ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2005
Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
42 citing papers in PubMed, 71 citations in OpenAlex.
- Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing.Cellular and molecular life sciences : CMLS · 2025Review
- PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation.Vision research · 2023Review
- Retinitis pigmentosa-associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule cells.Life science alliance · 2023Article
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- Retinitis Pigmentosa: Progress in Molecular Pathology and Biotherapeutical Strategies.International journal of molecular sciences · 2022Review
- Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations.Frontiers in genetics · 2022Article
- Article
- Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing.Nucleic acids research · 2021Article
- Mutations in the splicing regulator Prp31 lead to retinal degeneration inBiology open · 2021Article
- Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and Beyond.Frontiers in cell and developmental biology · 2021Review
- Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa.Molecular genetics & genomic medicine · 2020Article
- Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Experimental eye research · 2020Review
- Article
- Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.Molecular medicine (Cambridge, Mass.) · 2019Article
- AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31Molecular therapy. Methods & clinical development · 2019Article
- A CombinedFrontiers in genetics · 2019Article
- Differential stability of variantMolecular vision · 2019Article
- A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance.Documenta ophthalmologica. Advances in ophthalmology · 2018Article
- Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa.Japanese journal of ophthalmology · 2018Article
- Assembly of the U5 snRNP component PRPF8 is controlled by the HSP90/R2TP chaperones.The Journal of cell biology · 2017Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 3 countries.
Funding
Abstract
Mutations in human PRPF31 gene have been identified in patients with autosomal dominant retinitis pigmentosa (adRP). To begin to understand mechanisms by which defects in this general splicing factor cause retinal degeneration, we examined the relationship between PRPF31 and pre-mRNA splicing of photoreceptor-specific genes. We used a specific anti-PRPF31 antibody to immunoprecipitate splicing complexes from retinal cells and identified the transcript of rhodopsin gene (RHO) among RNA species associated with PRPF31-containing complexes. Mutant PRPF31 proteins significantly inhibited pre-mRNA splicing of intron 3 in RHO gene. In primary retinal cell cultures, expression of the mutant PRPF31 proteins reduced rhodopsin expression and caused apoptosis of rhodopsin-positive retinal cells. This primary retinal culture assay provides an in vitro model to study photoreceptor cell death caused by PRPF31 mutations. Our results demonstrate that mutations in PRPF31 gene affect RHO pre-mRNA splicing and reveal a link between PRPF31 and RHO, two major adRP genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.