A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin

Lack of functional dystrophin causes severe Duchenne muscular dystrophy. The subsarcolemmal location of dystrophin, as well as its association with both cytoskeleton and membrane, suggests a role in the mechanical regulation of muscular membrane stress. In particular, phenotype rescue in a Duchenne...

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Autors principals: Legardinier, Sébastien, Legrand, Baptiste, Raguénès-Nicol, Céline, Bondon, Arnaud, Hardy, Serge, Tascon, Christophe, Le Rumeur, Elisabeth, Hubert, Jean-François
Format: Artigo
Idioma:Inglês
Publicat: American Society for Biochemistry and Molecular Biology 2009
Matèries:
Protein Structure and Folding
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2659240/
https://ncbi.nlm.nih.gov/pubmed/19158079
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M805846200
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