ArticleEuropean journal of human genetics : EJHG2011
NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 90 citations in OpenAlex.
- Functional Reconstitution of Mitochondrial Respiratory Supercomplexes.Journal of visualized experiments : JoVE · 2026Article
- Genomic dissection of hoof and leg conformation in Swiss dairy cattle populations reveals polygenic architecture and a recessive HYAL1 nonsense variant affecting longevity in Holstein cattle.Genetics, selection, evolution : GSE · 2026Article
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- Roles of mitochondrial complexes in non-alcoholic fatty liver disease.Frontiers in molecular biosciences · 2026Review
- NDUFB7 mutations cause brain neuronal defects, lactic acidosis, and mitochondrial dysfunction in humans and zebrafish.Cell death discovery · 2025Article
- Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future.Biomolecules · 2025Review
- CAV3 alleviates diabetic cardiomyopathy via inhibiting NDUFA10-mediated mitochondrial dysfunction.Journal of translational medicine · 2024Article
- Complex Evolutionary History With Extensive Ancestral Gene Flow in an African Primate Radiation.Molecular biology and evolution · 2023Article
- An Exploration of the Coherent Effects between METTL3 and NDUFA10 on Alzheimer's Disease.International journal of molecular sciences · 2023Article
- Male guanine-rich RNA sequence binding factor 1 knockout mice (Grsf1Cell & bioscience · 2022Article
- Most mitochondrial dGTP is tightly bound to respiratory complex I through the NDUFA10 subunit.Communications biology · 2022Article
- AGK regulates the progression to NASH by affecting mitochondria complex I function.Theranostics · 2022Article
- An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.Biomolecules · 2021Review
- Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions.International journal of molecular sciences · 2021Review
- Leigh Syndrome: A Tale of Two Genomes.Frontiers in physiology · 2021Review
- Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering.BioMed research international · 2021Article
- Analysis of Human Mutations in the Supernumerary Subunits of Complex I.Life (Basel, Switzerland) · 2020Review
- Blackout in the powerhouse: clinical phenotypes associated with defects in the assembly of OXPHOS complexes and the mitoribosome.The Biochemical journal · 2020Review
- Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.EMBO molecular medicine · 2020Article
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial complex I deficiency is the most common defect of the oxidative phosphorylation system. We report a patient with Leigh syndrome who showed a complex I deficiency expressed in cultured fibroblasts and muscle tissue. To find the genetic cause of the complex I deficiency, we screened the mitochondrial DNA and the nuclear-encoded subunits of complex I. We identified compound-heterozygous mutations in the NDUFA10 gene, encoding an accessory subunit of complex I. The first mutation disrupted the start codon and the second mutation resulted in an amino acid substitution. The fibroblasts of the patient displayed decreased amount and activity, and a disturbed assembly of complex I. These results indicate that NDUFA10 is a novel candidate gene to screen for disease-causing mutations in patients with complex I deficiency.
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