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ProteomicsTargeted antisense oligonucleotide therapy rescues PRPF31 expression in retinitis pigmentosa caused by a splicing mutation
Pathogenic variants in splicing factors are the second most common cause of autosomal dominant retinitis pigmentosa (RP), with mutations in PRPF31 being the most prevalent. Here, we characterize a novel intronic variant in PRPF31 (c.1074-11C>G) that creates a cryptic 3′ splice site, resulting in an ...
ORGANISM(S): Homo sapiens (Human) 
2026-06-12 | PXD071251 | Pride
Prpf31 Cryptic splice site Aso treatment Retinitis pigmentosa Aberrant splicing 
TranscriptomicsZebrafish (Danio rerio) 72hpf, WT control vs. MO-Prpf31 injected
Transcriptional profiling performed from total eye RNA extracts of wildtype control fishes versus Prpf31 morpholino injected larvae (at ~72hpf) two-condition experiment: wildtype zebrafish versus MO-Prpf31 injected zebrafish eye RNA; 6 replicates each (extraction from 6 pools (~200 eyes each) of con...
ORGANISM(S): Danio rerio 
2010-05-06 | E-GEOD-20424 | biostudies-arrayexpress
ProteomicsInteractome of Prpf31 Wild-type and A216P
The PAQosome is composed of the HSP90/R2TP chaperone and a prefoldin-like module. It promotes the biogenesis of cellular machineries but it is unclear how it discriminates closely related client proteins. Among the main PAQosome clients are C/D snoRNPs and in particular their core protein NOP58. Usi...
ORGANISM(S): Homo sapiens (Human) 
2020-12-14 | PXD019390 | Pride
Apms  prpf31  silac 
TranscriptomicsThe splicing factor Prpf31 is required for hematopoietic stem and progenitor cell expansion during zebrafish embryogenesis
Pre-mRNA splicing is a precise regulated process, and is crucial for system development and homeostasis maintenance. Mutations in spliceosomal components have been found in various hematopoietic malignancies (HMs), and have been considered as oncogenic derivers of HMs. However, the role of spliceoso...
ORGANISM(S): Danio rerio 
2022-04-07 | GSE171661 | GEO
GenomicsThe splicing factor Prpf31 is required for hematopoietic stem and progenitor cell expansion during zebrafish embryogenesis
The splicing factor Prpf31 is required for hematopoietic stem and progenitor cell expansion during zebrafish embryogenesis
PRJNA720429 | ENA
GenomicsPrpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing
Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing
PRJNA635369 | ENA
TranscriptomicsPrpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing
Dysfunction of splicing factors often result in abnormal cell differentiation and apoptosis, especially in neural tissues. Mutations in pre-mRNAs processing factor 31 (PRPF31) cause autosomal dominant retinitis pigmentosa, a progressive retinal degeneration disease. The transcriptome-wide splicing e...
ORGANISM(S): Danio rerio 
2021-01-06 | GSE151273 | GEO
TranscriptomicsZebrafish (Danio rerio) 72hpf, WT control vs. MO-Prpf31 injected
Transcriptional profiling performed from total eye RNA extracts of wildtype control fishes versus Prpf31 morpholino injected larvae (at ~72hpf)
ORGANISM(S): Danio rerio 
2010-03-01 | GSE20424 | GEO
TranscriptomicsEstablishing AAV.PRPF31 gene augmentation in PRPF31-deficient RPE and photoreceptor cells and assessing its efficacy in restoring RPE and photoreceptor function
Purpose Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterised by progressive degeneration of the mid-peripheral retina, leading to night blindness and eventual loss of visual acuity. RP11, caused by mutations in the pre-mRNA processing factor 31 (PRPF31) gene, involved in...
ORGANISM(S): Homo sapiens 
2026-08-16 | GSE309908 | GEO
TranscriptomicsModeling PRPF31 retinitis pigmentosa using iPSC-derived retinal organoids and retinal pigmented epithelium and rescue by gene augmentation strategy
Mutations in the ubiquitously expressed pre-mRNA processing factor (PRPF) 31, one of the most common cause of dominant form of Retinitis Pigmentosa (RP), lead to retina-specific phenotype. It is uncertain which retinal cell types are affected and animal models do not clearly present the RP phenotype...
ORGANISM(S): Homo sapiens 
2022-08-01 | GSE206529 | GEO
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