Citations for
1NDUFS4
Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity.
Calvaruso MA, Willems P, van den Brand M, Valsecchi F, Kruse S, Palmiter R, Smeitink J, Nijtmans L.
Hum Mol Genet 21(1):115-20. doi: 10.1093/hmg/ddr446. Epub 2011 Sep 28. 2012
2NDUFS4
NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement.
Leshinsky-Silver E, Lebre AS, Minai L, Saada A, Steffann J, Cohen S, Rötig A, Munnich A, Lev D, Lerman-Sagie T.
Mol Genet Metab 97(3):185-9. Epub 2009 Mar 11. 2009
3NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
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.
Biochim Biophys Acta 1787(5):502-17. Epub 2009 Jan 10. Review.PMID: 19210954 2009
4NDUFS4
The regulation of PTC containing transcripts of the human NDUFS4 gene of complex I of respiratory chain and the impact of pathological mutations.
Panelli D, Petruzzella V, Vitale R, De Rasmo D, Munnich A, Rötig A, Papa S.
Biochimie 90(10):1452-60. Epub 2008 May 27.PMID: 18555024 2008
5NDUFS4
cAMP-dependent protein kinase regulates the mitochondrial import of the nuclear encoded NDUFS4 subunit of complex I.
De Rasmo D, Panelli D, Sardanelli AM, Papa S.
Cell Signal 20(5):989-97. Epub 2008 Jan 31.PMID: 18291624 2008
6NDUFS1, NDUFS4
Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I.
Lazarou M, McKenzie M, Ohtake A, Thorburn DR, Ryan MT.
Mol Cell Biol 27(12):4228-37. Epub 2007 Apr 16.PMID: 17438127 2007
7NDUFS1, NDUFS4
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 281(15):10374-80. Epub 2006 Feb 13.PMID: 16478720 2006
8NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8
Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.
Hinttala R, Uusimaa J, Remes AM, Rantala H, Hassinen IE, Majamaa K.
J Mol Med 83(10):786-94. Epub 2005 Sep 3. 2005
9CMTND1, NDUFS2, NDUFS4, NDUFS7, NDUFS8
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
Ugalde C, Janssen RJ, Van Den Heuvel LP, Smeitink JA, Nijtmans LG.
Hum Mol Genet 13(6):659-67. Epub 2004 Jan 28. 2004
10NDUFS4
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.
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.
Hum Genet 112(5-6):563-6. Epub 2003 Mar 04. 2003
11NDUFS4
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.
Scacco S, Petruzzella V, Budde S, Vergari R, Tamborra R, Panelli D, van den Heuvel LP, Smeitink JA, Papa S.
J Biol Chem 278(45):44161-7. Epub 2003 Aug 27. 2003
12CMTND1, NDUFS4
Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.
Petruzzella V, Papa S.
Gene 286(1):149-54. Review. 2002
13NDUFS4
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.
Petruzzella V, Vergari R, Puzziferri I, Boffoli D, Lamantea E, Zeviani M, Papa S.
Hum Mol Genet 10(5):529-35. 2001
14BCS1L, 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
Nuclear genetic defects of oxidative phosphorylation.
Shoubridge EA.
Hum Mol Genet 10(20):2277-84. Review. 2001
15NDUFS4
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.
van den Heuvel L, Ruitenbeek W, Smeets R, Gelman-Kohan Z, Elpeleg O, Loeffen J, Trijbels F, Mariman E, de Bruijn D, Smeitink J.
Am J Hum Genet 62(2):262-8. 1998
16NDUFA8, NDUFAB1, NDUFB1, NDUFB2, NDUFB6, NDUFB7, NDUFB9, NDUFB10, NDUFC1, NDUFS3, NDUFS4, NDUFS5, NDUFS6
Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain.
Emahazion T, et al.
Cytogenet Cell Genet 82 : 115-119. 1998
17NDUFS4
The nuclear-encoded 18 kDa (IP) AQDQ subunit of bovine heart complex I is phosphorylated by the mitochondrial cAMP-dependent protein kinase.
Papa S, et al.
FEBS Lett 379 : 299-301. 1996
18CMTND1, NDUFS4
Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.
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.
Eur J Biochem 227(3):909-15. 1995