| 1 | NDUFAF5, NDUFS7
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| NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I.
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| Rhein VF, Carroll J, Ding S, Fearnley IM, Walker JE.
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| J Biol Chem 291(28):14851-60. doi: 10.1074/jbc.M116.734970. Epub 2016 May 18.
2016
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| 2 | 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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| 3 | NDUFS7
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| A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome.
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| Lebon S, Minai L, Chretien D, Corcos J, Serre V, Kadhom N, Steffann J, Pauchard JY, Munnich A, Bonnefont JP, Rotig A.
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| Mol Genet Metab 92(1-2):104-8. Epub 2007 Jun 28. 2007
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| 4 | 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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| 5 | CMTND1, NDUFS2, NDUFS4, NDUFS7, NDUFS8
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| Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
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| Ugalde C, Janssen RJ, Van Den Heuvel LP, Smeitink JA, Nijtmans LG.
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| Hum Mol Genet 13(6):659-67. Epub 2004 Jan 28. 2004
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| 6 | 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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| 7 | NDUFS7
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| Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
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| Triepels RH, et al.
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| Ann Neurol 45(6):787-90. 1999
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| 8 | 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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| 9 | NDUFS7
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| Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13.
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| Hyslop SJ, et al.
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| Genomics 37 : 375-380. 1996
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