Elton J. R. Vasconcelos

Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapy

Abstract Mutations in the PRPF31 gene cause retinitis pigmentosa type 11 (RP11), a progressive blinding disease triggered by defects in the spliceosome, the cellular machinery responsible for RNA processing. Although gene replacement holds therapeutic promise, it remains unclear...