Browsing by Subject "Dysferlin"

Now showing items 1-3 of 3

    • Analysis of the DYSF Mutational Spectrum in a Large Cohort of Patients 
      Krahn, Martin; Béroud, Christophe; Labelle, Véronique; Nguyen, Karine; Bernard, Rafaëlle; Bassez, Guillaume; Figarella-Branger, Dominique; Fernández, Carla; Bouvenot, Julien; Richard, Isabelle; Ollagnon-Roman, Elisabeth; Bevilacqua, Jorge; Salvo, Eric; Attarian, Shahram; Chapon, Françoise; Pellissier, Jean-François; Pouget, Jean; Hammouda, El Hadi; Laforêt, Pascal; Urtizberea, Jon Andoni; Eymard, Bruno; Leturcq, France; Lévy, Nicolas (WILEY-LISS, 2008)
    • 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 ...
    • N-Acetylcysteine Reduces Skeletal Muscles Oxidative Stress and Improves Grip Strength in Dysferlin-Deficient ... 
      García Campos, Paz; Báez Matus, Ximena; Jara Gutiérrez, Carlos; Paz Araos, Marilyn; Astorga, César; Cea, Luis A.; Rodríguez, Viviana; Bevilacqua, Jorge A.; Caviedes, Pablo; Cárdenas, Ana M. (MDPI, 2020)
      Dysferlinopathy is an autosomal recessive muscular dystrophy resulting from mutations in the dysferlin gene. Absence of dysferlin in the sarcolemma and progressive muscle wasting are hallmarks of this disease. Signs of ...