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...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Mol Med
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2019
Pynciau:
Research Article
Mynediad Ar-lein: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
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