Gene Symbol: Ndufs1
Description: NADH:ubiquinone oxidoreductase core subunit S1
Alias: NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial, NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa
Species: rat
Products:     Ndufs1

Top Publications

  1. Martin M, Blazquez A, Gutierrez Solana L, Fernandez Moreira D, Briones P, Andreu A, et al. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Arch Neurol. 2005;62:659-61 pubmed
    Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families.
  2. Petrosillo G, Matera M, Moro N, Ruggiero F, Paradies G. Mitochondrial complex I dysfunction in rat heart with aging: critical role of reactive oxygen species and cardiolipin. Free Radic Biol Med. 2009;46:88-94 pubmed publisher
    ..These results may prove useful in elucidating the mechanism underlying mitochondrial dysfunction associated with heart aging. ..
  3. Liu G, Zhang C, Yin J, Li X, Cheng F, Li Y, et al. alpha-Synuclein is differentially expressed in mitochondria from different rat brain regions and dose-dependently down-regulates complex I activity. Neurosci Lett. 2009;454:187-92 pubmed publisher
  4. Signorile A, Sardaro N, De Rasmo D, Scacco S, Papa F, Borracci P, et al. Rat embryo exposure to all-trans retinoic acid results in postnatal oxidative damage of respiratory complex I in the cerebellum. Mol Pharmacol. 2011;80:704-13 pubmed publisher
    ..It is proposed that embryonic exposure to ATRA results in impairment of protein surveillance in the cerebellum, which persists after birth and results in accumulation of oxidatively damaged complex I. ..
  5. Benit P, Chretien D, Kadhom N, De Lonlay Debeney P, Cormier Daire V, Cabral A, et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet. 2001;68:1344-52 pubmed
    ..bases of complex I deficiency, we studied the six most-conserved complex I nuclear genes (NDUFV1, NDUFS8, NDUFS7, NDUFS1, NDUFA8, and NDUFB6) in a series of 36 patients with isolated complex I deficiency by denaturing high-performance ..
  6. Ricci J, Munoz Pinedo C, Fitzgerald P, Bailly Maitre B, Perkins G, Yadava N, et al. Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain. Cell. 2004;117:773-86 pubmed
    ..Here, we identify NDUFS1, the 75 kDa subunit of respiratory complex I, as a critical caspase substrate in the mitochondria...
  7. Iuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, et al. Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. J Biol Chem. 2006;281:10374-80 pubmed
    The pathogenic mechanism of a G44A nonsense mutation in the NDUFS4 gene and a C1564A mutation in the NDUFS1 gene of respiratory chain complex I was investigated in fibroblasts from human patients...
  8. Piccoli C, Scacco S, Bellomo F, Signorile A, Iuso A, Boffoli D, et al. cAMP controls oxygen metabolism in mammalian cells. FEBS Lett. 2006;580:4539-43 pubmed
    ..A missense genetic defect in the NDUFS4 subunit, putative substrate of PKA, suppressed, on the other hand, the activity of the complex and prevented ROS production. ..
  9. Danielson S, Held J, Oo M, Riley R, Gibson B, Andersen J. Quantitative mapping of reversible mitochondrial Complex I cysteine oxidation in a Parkinson disease mouse model. J Biol Chem. 2011;286:7601-8 pubmed publisher
    ..Three of these residues were found to reside within iron-sulfur clusters of Complex I, suggesting that their redox state may affect electron transport function. ..

More Information


  1. Kelly Aubert M, Trudel S, Fritsch J, Nguyen Khoa T, Baudouin Legros M, Moriceau S, et al. GSH monoethyl ester rescues mitochondrial defects in cystic fibrosis models. Hum Mol Genet. 2011;20:2745-59 pubmed publisher
    ..These studies provide evidence for a critical role of a mtGSH defect in mitochondrial dysfunction and abnormal IL-8 secretion in CF cells and reveal the therapeutic potential of mitochondria-targeted antioxidants in CF. ..