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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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Bibliografische gegevens
Hoofdauteurs: Azakir, Bilal A., Di Fulvio, Sabrina, Kinter, Jochen, Sinnreich, Michael
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Biochemistry and Molecular Biology 2012
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Online toegang: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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