1 | NDUFS4
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| Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.
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| Calvaruso MA, Willems P, van den Brand M, Valsecchi F, Kruse S, Palmiter R, Smeitink J, Nijtmans L.
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| Hum Mol Genet 21(1):115-20. doi: 10.1093/hmg/ddr446. Epub 2011 Sep 28.
2012
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2 | NDUFS4
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| NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
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| Leshinsky-Silver E, Lebre AS, Minai L, Saada A, Steffann J, Cohen S, Rötig A, Munnich A, Lev D, Lerman-Sagie T.
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| Mol Genet Metab 97(3):185-9. Epub 2009 Mar 11.
2009
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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 | NDUFS4
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| The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.
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| Panelli D, Petruzzella V, Vitale R, De Rasmo D, Munnich A, Rötig A, Papa S.
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| Biochimie 90(10):1452-60. Epub 2008 May 27.PMID: 18555024 2008
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5 | NDUFS4
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| cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex I.
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| De Rasmo D, Panelli D, Sardanelli AM, Papa S.
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| Cell Signal 20(5):989-97. Epub 2008 Jan 31.PMID: 18291624 2008
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6 | 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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7 | 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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8 | 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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9 | 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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10 | NDUFS4
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| Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome.
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| Benit P, Steffann J, Lebon S, Chretien D, Kadhom N, de Lonlay P, Goldenberg A, Dumez Y, Dommergues M, Rustin P, Munnich A, Rotig A.
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| Hum Genet 112(5-6):563-6. Epub 2003 Mar 04. 2003
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11 | NDUFS4
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| Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex.
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| Scacco S, Petruzzella V, Budde S, Vergari R, Tamborra R, Panelli D, van den Heuvel LP, Smeitink JA, Papa S.
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| J Biol Chem 278(45):44161-7. Epub 2003 Aug 27. 2003
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12 | CMTND1, NDUFS4
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| Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.
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| Petruzzella V, Papa S.
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| Gene 286(1):149-54. Review. 2002
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13 | NDUFS4
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| A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
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| Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa S.
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| Hum Mol Genet 10(5):529-35. 2001
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14 | 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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15 | NDUFS4
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| Demonstration of a new pathogenic mutation in human complex I deficiency : a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.
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| van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J.
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| Am J Hum Genet 62(2):262-8. 1998
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16 | NDUFA8, NDUFAB1, NDUFB1, NDUFB2, NDUFB6, NDUFB7, NDUFB9, NDUFB10, NDUFC1, NDUFS3, NDUFS4, NDUFS5, NDUFS6
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| Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain.
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| Emahazion T, et al.
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| Cytogenet Cell Genet 82 : 115-119. 1998
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17 | NDUFS4
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| The nuclear-encoded 18 kDa (IP) AQDQ subunit of bovine heart complex I is phosphorylated by the mitochondrial cAMP-dependent protein kinase.
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| Papa S, et al.
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| FEBS Lett 379 : 299-301. 1996
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18 | CMTND1, NDUFS4
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| Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.
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| Bentlage H, de Coo R, ter Laak H, Sengers R, Trijbels F, Ruitenbeek W, Schlote W, Pfeiffer K, Gencic S, von Jagow G, et al.
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| Eur J Biochem 227(3):909-15. 1995
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