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

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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Bibliographic Details
Main Authors: Tominaga, Kana, Tominaga, Naoomi, Williams, Eric O, Rufibach, Laura, Schöwel, Verena, Spuler, Simone, Viswanathan, Mohan, Guarente, Leonard P
Other Authors: Massachusetts Institute of Technology. Department of Biology
Format: Article
Language:English
Published: Elsevier BV 2022
Online Access:https://hdl.handle.net/1721.1/146805

Internet

https://hdl.handle.net/1721.1/146805

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