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

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.

American journal of human genetics - 1 Nov 2009

Zhao Chen, Bellur Deepti L, Lu Shasha, Zhao Feng, Grassi Michael A, Bowne Sara J, Sullivan Lori S, Daiger Stephen P, Chen Li Jia, Pang Chi Pui, Zhao Kanxing, Staley Jonathan P, Larsson Catharina

Abstract excerpt

Mutations in genes associated with the U4/U6-U5 small nuclear ribonucleoprotein (snRNP) complex of the spliceosome are implicated in autosomal-dominant retinitis pigmentosa (adRP), a group of progressive retinal degenerative disorders leading to visual impairment, loss of visual field, and even blindness. We recently assigned a locus (RP33) for adRP to 2cen-q12.1, a region that harbors the SNRNP200 gene encoding...

Read the complete abstract on PubMed

Topics

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

Share to Leucine
Share to Lod Score

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Physical Chromosome Mapping

Share to Retinitis Pigmentosa

Share to Ribonucleoprotein, U4-U6 Small Nuclear

Share to Ribonucleoprotein, U5 Small Nuclear

Share to Ribonucleoproteins, Small Nuclear

Share to RNA, Small Nuclear

Source

Open in PubMed Open full text

Identifiers

PMID: 19878916
DOI: 10.1016/j.ajhg.2009.09.020
PMCID: PMC2775825

Variants

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

Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs.PMID 19878916Read ↗

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

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Contribution of SNRNP200 sequence variations to retinitis pigmentosa.Semantic proximity Read ↗

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Semantic proximity Read ↗

Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognition.Semantic proximity Read ↗

Brr2p-mediated unwinding of U4/U6 is promoted by a mutually exclusive intra-molecular stem loop in U4 and involves destabilization of the 5’ stem-loop of U4Semantic proximity Read ↗

N-acetylcysteine suppresses retinal defects in Drosophila models of SNRNP200-associated retinitis pigmentosa.Semantic proximity Read ↗

prp8 mutations that cause human retinitis pigmentosa lead to a U5 snRNP maturation defect in yeast.Semantic proximity Read ↗

Structural basis of Brr2-Prp8 interactions and implications for U5 snRNP biogenesis and the spliceosome active site.Semantic proximity Read ↗

Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.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 ↗

ATP-dependent unwinding of U4/U6 snRNAs by the Brr2 helicase requires the C terminus of Prp8.Semantic proximity Read ↗

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