Browsing by Author "4f8fa6ea-b240-4329-bb2e-5755beb61dd7"

Now showing items 1-4 of 4

    • Centronuclear myopathy-causing mutations in dynamin-2 impair actin-dependent trafficking in muscle cells 
      González Jamett, Arlek M.; Báez Matus, Ximena; Bui, M.; Guicheney, R.; Romero, N. B.; Caviedes Fernández, Pablo; Bitoun, M.; Bevilacqua, Jorge; Cardenas, A. (Elsevier, 2017)
    • Defects in G-Actin Incorporation into Filaments in Myoblasts Derived from Dysferlinopathy Patients Are ... 
      Báez Matus, Ximena; Figueroa Cares, Cindel; González Jamett, Arlek M.; Almarza Salazar, Hugo; Arriagada, Christian; Maldifassi, María Constanza; Guerra, María José; Mouly, Vincent; Bigot, Anne; Caviedes Fernández, Pablo; Cárdenas, Ana M. (MDPI, 2020)
      Dysferlin is a transmembrane C-2 domain-containing protein involved in vesicle trafficking and membrane remodeling in skeletal muscle cells. However, the mechanism by which dysferlin regulates these cellular processes ...
    • 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 ...
    • RCAN1 knockdown reverts defects in the number of calcium-induced exocytotic events in a cellular model of ... 
      Vásquez Navarrete, Jacqueline; Martínez, Agustín; Ory, Stephane; Báez Matus, Ximena; González Jamett, Arlek M.; Brauchi, Sebastián; Caviedes, Pablo; Cárdenas, Ana María (Frontiers Media, 2018-07-06)
      In humans, Down Syndrome (DS) is a condition caused by partial or full trisomy of chromosome 21. Genes present in the DS critical region can result in excess gene dosage, which at least partially can account for DS phenotype. ...