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Authordc.contributor.authorGonzález Jamett, Arlek M. 
Authordc.contributor.authorAro Acuña, Valentina es_CL
Authordc.contributor.authorMomboisse, Fanny es_CL
Authordc.contributor.authorCaviedes Fernández, Pablo es_CL
Authordc.contributor.authorBevilacqua, Jorge es_CL
Authordc.contributor.authorCárdenas, Ana María es_CL
Admission datedc.date.accessioned2014-12-22T19:10:09Z
Available datedc.date.available2014-12-22T19:10:09Z
Publication datedc.date.issued2014
Cita de ítemdc.identifier.citationJOURNAL OF NEUROCHEMISTRY | 2014 | 128 | 210–223en_US
Identifierdc.identifier.otherDOI: 10.1111/jnc.12455
Identifierdc.identifier.urihttps://repositorio.uchile.cl/handle/2250/129458
General notedc.descriptionArtículo de publicación ISIen_US
Abstractdc.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.en_US
Patrocinadordc.description.sponsorshipFondecyt 1110552 (Chile); Proyecto Anillo ACT-1121 (CONICYT); Fondos ICM-ECONOMIA Project P09-022-F (Chile).en_US
Lenguagedc.language.isoenen_US
Publisherdc.publisherInternational Society for Neurochemistryen_US
Type of licensedc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile*
Link to Licensedc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/*
Keywordsdc.subjectAlzheimer’s diseaseen_US
Títulodc.titleDynamin-2 nervous system disordersen_US
Document typedc.typeArtículo de revista


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Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile