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dc.creatorGarcía Delgado, Ana Belénes
dc.creatorValdes Sanchez, Lourdeses
dc.creatorMorillo Sánchez, María Josées
dc.creatorPonte-Zuñiga, Beatrizes
dc.creatorDíaz-Corrales, Francisco J.es
dc.creatorCerda Haynes, Berta de laes
dc.date.accessioned2022-11-22T14:01:00Z
dc.date.available2022-11-22T14:01:00Z
dc.date.issued2021-05-17
dc.identifier.citationGarcía Delgado, A.B., Valdes Sanchez, L., Morillo Sánchez, M.J., Ponte-Zuñiga, B., Díaz-Corrales, F.J. y Cerda Haynes, B.d.l. (2021). Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy. Orphanet Journal of Rare Diseases, 16 (1), 222. https://doi.org/10.1186/s13023-021-01843-z.
dc.identifier.issn1750-1172es
dc.identifier.urihttps://hdl.handle.net/11441/139682
dc.description.abstractMutations in the EYS gene are one of the major causes of autosomal recessive retinitis pigmentosa. EYS-retinopathy presents a severe clinical phenotype, and patients currently have no therapeutic options. The progress in personalised medicine and gene and cell therapies hold promise for treating this degenerative disease. However, lack of understanding and incomplete comprehension of disease's mechanism and the role of EYS in the healthy retina are critical limitations for the translation of current technical advances into real therapeutic possibilities. This review recapitulates the present knowledge about EYS-retinopathies, their clinical presentations and proposed genotype–phenotype correlations. Molecular details of the gene and the protein, mainly based on animal model data, are analysed. The proposed cellular localisation and roles of this large multi-domain protein are detailed. Future therapeutic approaches for EYS-retinopathies are discussed.es
dc.formatapplication/pdfes
dc.format.extent14 p.es
dc.language.isoenges
dc.publisherBMCes
dc.relation.ispartofOrphanet Journal of Rare Diseases, 16 (1), 222.
dc.rightsAtribución 4.0 Internacional*
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/*
dc.subjectRetinal dystrophyes
dc.subjectEYSes
dc.subjectCiliopathyes
dc.subjectAnimal modelses
dc.subjectAdvanced therapieses
dc.titleDissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapyes
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 Cirugíaes
dc.contributor.affiliationUniversidad de Sevilla. Departamento de Farmacia y Tecnología Farmacéuticaes
dc.relation.projectIDPI-0099-2018es
dc.relation.publisherversionhttps://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01843-zes
dc.identifier.doi10.1186/s13023-021-01843-zes
dc.journaltitleOrphanet Journal of Rare Diseaseses
dc.publication.volumen16es
dc.publication.issue1es
dc.publication.initialPage222es
dc.contributor.funderConsejería de Salud, Igualdad y Políticas Sociales. Junta de Andalucíaes

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