ArticleThe Journal of clinical investigation2004
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
Article in The Journal of clinical investigation, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 90 papers, 1 of them a synthesis that pooled it.
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Who cites it
90 citing papers in PubMed, 1 synthesis or guideline pooled it, 186 citations in OpenAlex.
- Clinical spectrum, treatment and outcomes of the m.10197G>A mutation in MT-ND3: a case report, systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- Pan-disease blood protein profiles of rheumatic autoimmune diseases.Communications medicine · 2026Article
- Mitochondrial complex I deficiency-associated diseases and models.Cellular and molecular life sciences : CMLS · 2026Review
- Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.International journal of molecular sciences · 2026Article
- Variants in Nucleotide Sequences; Gene Expression; and Hematological, Immune, and Antioxidant Biomarkers Linked to Pneumonia Risk in Holstein Calves.Veterinary sciences · 2025Article
- Gene therapy prevents onset of mitochondrial cardiomyopathy in neonatal mice with Ndufs6 deficiency.Cell death discovery · 2025Article
- NADH:ubiquinone oxidoreductase core subunit S8 expression and functional significance in non-small cell lung cancer.Cell death & disease · 2025Article
- A New Perspective On Arterioectatic Spinal Angiopathy with a Reversible Pattern: Cause or Consequence?Clinical neuroradiology · 2025Article
- Insights into Molecular Mechanisms of Anticancer Activity ofPlants (Basel, Switzerland) · 2024Article
- The Transcript Levels and the Serum Profile of Biomarkers Associated with Clinical Endometritis Susceptibility in Buffalo Cows.Veterinary sciences · 2024Article
- Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Using cryo-EM to understand the assembly pathway of respiratory complex I.Acta crystallographica. Section D, Structural biology · 2024Article
- A Homozygous NDUFS6 Variant Associated with Neuropathy and Optic Atrophy.Journal of neuromuscular diseases · 2024Article
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- Male guanine-rich RNA sequence binding factor 1 knockout mice (Grsf1Cell & bioscience · 2022Article
- Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.Bioscience reports · 2022Article
- Immunoglobulin Superfamily Containing Leucine-Rich Repeat (Islr) Participates in IL-6-Mediated Crosstalk between Muscle and Brown Adipose Tissue to Regulate Energy Homeostasis.International journal of molecular sciences · 2022Article
- A large portion of the astrocyte proteome is dedicated to perivascular endfeet, including critical components of the electron transport chain.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2021Article
- Evaluating the Bioenergetics Health Index Ratio in Leigh Syndrome Fibroblasts to Understand Disease Severity.International journal of molecular sciences · 2021Article
30 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
complex I deficiency, the most common respiratory chain defect, is genetically heterogeneous: mutations in 8 nuclear and 7 mitochondrial DNA genes encoding complex I subunits have been described. However, these genes account for disease in only a minority of complex I-deficient patients. We investigated whether there may be an unknown common gene by performing functional complementation analysis of cell lines from 10 unrelated patients. Two of the patients were found to have mitochondrial DNA mutations. The other 8 represented 7 different (nuclear) complementation groups, all but 1 of which showed abnormalities of complex I assembly. It is thus unlikely that any one unknown gene accounts for a large proportion of complex I cases. The 2 patients sharing a nuclear complementation group had a similar abnormal complex I assembly profile and were studied further by homozygosity mapping, chromosome transfers, and microarray expression analysis. NDUFS6, a complex I subunit gene not previously associated with complex I deficiency, was grossly underexpressed in the 2 patient cell lines. Both patients had homozygous mutations in this gene, one causing a splicing abnormality and the other a large deletion. This integrated approach to gene identification offers promise for identifying other unknown causes of respiratory chain disorders.
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