Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy
Author:
Affiliation:
1. Neuromuscular Research Group, Departments of Neurology and Biomedicine, University Hospital Basel, 4031 Basel, Switzerland.
2. Clinical Trial Unit, University Hospital Basel, 4031 Basel, Switzerland.
Abstract
Publisher
American Association for the Advancement of Science (AAAS)
Subject
General Medicine
Reference38 articles.
1. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy
2. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B
3. Distal anterior compartment myopathy: A dysferlin mutation causing a new muscular dystrophy phenotype
4. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions
5. Dysferlin expression in monocytes: A source of mRNA for mutation analysis
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2. Proteasome inhibitors to alleviate aberrant IKBKAP mRNA splicing and low IKAP/hELP1 synthesis in familial dysautonomia;Neurobiology of Disease;2017-07
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