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dc.creatorPérez Villegas, Eva Maríaes
dc.creatorRuiz Laza, Rocíoes
dc.creatorBachiller, Saraes
dc.creatorVentura, Francesces
dc.creatorArmengol, Jose A.es
dc.creatorRosa, Jose Luises
dc.date.accessioned2022-01-27T14:33:53Z
dc.date.available2022-01-27T14:33:53Z
dc.date.issued2021
dc.identifier.citationPérez Villegas, E.M., Ruiz Laza, R., Bachiller, S., Ventura, F., Armengol, J.A. y Rosa, J.L. (2021). The HERC proteins and the nervous system. Seminars in Cell and Developmental Biology
dc.identifier.issn1084-9521es
dc.identifier.issn1096-3634es
dc.identifier.urihttps://hdl.handle.net/11441/129317
dc.description.abstractThe HERC protein family is one of three subfamilies of Homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases. Six HERC genes have been described in humans, two of which encode Large HERC proteins -HERC1 and HERC2- with molecular weights above 520 kDa that are constitutively expressed in the brain. There is a large body of evidence that mutations in these Large HERC genes produce clinical syndromes in which key neurodevelopmental events are altered, resulting in intellectual disability and other neurological disorders like epileptic seizures, dementia and/or signs of autism. In line with these consequences in humans, two mice carrying mutations in the Large HERC genes have been studied quite intensely: the tambaleante mutant for Herc1 and the Herc2+/530 mutant for Herc2. In both these mutant mice there are clear signs that autophagy is dysregulated, eliciting cerebellar Purkinje cell death and impairing motor control. The tambaleante mouse was the first of these mice to appear and is the best studied, in which the Herc1 mutation elicits: (i) delayed neural transmission in the peripheral nervous system; (ii) impaired learning, memory and motor control; and (iii) altered presynaptic membrane dynamics. In this review, we discuss the information currently available on HERC proteins in the nervous system and their biological activity, the dysregulation of which could explain certain neurodevelopmental syndromes and/or neurodegenerative diseases.es
dc.description.sponsorshipMinisterio de Economía y Competitividad SAF2015-64171-Res
dc.formatapplication/pdfes
dc.format.extent11 p.es
dc.language.isoenges
dc.publisherElsevieres
dc.relation.ispartofSeminars in Cell and Developmental Biology
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subject(4–6 words) autophagyes
dc.subjectHERCes
dc.subjectNeurodegenerationes
dc.subjectNeurodevelopmentes
dc.subjectSynapseses
dc.subjectUbiquitines
dc.titleThe HERC proteins and the nervous systemes
dc.typeinfo:eu-repo/semantics/articlees
dcterms.identifierhttps://ror.org/03yxnpp24
dc.type.versioninfo:eu-repo/semantics/publishedVersiones
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Bioquímica y Biología Moleculares
dc.relation.projectIDBFU2011-27207es
dc.relation.projectIDBFU2015-64536-Res
dc.relation.projectIDSAF2015-64171-Res
dc.relation.projectIDPID2020-120344RB-I00es
dc.relation.projectID10.13039/501100011033es
dc.relation.publisherversionhttps://doi.org/10.1016/j.semcdb.2021.11.017es
dc.identifier.doi10.1016/j.semcdb.2021.11.017es
dc.journaltitleSeminars in Cell and Developmental Biologyes
dc.contributor.funderDirección General de Investigación Científica y Técnica (DGICYT). España BFU2011-27207, BFU2015-64536-Res
dc.contributor.funderAgencia Estatal de Investigación. España PID2020-120344RB-I00, 10.13039/501100011033es

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