Article
A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.
Traffic (Copenhagen, Denmark) - 1 Jun 2012
Durieux Anne-Cécile, Vassilopoulos Stéphane, Lainé Jeanne, Fraysse Bodvaël, Briñas Laura, Prudhon Bernard, Castells Josiane, Freyssenet Damien, Bonne Gisèle, Guicheney Pascale, Bitoun Marc
Abstract excerpt
Dynamin 2 (Dnm2) is involved in endocytosis and intracellular membrane trafficking through its function in vesicle formation from distinct membrane compartments. Heterozygous (HTZ) mutations in the DNM2 gene cause dominant centronuclear myopathy or Charcot-Marie-Tooth neuropathy. We generated a knock-in Dnm2R465W mouse model expressing the most frequent human mutation and recently reported that HTZ mice...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.