Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy

Autor: Berta de la Cerda, María José Morillo-Sánchez, Lourdes Valdés-Sánchez, Beatriz Ponte-Zuñiga, Ana B. García-Delgado, Francisco J. Diaz-Corrales

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

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 gen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bae9058f62c3157b8aff83d2eccead5d
http://europepmc.org/articles/PMC8127272

Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins

Autor: Francisco J. Diaz-Corrales, Simone Massalini, Sofia Calado, Lourdes Valdés-Sánchez, Eduardo Rodríguez-Bocanegra, Christina Chakarova, Andrea Díez-Lloret, Daniel Rodriguez-Martinez, Ana B. García-Delgado, Berta de la Cerda, Vaibhav Bhatia, S. S. Bhattacharya, Ana Aramburu, Adoración Montero-Sánchez

Publikováno v: Molecular Medicine, Vol 26, Iss 1, Pp 1-22 (2019)
idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
idUS: Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
Digital.CSIC. Repositorio Institucional del CSIC
Molecular Medicine

Background Mutations in pre-mRNA splicing factor PRPF31 can lead to retinitis pigmentosa (RP). Although the exact disease mechanism remains unknown, it has been hypothesized that haploinsufficiency might be involved in the pathophysiology of the dise

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::964631801241fe2973ed5cd9cc77a5d7
https://doi.org/10.1186/s10020-019-0124-z

Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene

Autor: Laura Vallés-Saiz, Berta de la Cerda, Francisco J. Diaz-Corrales, Beatriz Ponte, Marina Moya-Molina, Andrea Díez-Lloret, Ana B. García-Delgado, S. S. Bhattacharya, Sofia Calado, Eduardo Rodríguez-Bocanegra

Publikováno v: Stem Cell Research, Vol 36, Iss, Pp-(2019)
Digital.CSIC. Repositorio Institucional del CSIC
instname

PRPF31 gene codes for a ubiquitously expressed splicing factor but mutations affect exclusively the retina, producing the progressive death of photoreceptor cells. We have identified a novel PRPF31 mutation in a patient with autosomal dominant retini

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411005eb044e798729a47d669e853709
https://pubmed.ncbi.nlm.nih.gov/30921587

The Resveratrol Prodrug JC19 Delays Retinal Degeneration in rd10 Mice

Autor: Lourdes Valdés-Sánchez, Francisco J. Diaz-Corrales, S. S. Bhattacharya, Adoración Montero-Sánchez, Ricardo Lucas, Pablo Peñalver, Ana B. García-Delgado, Berta de la Cerda, Juan Carlos Morales

Publikováno v: Retinal Degenerative Diseases ISBN: 9783030273774
Digital.CSIC. Repositorio Institucional del CSIC
instname

It has been reported that resveratrol (RES) has a therapeutic effect in different neurodegenerative and ocular diseases. However, RES is rapidly eliminated from the organism, and high doses need to be administered resulting in potential toxic side ef

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c7c7c45f20e644017c51fb980fe530b
https://doi.org/10.1007/978-3-030-27378-1_75

Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation

Autor: S. S. Bhattacharya, Ana B. García-Delgado, Francisco J. Diaz-Corrales, Sofia Calado, Beatriz Ponte-Zuñiga, Berta de la Cerda

Publikováno v: idUS. Depósito de Investigación de la Universidad de Sevilla
instname
Digital.CSIC. Repositorio Institucional del CSIC
Stem Cell Research, Vol 33, Iss, Pp 251-254 (2018)

Retinitis pigmentosa (RP) is an inherited retinal degenerative disease. Mutations in EYS have been associated with autosomal recessive RP. The human iPS cell line, CABi002-A, derived from peripheral blood mononuclear cells from a patient carrying a h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::739737ace276f223456b2fb86998b5b1