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Proteasomal Inhibition Restores Biological Function of Mis-sense Mutated Dysferlin in Patient-derived Muscle Cells

Dysferlin is a transmembrane protein implicated in surface membrane repair of muscle cells. Mutations in dysferlin cause the progressive muscular dystrophies Miyoshi myopathy, limb girdle muscular dystrophy 2B, and distal anterior compartment myopathy. Dysferlinopathies are inherited in an autosomal...

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Detalles Bibliográficos
Main Authors: Azakir, Bilal A., Di Fulvio, Sabrina, Kinter, Jochen, Sinnreich, Michael
Formato: Artigo
Idioma:Inglês
Publicado: American Society for Biochemistry and Molecular Biology 2012
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3323038/
https://ncbi.nlm.nih.gov/pubmed/22318734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.329078
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