Please use this identifier to cite or link to this item: http://hdl.handle.net/10668/4094
Title: Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy
Authors: Garcia-Delgado, Ana B.
Valdes-Sanchez, Lourdes
Morillo-Sanchez, Maria Jose
Ponte-Zuñiga, Beatriz
Diaz-Corrales, Francisco J.
de la Cerda, Berta
metadata.dc.contributor.authoraffiliation: [Garcia-Delgado,AB; Valdes-Sanchez,L; Diaz-Corrales,FJ; de la Cerda,B] Andalusian Center for Molecular Biology and Regenerative Medicine (CABIMER), Seville, Spain. [Morillo-Sanchez,MJ; Ponte-Zuñiga,B] Department of Ophthalmology, University Hospital Virgen Macarena, Seville, Spain. [Ponte-Zuñiga,B] Retics Oftared, Institute of Health Carlos III, Madrid, Spain
Keywords: Retinal dystrophy;EYS;Ciliopathy;Animal models;Advanced therapies;Mutations;Retinal degeneration;Retinitis pigmentosa;Distrofias retinianas;Ciliopatías;Modelos animales;Mutación;Degeneración retiniana
metadata.dc.subject.mesh: Medical Subject Headings::Organisms::Eukaryota::Animals
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA::DNA Mutational Analysis
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Diagnostic Techniques and Procedures::Diagnostic Techniques, Ophthalmological::Electroretinography
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Eye Proteins
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
Medical Subject Headings::Diseases::Eye Diseases::Retinal Diseases::Retinal Degeneration
Medical Subject Headings::Diseases::Eye Diseases::Eye Diseases, Hereditary::Retinitis Pigmentosa
Medical Subject Headings::Psychiatry and Psychology::Psychological Phenomena and Processes::Mental Processes::Cognition::Comprehension
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Phenotype
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies
Medical Subject Headings::Anatomy::Sense Organs::Eye::Retina
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Models, Animal
Issue Date: 17-May-2021
Publisher: BMC, Springer Nature
Citation: Garcia-Delgado AB, Valdes-Sanchez L, Morillo-Sanchez MJ, Ponte-Zuñiga B, Diaz-Corrales FJ, de la Cerda B. Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy. Orphanet J Rare Dis. 2021 May 17;16(1):222.
Abstract: Mutations 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.
URI: http://hdl.handle.net/10668/4094
metadata.dc.relation.publisherversion: https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01843-z
metadata.dc.identifier.doi: 10.1186/s13023-021-01843-z
ISSN: 1750-1172 (Online)
Appears in Collections:01- Artículos - CABIMER. Centro Andaluz de Biología Molecular
01- Artículos - Hospital Virgen Macarena

Files in This Item:
File Description SizeFormat 
GarciaDelgado_DissectingThe.pdfRevisión1,81 MBAdobe PDFView/Open


This item is protected by original copyright



This item is licensed under a Creative Commons License Creative Commons