Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.
Lourdes Valdés-SánchezSofia M CaladoBerta de la CerdaAna AramburuAna Belén García-DelgadoSimone MassaliniAdoración Montero-SánchezVaibhav BhatiaEduardo Rodríguez-BocanegraAndrea Diez-LloretDaniel Rodríguez-MartínezChristina ChakarovaShom S BhattacharyaFrancisco-Javier Díaz-CorralesPublished in: Molecular medicine (Cambridge, Mass.) (2019)
Our data suggests that a mechanism haploinsufficiency and dominant-negative is involved in retinal degeneration due to mutations in PRPF31. HSP70 over-expression might be a new therapeutic target for the treatment of retinal degeneration due to PRPF31 mutations.