Listar por autor 

Listar por autor

Mostrando publicaciones 1-2 de 2

  • Dynamin‑2 R465W mutation induces long range perturbation in highly ordered oligomeric structures 

    Hinostroza, Fernando; Neely, Alan; Araya‑Duran, Ingrid; Marabolí, Vanessa; Canan, Jonathan; Rojas, Maximiliano; Aguayo, Daniel; Latorre, Ramón; González‑Nilo, Fernando D.; Cárdenas, Ana M. (2020)
    High order oligomers are crucial for normal cell physiology, and protein function perturbed by missense mutations underlies several autosomal dominant diseases. Dynamin-2 is one of such protein forming helical oligomers ...

  • Gain-of-function dynamin-2 mutations linked to centronuclear myopathy impair ca2+-induced exocytosis in human myoblasts 

    Bayonés, Lucas; Guerra-Fernández, María José; Hinostroza, Fernando; Báez-Matus, Ximena; Vásquez-Navarrete, Jacqueline; Gallo, Luciana I; Parra, Sergio; Martínez, Agustín D.; González-Jamett, Arlek; Marengo, Fernando D.; Cárdenas, Ana M. (2022)
    Gain-of-function mutations of dynamin-2, a mechano-GTPase that remodels membrane and actin filaments, cause centronuclear myopathy (CNM), a congenital disease that mainly affects skeletal muscle tissue. Among these ...