Arlek González
Young Investigator at Centro Interdisciplinario de Neurociencia de Valparaíso
Ph.D. in Neuroscience, Universidad de Valparaíso, Chile.
Graduate in Biochemist, Pontificia Universidad Católica de Valparaíso, Chile.
Contact information:
E-mail: arlek.gonzalez@cinv.cl
Pasaje Harrington 287 Playa Ancha. Valparaíso, Chile.
Phone: (56)-(32)-2508040
Hereditary myopathies (HM) are inherited disorders primarily affectin skeletal muscle tissue . HM are caused by mutations in different genes that encode proteins important for muscle structure and function. Mutations in dynamin-2, an ubiquitously expressed large GTP-ase implicated in several cellular processes including membrane trafficking and actin cytoskeleton dynamics, are linked to Centronuclear Myopathy (CNM) one of the most prevalent HM. Although the last two decades there has been much advanced in understanding how CNM-causing mutations affect dynamin-2 function in vitro, little is known about the impact of these mutations in dynamin-2 function in the tissues where it is expressed. My current research is focused in to understand how CNM-linked mutations affect dynamin-2 function in membrane trafficking and actin remodeling in skeletal muscles and central nervous system using animal models of the disease.
- González-Jamett AM, Baéz-Matus X, Olivares MJ, Hinostroza, F, Guerra-Fernandez MJ, Vasquez-Navarrete J, Thao-Bui M, Guicheney, P; Romero NB; Bevilacqua J; Bitoun M; Caviedes P; Cárdenas AM (2017) Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent vesicle trafficking in muscle cells, SCI REP 7:4580 DOI:10.1038/s41598-017-04418-w.
- González-Jamett AM, Haro-Acuña V, Momboisse F, Caviedes P, Bevilacqua JA, Cardenas AM (2014) Dynamin-2 in nervous system disorders. J. Neurochem 4: 126 (DOI: 10.1111/jnc.12455).
- González-Jamett AM, Momboisse F, Haro-Acuña V, Bevilacqua JA, Caviedes P, Cardenas AM (2013) Dynamin-2 function and dysfunction along the secretory pathway. Front. Endocrinol. (Lausanne), 4: 126 (DOI: 10.3389/fendo.2013.00126).
- González-Jamett AM, Momboisse F, Guerra MJ, Ory S, Báez-Matus X, et al. (2013) Dynamin-2 regulates fusion pore expansion and quantal release through a mechanism that involves actin dynamics in neuroendocrine chromaffin cells. PLoS One 8: e70638.
- Gonzalez-Jamett AM, Báez-Matus X, Hevia MA, Guerra MJ, Olivares MJ, Martínez AD, Neely A, Cárdenas AM (2010) The association of dynamin with synaptophysin regulates quantal size and duration of exocytotic events in chromaffin cells. J. Neurosci. 30: 10683 – 10691.
