Back to search

Article

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

2026-04-16

Abstract excerpt

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 stages. Here, we utilised patie...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
bea005d6-8f23-5782-8716-8d639449e75b
DOI
10.64898/2026.04.14.718379
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by <i>PRPF31</i> .AAV gene therapyDOI 10.64898/2026.04.14.718379
Cell-autonomous restoration of splicing homeostasis and RP11 phenotype in patient-derived RPE and retinal organoids by PRPF31.AAV gene therapySemantic proximity
Progressive protein aggregation in PRPF31 patient retinal pigment epithelium cells: the mechanism and its reversal through activation of autophagySemantic proximity
AAV-mediated gene augmentation therapy restores critical functions in mutant iPSC-derived PRPF31 <sup>+/-</sup> cellsSemantic proximity
Human iPSC-derived RPE and retinal organoids reveal impaired alternative splicing of genes involved in pre-mRNA splicing in PRPF31 autosomal dominant retinitis pigmentosaSemantic proximity
Single Cell Transcriptomics on PRPF31 Retinal Organoids Reveal Early Müller Glial Activation and Progressive Photoreceptor DegenerationSemantic proximity
Retinal Organoid Single-Cell Transcriptomics Reveals Effects of PRPF31 Mutation on Early Müller Glial Activation and Progressive Photoreceptor DegenerationSemantic proximity
PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation.Semantic proximity
PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects.Semantic proximity
Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and BeyondSemantic proximity
PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defectsSemantic proximity
The RNA content of extracellular vesicles from <i>PRPF31</i> <sup>+/−</sup> hiPSC-RPE show potential as biomarkers of retinal degenerationSemantic proximity
PRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing.Semantic proximity
Select a neighboring publication to make it the new centre.