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

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.

Journal of medical genetics - 1 Jan 2004

Bénit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rötig A, Rustin P

Abstract excerpt

Respiratory chain complex I deficiency represents a genetically heterogeneous group of diseases resulting from mutations in mitochondrial or nuclear genes. Mutations have been reported in 13 of the 14 subunits encoding the core of complex I (seven mitochondrial and six nuclear genes) and these result in Leigh or Leigh-like syndromes or cardiomyopathy. In this study, a combination of denaturing high performance...

Read the complete abstract on PubMed

Topics

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

Share to Mutation
Share to Child
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fatal Outcome

Share to Iron-Sulfur Proteins

Share to Leigh Disease

Share to NADH Dehydrogenase

Share to Protein Subunits

Source

Open in PubMed Open full text

Identifiers

PMID: 14729820
DOI: 10.1136/jmg.2003.014316
PMCID: PMC1757256

Genes

NDUFS3
NDUFS2
NDUFV2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome.PMID 14729820Read ↗

Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene.Semantic proximity Read ↗

Identification of a novel pathogenic gene, NDUFA3, in Leigh Syndrome through whole exome sequencing.Semantic proximity Read ↗

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome.Semantic proximity Read ↗

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.Semantic proximity Read ↗

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.Semantic proximity Read ↗

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

Mitochondrial DNA or Genomic DNA Variant(s): Utility of Exhaustive Sequencing in Leigh Syndrome.Semantic proximity Read ↗

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene.Semantic proximity Read ↗

Clinical and molecular findings in children with complex I deficiency.Semantic proximity Read ↗

A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.Semantic proximity Read ↗

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome.Semantic proximity Read ↗

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.Semantic proximity Read ↗

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