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Gene Review

NDUFS1  -  NADH dehydrogenase (ubiquinone) Fe-S...

Homo sapiens

Synonyms: CI-75Kd, CI-75k, CI-75kD, Complex I-75kD, NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial, ...
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Disease relevance of NDUFS1


High impact information on NDUFS1


Anatomical context of NDUFS1

  • Exposure of the NDUFS1 mutant fibroblasts to dibutyryl-cAMP stimulated the residual NADH-ubiquinone oxidoreductase activity, induced disappearance of ROS, and restored the mitochondrial potential [4].


  1. Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. Martín, M.A., Blázquez, A., Gutierrez-Solana, L.G., Fernández-Moreira, D., Briones, P., Andreu, A.L., Garesse, R., Campos, Y., Arenas, J. Arch. Neurol. (2005) [Pubmed]
  2. Disruption of mitochondrial function during apoptosis is mediated by caspase cleavage of the p75 subunit of complex I of the electron transport chain. Ricci, J.E., Muñoz-Pinedo, C., Fitzgerald, P., Bailly-Maitre, B., Perkins, G.A., Yadava, N., Scheffler, I.E., Ellisman, M.H., Green, D.R. Cell (2004) [Pubmed]
  3. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Bénit, P., Chretien, D., Kadhom, N., de Lonlay-Debeney, P., Cormier-Daire, V., Cabral, A., Peudenier, S., Rustin, P., Munnich, A., Rötig, A. Am. J. Hum. Genet. (2001) [Pubmed]
  4. Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I. Iuso, A., Scacco, S., Piccoli, C., Bellomo, F., Petruzzella, V., Trentadue, R., Minuto, M., Ripoli, M., Capitanio, N., Zeviani, M., Papa, S. J. Biol. Chem. (2006) [Pubmed]
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