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

Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.

Nucleic acids research - 25 Jan 2023

Almentina Ramos Shidi Fatimat, Cologne Audric, Delous Marion, Besson Alicia, Putoux Audrey, Leutenegger Anne-Louise, Lacroix Vincent, Edery Patrick, Mazoyer Sylvie, Bordonné Rémy

Abstract excerpt

Various genetic diseases associated with microcephaly and developmental defects are due to pathogenic variants in the U4atac small nuclear RNA (snRNA), a component of the minor spliceosome essential for the removal of U12-type introns from eukaryotic mRNAs. While it has been shown that a few RNU4ATAC mutations result in impaired binding of essential protein components, the molecular defects of the vast majority...

Read the complete abstract on PubMed

Topics

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

Share to Homeostasis
Share to Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Ribonucleoproteins, Small Nuclear

Share to RNA, Small Nuclear

Share to RNA Splicing

Share to Spliceosomes

Source

Open in PubMed Open full text

Identifiers

PMID: 36537210
DOI: 10.1093/nar/gkac1182
PMCID: PMC9881141

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

Mutations in the non-coding RNU4ATAC gene affect the homeostasis and function of the Integrator complex.PMID 36537210Read ↗

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.Semantic proximity Read ↗

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defectsSemantic proximity Read ↗

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.Semantic proximity Read ↗

Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.Semantic proximity Read ↗

Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.Semantic proximity Read ↗

Phenotypic spectrum of RNU4ATAC-related spliceosomopathies: four novel cases and integrated reevaluation of previously reported patients.Semantic proximity Read ↗

The integrity of the U12 snRNA 3' stem-loop is necessary for its overall stability.Semantic proximity Read ↗

Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patientSemantic proximity Read ↗

Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.Semantic proximity Read ↗

Human mutations in integrator complex subunits link transcriptome integrity to brain development.Semantic proximity Read ↗

Biallelic variants in RNU12 cause CDAGS syndromeSemantic proximity Read ↗

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.Semantic proximity Read ↗

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