Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells
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DOI: 10.1038/s41598-017-04418-w
Abstract: Dynamin-2 is a ubiquitously expressed GTP-ase that mediates membrane remodeling. Recent findings indicate that dynamin-2 also regulates actin dynamics. Mutations in dynamin-2 cause dominant centronuclear myopathy (CNM), a congenital myopathy characterized by progressive weakness and… read more here.
Keywords: muscle; dynamin mutations; muscle cells; centronuclear myopathy ... See more keywords
Gain-of-Function Dynamin-2 Mutations Linked to Centronuclear Myopathy Impair Ca2+-Induced Exocytosis in Human Myoblasts
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DOI: 10.3390/ijms231810363
Abstract: Gain-of-function mutations of dynamin-2, a mechano-GTPase that remodels membrane and actin filaments, cause centronuclear myopathy (CNM), a congenital disease that mainly affects skeletal muscle tissue. Among these mutations, the variants p.A618T and p.S619L lead to… read more here.
Keywords: centronuclear myopathy; gain function; exocytosis; human myoblasts ... See more keywords