Research graph
References from From splice defect to therapeutic opportunity: Insights from PRPF31. Local targets link to admitted publications; unresolved targets remain external evidence.
Inherited retinal degenerations: clinical phenotypes and emerging therapies
10.1016/s0140-6736(26)00766-x · 2026 · External reference
Targeted antisense oligonucleotide therapy rescues PRPF31 expression in retinitis pigmentosa caused by a splicing mutation
10.1016/j.ymthe.2026.05.033 · 2026 · External reference
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11)
10.1016/s1097-2765(01)00305-7 · 2001 · External reference
Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy (2020)
10.1016/j.exer.2020.107950 · 2020 · External reference
AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31(+/-) iPSC-Derived RPE Cells
10.1016/j.omtm.2019.10.014 · 2019 · External reference
Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa
10.1038/s41467-022-35361-8 · 2022 · External reference
Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue
10.1038/s41536-022-00235-6 · 2022 · External reference
A Phase 1B Multiple Ascending Dose Study of VP-001; a peptide conjugate of oligonucleotide designed to treat PRPF31-related Retinitis Pigmentosa
2026 · External reference
A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31
10.3390/ijms25063391 · 2024 · External reference
Antisense oligonucleotides for inherited retinal diseases: a comprehensive review
10.1016/j.mam.2025.101416 · 2025 · External reference
