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Article

Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).

Investigative ophthalmology & visual science - 1 Dec 2009

Bujakowska Kinga, Maubaret Cecilia, Chakarova Christina F, Tanimoto Naoyuki, Beck Susanne C, Fahl Edda, Humphries Marian M, Kenna Paul F, Makarov Evgeny, Makarova Olga, Paquet-Durand François, Ekström Per A, van Veen Theo, Leveillard Thierry, Humphries Peter, Seeliger Mathias W, Bhattacharya Shomi S

Abstract excerpt

PURPOSE: Pre-mRNA processing factor 31 (PRPF31) is a ubiquitous protein needed for the assembly of the pre-mRNA splicing machinery. It has been shown that mutations in this gene cause autosomal dominant retinitis pigmentosa 11 (RP11), which is characterized by rod-cell degeneration. Interestingly, mutations in this ubiquitously expressed gene do not lead to phenotypes other than retinal malfunction. Furthermore,...

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Identifiers

PMID: 19578015
DOI: 10.1167/iovs.08-3275

Genes

PRPF31

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP).PMID 19578015Read ↗

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