Now showing items 1-6 of 6

    • 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)
    • 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 ...
    • 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 ...
    • 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 ...
    • García Campos, Paz; Báez Matus, Ximena; Jara Gutiérrez, Carlos; Paz Araos, Marilyn; Astorga, César; Cea, Luis A.; Pedroza Rodríguez, Viviana; Bevilacqua, Jorge Alfredo; Caviedes Fernández, 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 ...
    • 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. ...