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4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations

Dysferlinopathies are muscular dystrophies caused by recessive loss-of-function mutations in dysferlin (DYSF), a membrane protein involved in skeletal muscle membrane repair. We describe a cell-based assay in which human DYSF proteins bearing missense mutations are quantitatively assayed for membran...

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Detalles Bibliográficos
Autores principales:	Tominaga, Kana, Tominaga, Naoomi, Williams, Eric O., Rufibach, Laura, Schöwel, Verena, Spuler, Simone, Viswanathan, Mohan, Guarente, Leonard P.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8741482/ https://www.ncbi.nlm.nih.gov/pubmed/35028538 http://dx.doi.org/10.1016/j.isci.2021.103667

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