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 NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.

FEBS letters - 4 Jul 2005

Petruzzella Vittoria, Panelli Damiano, Torraco Alessandra, Stella Alessandro, Papa Sergio

Abstract excerpt

The effect on the stability of alternative transcripts of different mutations of the NDUFS4 gene in patients with Leigh syndrome with complex I deficiency is presented. Normally, two NDUFS4 splice variants are degraded by nonsense mediated mRNA decay (NMD) while a third form does not trigger NMD degradation. In a patient with a premature termination codon in exon 1, all the three splice variants are up-regulated....

Read the complete abstract on PubMed

Topics

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

Share to Alternative Splicing
Share to Codon, Nonsense

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex I

Share to Leigh Disease

Share to NADH Dehydrogenase

Share to NADH, NADPH Oxidoreductases

Share to Protein Biosynthesis

Share to RNA Stability

Source

Identifiers

PMID: 15975579
DOI: 10.1016/j.febslet.2005.05.035

Genes

NDUFS4

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 · 8 closest

Mutations in the NDUFS4 gene of mitochondrial complex I alter stability of the splice variants.PMID 15975579Read ↗

The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.Semantic proximity Read ↗

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.Semantic proximity Read ↗

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.Semantic proximity Read ↗

Nonsense-mediated mRNA decayin health and diseaseSemantic proximity Read ↗

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene.Semantic proximity Read ↗

Widespread predicted nonsense-mediated mRNA decay of alternatively-spliced transcripts of human normal and disease genes.Semantic proximity Read ↗

Transcriptome analysis of alternative splicing-coupled nonsense-mediated mRNA decay in human cells reveals broad regulatory potentialSemantic proximity Read ↗

Inhibition of nonsense-mediated mRNA decay rescues the phenotype in Ullrich's disease.Semantic proximity Read ↗

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