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Artículo
Generation of a human iPS cell line from a patient with retinitis pigmentosa due to EYS mutation
(Elsevier, 2018-11-16)
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 ...
Artículo
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
(Oxford University Press, 2016)
Recent results from large-scale genomic projects suggest that allele frequencies, which are highly relevant for medical purposes, differ considerably across different populations. The need for a detailed catalog of local ...
Artículo
Highly efficient neural conversion of human pluripotent stem cells in adherent and animal-free conditions
(Wiley, 2017)
Neural differentiation of human embryonic stem cells (hESCs) and induced pluripotent stem cells (hiPSCs) can produce a valuable and robust source of human neural cell subtypes, holding great promise for the study of ...
Artículo
Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins
(BMC (part of Springer Nature), 2020)
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 ...
Artículo
Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa
(Nature Publishing Group, 2016)
PRPF31-associated retinitis pigmentosa presents a fascinating enigma: some mutation carriers are blind, while others are asymptomatic. We identify the major molecular cause of this incomplete penetrance through three ...
Artículo
TOPORS, a dual E3 ubiquitin and Sumo1 ligase, interacts with 26 S protease regulatory subunit 4, encoded by the PSMC1 gene
(Public Library of Science, 2016)
The significance of the ubiquitin-proteasome system (UPS) for protein degradation has been highlighted in the context of neurodegenerative diseases, including retinal dystrophies. TOPORS, a dual E3 ubiquitin and SUMO1 ...