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Dysferlin-Peptides Reallocate Mutated Dysferlin Thereby Restoring Function

Mutations in the dysferlin gene cause the most frequent adult-onset limb girdle muscular dystrophy, LGMD2B. There is no therapy. Dysferlin is a membrane protein comprised of seven, beta-sheet enriched, C2 domains and is involved in Ca(2+)dependent sarcolemmal repair after minute wounding. On the pro...

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Detalles Bibliográficos
Autores principales: Schoewel, Verena, Marg, Andreas, Kunz, Severine, Overkamp, Tim, Siegert Carrazedo, Romy, Zacharias, Ute, Daniel, Peter T., Spuler, Simone
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502493/
https://www.ncbi.nlm.nih.gov/pubmed/23185377
http://dx.doi.org/10.1371/journal.pone.0049603