Browsing by Author "fca82254-bc0a-4318-afb2-8412cdb42928"

Now showing items 1-3 of 3

    • Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis 
      Bitoun, Marc; Durieux, Anne Cécile; Prudhon, Bernard; Bevilacqua, Jorge; Herledan, Adrien; Sakanyan, Vehary; Urtizberea, Andoni; Cartier Rovirosa, Luis; Romero, Norma B.; Guicheney, Pascale (2009)
      Dynamin 2 (DNM2) is a large GTPase involved in the release of nascent vesicles during endocytosis and intracellular membrane trafficking. Distinct DNM2 mutations, affecting the middle domain (MD) and the Pleckstrin homology ...
    • Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells 
      González Jamett, Arlek M.; Báez Matus, Ximena; Olivares, María José; Hinostroza, Fernando; Guerra Fernández, María José; Vásquez Navarrete, Jacqueline; Bui, Mai Thao; Guicheney, Pascale; Romero, Norma; Bevilacqua, Jorge; Bitoun, Marc; Caviedes Fernández, Pablo; Cárdenas, Ana María (Nature Publishing Group, 2017)
      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 ...
    • "Necklace" fibers, a new histological marker of late-onset MTM1- related centronuclear myopathy 
      Bevilacqua, Jorge; Bitoun, Marc; Biancalana, Valérie; Oldfors, Anders; Stoltenburg, Gisela; Claeys, Kristl G.; Lacène, Emmanuelle; Brochier, Guy; Manéré, Linda; Laforêt, Pascal; Eymard, Bruno; Guicheney, Pascale; Fardeau, Michel; Romero, Norma Beatriz (Springer Verlag, 2009)
      Mutations in the gene encoding the phosphoinositide phosphatase myotubularin 1 protein (MTM1) are usually associated with severe neonatal X-linked myotubular myopathy (XLMTM). However, mutations in MTM1 have also been ...