Article

Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosa

2017-12-11

Abstract excerpt

<h4>Summary</h4> Mutations in pre-mRNA processing factors (PRPFs) cause 40% of autosomal dominant retinitis pigmentosa (RP), but it is unclear why mutations in ubiquitously expressed PRPFs cause retinal disease. To understand the molecular basis of this phenotype, we have generated RP type 11 (PRPF31- mutated) patient-specific retinal organoids and retinal pigment epithelium (RPE) from induced pluripotent stem c...

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Literature Corpus work: fa0c5e6f-46c2-5e97-9136-9c2f7b916f56
DOI: 10.1101/232397

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