Article
Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.
Molecular medicine (Cambridge, Mass.) - 31 Dec 2019
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
Abstract excerpt
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 mouse model containing the p.A216P mutation in Prpf31 gene. RESULTS: We found that mutant Prpf31 protein produces...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.