Proteasomal Inhibition Restores Biological Function of Mis-sense Mutated Dysferlin in Patient-derived Muscle Cells
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference36 articles.
1. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat. Genet.,1998
2. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B;Bashir;Nat. Genet.,1998
3. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype;Illa;Ann. Neurol.,2001
4. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions;Therrien;J. Neurol. Sci.,2006
5. Defective membrane repair in dysferlin-deficient muscular dystrophy;Bansal;Nature,2003
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