Article
Mice with muscle-specific deletion of Bin1 recapitulate centronuclear myopathy and acute downregulation of dynamin 2 improves their phenotypes.
Molecular therapy : the journal of the American Society of Gene Therapy - 2 Feb 2022
Silva-Rojas Roberto, Nattarayan Vasugi, Jaque-Fernandez Francisco, Gomez-Oca Raquel, Menuet Alexia, Reiss David, Goret Marie, Messaddeq Nadia, Lionello Valentina M, Kretz Christine, Cowling Belinda S, Jacquemond Vincent, Laporte Jocelyn
Abstract excerpt
Mutations in the BIN1 (Bridging Interactor 1) gene, encoding the membrane remodeling protein amphiphysin 2, cause centronuclear myopathy (CNM) associated with severe muscle weakness and myofiber disorganization and hypotrophy. There is no available therapy, and the validation of therapeutic proof of concept is impaired by the lack of a faithful and easy-to-handle mammalian model. Here, we generated and...
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