| 1 | NDUFS1
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| Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit.
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| Pagniez-Mammeri H, Landrieu P, Legrand A, Slama A.
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| Mol Genet Metab 101(2-3):297-8. Epub 2010 Jul 17. No abstract available. PMID: 20797884 2010
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| 2 | NDUFS1
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| Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.
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| Hoefs SJ, Skjeldal OH, Rodenburg RJ, Nedregaard B, van Kaauwen EP, Spiekerkötter U, von Kleist-Retzow JC, Smeitink JA, Nijtmans LG, van den Heuvel LP.
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| Mol Genet Metab 100(3):251-6. Epub 2010 Mar 21.PMID: 20382551 2010
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| 3 | NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8
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| Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
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| Papa S, Petruzzella V, Scacco S, Sardanelli AM, Iuso A, Panelli D, Vitale R, Trentadue R, De Rasmo D, Capitanio N, Piccoli C, Papa F, Scivetti M, Bertini E, Rizza T, De Michele G.
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| Biochim Biophys Acta 1787(5):502-17. Epub 2009 Jan 10. Review.PMID: 19210954 2009
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| 4 | NDUFS1
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| Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment.
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| Koopman WJ, Verkaart S, van Emst-de Vries SE, Grefte S, Smeitink JA, Nijtmans LG, Willems PH.
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| Biochim Biophys Acta 1777(7-8):853-9. Epub 2008 Apr 8.PMID: 18435906 2008
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| 5 | NDUFS1, NDUFS4
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| Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I.
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| Lazarou M, McKenzie M, Ohtake A, Thorburn DR, Ryan MT.
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| Mol Cell Biol 27(12):4228-37. Epub 2007 Apr 16.PMID: 17438127 2007
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| 6 | NDUFS1, NDUFS4
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| Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I.
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| Iuso A, Scacco S, Piccoli C, Bellomo F, Petruzzella V, Trentadue R, Minuto M, Ripoli M, Capitanio N, Zeviani M, Papa S.
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| J Biol Chem 281(15):10374-80. Epub 2006 Feb 13.PMID: 16478720 2006
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| 7 | NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8
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| Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.
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| Hinttala R, Uusimaa J, Remes AM, Rantala H, Hassinen IE, Majamaa K.
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| J Mol Med 83(10):786-94. Epub 2005 Sep 3. 2005
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| 8 | BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NDUFV1D, NF1, OPA1, PGL1, PGL2, PGL3, POLG, SCO1, SCO2, SDHA, SDHB, SDHC, SDHD, SLC25A4, SPG7, SURF1, VHL
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| Nuclear genetic defects of oxidative phosphorylation.
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| Shoubridge EA.
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| Hum Mol Genet 10(20):2277-84. Review. 2001
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| 9 | NDUFA8, NDUFB6, NDUFS1, NDUFV1, NDUFV1D
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| Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency.
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| Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A.
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| Am J Hum Genet 68(6):1344-52. Epub 2001 May 7. 2001
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| 10 | MT-ND1, MT-ND2, MT-ND3, MT-ND4L, MT-ND5, NDUFA10, NDUFA3, NDUFA7, NDUFA9, NDUFB10, NDUFB4, NDUFB5, NDUFB8, NDUFC2, NDUFS1, NDUFS7, NDUFS8, NDUFV2, NDUFV3
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| cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed.
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| Loeffen JL, et al.
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| Biochem Biophys Res Commun 253(2):415-22. 1998
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| 11 | NDUFS1
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| Localization of the human 75-kDal Fe-S protein of NADH-coenzyme Q reductase gene (NDUFS1) to 2q33-q34.
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| Duncan AMV, et al.
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| Cytogenet Cell Genet 60 : 212-213. 1992
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| 12 | NDUFS1
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| Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase.
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| Chow W, et al.
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| Eur J Biochem 201 : 547-550. 1991
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