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Article

Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.

Human molecular genetics - 15 Jul 2007

Comitato Antonella, Spampanato Carmine, Chakarova Christina, Sanges Daniela, Bhattacharya Shomi S, Marigo Valeria

Abstract excerpt

PRPF3 is an element of the splicing machinery ubiquitously expressed, yet mutations in this gene are associated with a tissue-specific phenotype: autosomal dominant retinitis pigmentosa (RP). Here, we studied the subcellular localization of endogenous- and mutant-transfected PRPF3. We found that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Ribonucleoprotein, U4-U6 Small Nuclear

Source

Identifiers

PMID: 17517693
DOI: 10.1093/hmg/ddm118

Genes

PRPF3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17517693-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Mutations in splicing factor PRPF3, causing retinal degeneration, form detrimental aggregates in photoreceptor cells.PMID 17517693Read ↗

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.Semantic proximity Read ↗

Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP.Semantic proximity Read ↗

Progressive protein aggregation in PRPF31 patient retinal pigment epithelium cells: the mechanism and its reversal through activation of autophagySemantic proximity Read ↗

Pre-mRNA Processing Factors and Retinitis Pigmentosa: RNA Splicing and BeyondSemantic proximity Read ↗

PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects.Semantic proximity Read ↗

Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration.Semantic proximity Read ↗

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

PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects.Semantic proximity Read ↗

PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture.Semantic proximity Read ↗

Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins.Semantic proximity Read ↗

PRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defectsSemantic proximity Read ↗

Retinitis pigmentosa associated mutations in mouse Prpf8 cause misexpression of circRNAs and degeneration of cerebellar granule neuronsSemantic proximity Read ↗

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