Article

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

2026-05-19

Abstract excerpt

<title>Abstract</title> Mutations in PRPF31 gene cause retinitis pigmentosa type 11 (RP11) through haploinsufficiency, impairing spliceosome assembly and triggering progressive retinal degeneration. While gene augmentation holds therapeutic promise, key questions remain regarding the mechanistic basis of rescue and its therapeutic efficacy across all primarily affected human retinal cell types and disease stag...

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Literature Corpus work: da91cc56-6254-560c-9552-8e46807a4e25
DOI: 10.21203/rs.3.rs-9408171/v1

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