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...

Full description

Saved in:
Bibliographic Details
Main Authors: Azakir, Bilal A., Di Fulvio, Sabrina, Kinter, Jochen, Sinnreich, Michael
Format: Artigo
Language:Inglês
Published: American Society for Biochemistry and Molecular Biology 2012
Subjects:
Cell Biology
Online Access: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
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items