Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human molecular genetics - 1 Jun 2011

Tanackovic Goranka, Ransijn Adriana, Thibault Philippe, Abou Elela Sherif, Klinck Roscoe, Berson Eliot L, Chabot Benoit, Rivolta Carlo

Abstract excerpt

Proteins PRPF31, PRPF3 and PRPF8 (RP-PRPFs) are ubiquitously expressed components of the spliceosome, a macromolecular complex that processes nearly all pre-mRNAs. Although these spliceosomal proteins are conserved in eukaryotes and are essential for survival, heterozygous mutations in human RP-PRPF genes lead to retinitis pigmentosa, a hereditary disease restricted to the eye. Using cells from patients with 10...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Eye Proteins
Share to Retina

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Retinitis Pigmentosa

Share to Ribonucleoprotein, U4-U6 Small Nuclear

Share to Ribonucleoproteins, Small Nuclear

Share to RNA Precursors

Share to RNA, Small Nuclear

Share to Spliceosomes

Source

Open in PubMed Open full text

Identifiers

PMID: 21378395
DOI: 10.1093/hmg/ddr094
PMCID: PMC3090192

Genes

PRPF3
PRPF31
PRPF8

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PRPF mutations are associated with generalized defects in spliceosome formation and pre-mRNA splicing in patients with retinitis pigmentosa.PMID 21378395Read ↗

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

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

Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5' splice site strength.Semantic proximity Read ↗

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

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

Alternative splicing and retinal degeneration.Semantic proximity Read ↗

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

Retinitis pigmentosa-linked mutations impair the snRNA unwinding activity of SNRNP200 and reduce pre-mRNA binding of PRPF8.Semantic proximity Read ↗

Gene of the month: PRPF31.Semantic proximity Read ↗

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for 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 ↗

Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.