dc.creatorGonzález Jamett, Arlek M.
dc.creatorAro Acuña, Valentina
dc.creatorMomboisse, Fanny
dc.creatorCaviedes Fernández, Pablo
dc.creatorBevilacqua, Jorge
dc.creatorCárdenas, Ana María
dc.date.accessioned2014-12-22T19:10:09Z
dc.date.accessioned2019-04-26T00:08:21Z
dc.date.available2014-12-22T19:10:09Z
dc.date.available2019-04-26T00:08:21Z
dc.date.created2014-12-22T19:10:09Z
dc.date.issued2014
dc.identifierJOURNAL OF NEUROCHEMISTRY | 2014 | 128 | 210–223
dc.identifierDOI: 10.1111/jnc.12455
dc.identifierhttp://repositorio.uchile.cl/handle/2250/129458
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/2433778
dc.description.abstractDynamin-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.languageen
dc.publisherInternational Society for Neurochemistry
dc.rightshttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
dc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
dc.subjectAlzheimer’s disease
dc.titleDynamin-2 nervous system disorders
dc.typeArtículos de revistas


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