Article
Functional correction of dystrophin actin binding domain mutations by genome editing.
JCI insight - 21 Sept 2017
Kyrychenko Viktoriia, Kyrychenko Sergii, Tiburcy Malte, Shelton John M, Long Chengzu, Schneider Jay W, Zimmermann Wolfram-Hubertus, Bassel-Duby Rhonda, Olson Eric N
Abstract excerpt
Dystrophin maintains the integrity of striated muscles by linking the actin cytoskeleton with the cell membrane. Duchenne muscular dystrophy (DMD) is caused by mutations in the dystrophin gene (DMD) that result in progressive, debilitating muscle weakness, cardiomyopathy, and a shortened lifespan. Mutations of dystrophin that disrupt the amino-terminal actin-binding domain 1 (ABD-1), encoded by exons 2-8,...
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