Article
Differential impact of ubiquitous and muscle dynamin 2 isoforms in muscle physiology and centronuclear myopathy.
Nature communications - 11 Nov 2022
Gómez-Oca Raquel, Edelweiss Evelina, Djeddi Sarah, Gerbier Mathias, Massana-Muñoz Xènia, Oulad-Abdelghani Mustapha, Crucifix Corinne, Spiegelhalter Coralie, Messaddeq Nadia, Poussin-Courmontagne Pierre, Koebel Pascale, Cowling Belinda S, Laporte Jocelyn
Abstract excerpt
Dynamin 2 mechanoenzyme is a key regulator of membrane remodeling and gain-of-function mutations in its gene cause centronuclear myopathies. Here, we investigate the functions of dynamin 2 isoforms and their associated phenotypes and, specifically, the ubiquitous and muscle-specific dynamin 2 isoforms expressed in skeletal muscle. In cell-based assays, we show that a centronuclear myopathy-related mutation in the...
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