Citations for
1NDUFS1, 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
2NDUFS2, NDUFS3
Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits.
Vogel RO, Dieteren CE, van den Heuvel LP, Willems PH, Smeitink JA, Koopman WJ, Nijtmans LG.
J Biol Chem 282(10):7582-90. Epub 2007 Jan 5. 2007
3NDUFS1, 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
4CMTND1, 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
5BCS1L, C10orf2, COX10, COX10D, COX17, DSPP, FRDA, MNGIE, NARP, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, 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
6NDUFS2
Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.
Loeffen J, Elpeleg O, Smeitink J, Smeets R, Stockler-Ipsiroglu S, Mandel H, Sengers R, Trijbels F, van den Heuvel L.
Ann Neurol 49(2):195-201. 2001
7NDUFS2
Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory complex I and immunodetection of the mature protein in mitochondria.
Procaccio V, et al.
Mamm Genome 9 : 482-484. 1998
8NDUFS2, NDUFS3, NDUFS6, NDUFS6L
cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I : the human IP fraction is completed.
Loeffen J, et al.
Biochem Biophys Res Commun 247 : 751-758. 1998