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dc.contributor.authorGonzalez, Jose M 
dc.contributor.authorPla, Davinia
dc.contributor.authorPerez-Sala, Dolores
dc.contributor.authorAndres, Vicente 
dc.date.accessioned2019-05-23T08:44:59Z
dc.date.available2019-05-23T08:44:59Z
dc.date.issued2011-06-01
dc.identifier.citationFront Biosci (Schol Ed). 2011; 3:1133-46es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/7658
dc.description.abstractLamin A and lamin C (A-type lamins, both encoded by the LMNA gene) are major components of the mammalian nuclear lamina, a complex proteinaceous structure that acts as a scaffold for protein complexes that regulate nuclear structure and function. Abnormal accumulation of farnesylated-progerin, a mutant form of prelamin A, plays a key role in the pathogenesis of the Hutchinson-Gilford progeria syndrome (HGPS), a devastating disorder that causes the death of affected children at an average age of 13.5 years, predominantly from premature atherosclerosis and myocardial infarction or stroke. Remarkably, progerin is also present in normal cells and appears to progressively accumulate during aging of non-HGPS cells. Therefore, understanding how this mutant form of lamin A provokes HGPS may shed significant insight into physiological aging. In this review, we discuss recent advances into the pathogenic mechanisms underlying HGPS, the main murine models of the disease, and the therapeutic strategies developed in cellular and animal models with the aim of reducing the accumulation of farnesylated-progerin, as well as their use in clinical trials of HGPS.es_ES
dc.description.sponsorshipV.A.’s lab is funded by the Spanish Ministry of Science and Innovation (MICINN) and the Fondo Europeo de Desarrollo Regional (FEDER) (grant SAF2007-62110), the Instituto de Salud Carlos III (ISCIII) (RECAVA, grant RD06/0014/0021), the Fundación Ramón Areces and Fina Biotech. D.P.-S. laboratory is supported by grants from the MICINN (SAF2009-11642) and ISCIII (Retics RIRAAF, RD07/0064/0007). J.M.G. is supported by the ISCIII and D.P. by the FPI programme of MICINN. The CNIC is supported by the MICINN and the Pro-CNIC Foundation.es_ES
dc.language.isoenges_ES
dc.relation.isversionofPostprintes_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subject.meshAnimals es_ES
dc.subject.meshContracture es_ES
dc.subject.meshFarnesyltranstransferase es_ES
dc.subject.meshGenetic Therapy es_ES
dc.subject.meshHumans es_ES
dc.subject.meshLamin Type A es_ES
dc.subject.meshMice es_ES
dc.subject.meshModels, Biologicales_ES
dc.subject.meshNuclear Lamina es_ES
dc.subject.meshNuclear Proteins es_ES
dc.subject.meshProgeria es_ES
dc.subject.meshProtein Precursors es_ES
dc.subject.meshSkin Abnormalities es_ES
dc.titleA-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapyes_ES
dc.typeArtículoes_ES
dc.rights.licenseAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.identifier.pubmedID21622261es_ES
dc.format.volume3es_ES
dc.format.page1133-46es_ES
dc.identifier.doi10.2741/216es_ES
dc.contributor.funderMinisterio de Ciencia e Innovación (España)es_ES
dc.contributor.funderEuropean Regional Development Fund (ERDF/FEDER)es_ES
dc.contributor.funderInstituto de Salud Carlos III - ISCIIIes_ES
dc.contributor.funderFundación ProCNICes_ES
dc.description.peerreviewedes_ES
dc.identifier.e-issn1945-0524es_ES
dc.relation.publisherversionhttps://doi.org/10.2741/216es_ES
dc.identifier.journalFrontiers in bioscience (Scholar edition)es_ES
dc.repisalud.orgCNICCNIC::Grupos de investigación::Fisiopatología Cardiovascular Molecular y Genéticaes_ES
dc.repisalud.institucionCNICes_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/SAF2007-62110es_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/RD06/0014/0021es_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/SAF2009-11642es_ES
dc.relation.projectIDinfo:eu-repo/grantAgreement/ES/RD07/0064/0007es_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES


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Attribution-NonCommercial-NoDerivatives 4.0 Internacional
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