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

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 disease. METHODS: In this study, we have analyzed a m...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Mol Med
Main Authors: Valdés-Sánchez, Lourdes, Calado, Sofia M., de la Cerda, Berta, Aramburu, Ana, García-Delgado, Ana Belén, Massalini, Simone, Montero-Sánchez, Adoración, Bhatia, Vaibhav, Rodríguez-Bocanegra, Eduardo, Diez-Lloret, Andrea, Rodríguez-Martínez, Daniel, Chakarova, Christina, Bhattacharya, Shom S., Díaz-Corrales, Francisco J.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6938640/
https://ncbi.nlm.nih.gov/pubmed/31892304
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s10020-019-0124-z
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados