, Olaf, Hübener-Schmid, Jeannette
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7158375/
https://ncbi.nlm.nih.gov/pubmed/31960910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa010
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