dc.creator | González Jamett, Arlek M. | |
dc.creator | Aro Acuña, Valentina | |
dc.creator | Momboisse, Fanny | |
dc.creator | Caviedes Fernández, Pablo | |
dc.creator | Bevilacqua, Jorge | |
dc.creator | Cárdenas, Ana María | |
dc.date.accessioned | 2014-12-22T19:10:09Z | |
dc.date.accessioned | 2019-04-26T00:08:21Z | |
dc.date.available | 2014-12-22T19:10:09Z | |
dc.date.available | 2019-04-26T00:08:21Z | |
dc.date.created | 2014-12-22T19:10:09Z | |
dc.date.issued | 2014 | |
dc.identifier | JOURNAL OF NEUROCHEMISTRY | 2014 | 128 | 210–223 | |
dc.identifier | DOI: 10.1111/jnc.12455 | |
dc.identifier | http://repositorio.uchile.cl/handle/2250/129458 | |
dc.identifier.uri | http://repositorioslatinoamericanos.uchile.cl/handle/2250/2433778 | |
dc.description.abstract | Dynamin-2 is a pleiotropic GTPase whose best-known function
is related to membrane scission during vesicle budding
from the plasma or Golgi membranes. In the nervous system,
dynamin-2 participates in synaptic vesicle recycling, postsynaptic
receptor internalization, neurosecretion, and neuronal
process extension. Some of these functions are shared with
the other two dynamin isoforms. However, the involvement of
dynamin-2 in neurological illnesses points to a critical function
of this isoform in the nervous system. In this regard, mutations
in the dynamin-2 gene results in two congenital neuromuscular
disorders. One of them, Charcot-Marie-Tooth disease, affects
myelination and peripheral nerve conduction, whereas the
other, Centronuclear Myopathy, is characterized by a progressive
and generalized atrophy of skeletal muscles, yet it is also
associated with abnormalities in the nervous system. Furthermore,
single nucleotide polymorphisms located in the dynamin-
2 gene have been associated with sporadic Alzheimer’s
disease. In the present review, we discuss the pathogenic
mechanisms implicated in these neurological disorders. | |
dc.language | en | |
dc.publisher | International Society for Neurochemistry | |
dc.rights | http://creativecommons.org/licenses/by-nc-nd/3.0/cl/ | |
dc.rights | Attribution-NonCommercial-NoDerivs 3.0 Chile | |
dc.subject | Alzheimer’s disease | |
dc.title | Dynamin-2 nervous system disorders | |
dc.type | Artículos de revistas | |