Valdés Sánchez, LourdesCalado, Sofía M.Cerda, Berta De laAramburu, AnaGarcía Delgado, Ana BelénMassalini, SimoneMontero Sánchez, AdoraciónBhatia, VaibhavRodríguez Bocanegra, EduardoDiez Lloret, AndreaRodríguez Martínez, DanielChakarova, ChristinaBhattacharya, Shomi S.Díaz Corrales, Francisco Javier2020-05-122020-05-122020Valdés Sánchez, L., Calado, S.M., Cerda, B.D.l., Aramburu, A., García Delgado, A.B., Massalini, S.,...,Díaz Corrales, F.J. (2020). Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins. Molecular Medicine, 26 (1), 1-22.1076-1551 (impreso)1528-3658 (electrónico)https://hdl.handle.net/11441/96461Mutations 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.application/pdf22 p.engAttribution-NonCommercial-NoDerivatives 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc-nd/4.0/HSP70PRPF31Retinal degenerationRetinal pigment epitheliumRetinitis pigmentosainfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccesshttps://doi.org/10.1186/s10020-019-0124-z