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

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.

Detalles Bibliográficos
Autores: Valdés Sánchez, Lourdes, Calado, Sofía M., Cerda, Berta De la, 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, Shomi S., Díaz Corrales, Francisco Javier
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2020
País:España
Institución:Universidad de Sevilla (US)
Repositorio:idUS. Depósito de Investigación de la Universidad de Sevilla
OAI Identifier:oai:idus.us.es:11441/96461
Acceso en línea:https://hdl.handle.net/11441/96461
https://doi.org/10.1186/s10020-019-0124-z
Access Level:acceso abierto
Palabra clave:HSP70
PRPF31
Retinal degeneration
Retinal pigment epithelium
Retinitis pigmentosa
Descripción
Sumario: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.

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