Citations for
1NDUFS6
Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy.
Ke BX, Pepe S, Grubb DR, Komen JC, Laskowski A, Rodda FA, Hardman BM, Pitt JJ, Ryan MT, Lazarou M, Koleff J, Cheung MM, Smolich JJ, Thorburn DR.
Proc Natl Acad Sci U S A 109(16):6165-70. doi: 10.1073/pnas.1113987109. Epub 2012 Apr 2. 2012
2CMTND2, NDUFS6
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.
Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, Saada A, Elpeleg O, Shalev SA.
Eur J Hum Genet 17(9):1200-3. Epub 2009 Mar 4.PMID: 19259137 2009
3BASP1, BRD9, DROSHA, NDUFS6, NNT, OSMR, PAIP1, PAPD7, RAD1, SDHA, SKP2, TARS
Integrative genomics analysis of chromosome 5p gain in cervical cancer reveals target over-expressed genes, including Drosha.
Scotto L, Narayan G, Nandula SV, Subramaniyam S, Kaufmann AM, Wright JD, Pothuri B, Mansukhani M, Schneider A, Arias-Pulido H, Murty VV.
Mol Cancer 7:58. 2008
4NDUFS1, 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
5CMTND2, NDUFS6
NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR.
J Clin Invest 114(6):837-45. 2004
6NDUFA8, 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
7NDUFS2, 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