1 | NDUFS6
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| Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy.
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| 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.
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| Proc Natl Acad Sci U S A 109(16):6165-70. doi: 10.1073/pnas.1113987109. Epub 2012 Apr 2.
2012
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2 | CMTND2, NDUFS6
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| Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.
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| Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, Saada A, Elpeleg O, Shalev SA.
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| Eur J Hum Genet 17(9):1200-3. Epub 2009 Mar 4.PMID: 19259137 2009
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3 | BASP1, BRD9, DROSHA, NDUFS6, NNT, OSMR, PAIP1, PAPD7, RAD1, SDHA, SKP2, TARS
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| Integrative genomics analysis of chromosome 5p gain in cervical cancer reveals target over-expressed genes, including Drosha.
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| Scotto L, Narayan G, Nandula SV, Subramaniyam S, Kaufmann AM, Wright JD, Pothuri B, Mansukhani M, Schneider A, Arias-Pulido H, Murty VV.
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| Mol Cancer 7:58. 2008
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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 | CMTND2, NDUFS6
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| NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency.
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| Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR.
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| J Clin Invest 114(6):837-45. 2004
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6 | 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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7 | NDUFS2, NDUFS3, NDUFS6, NDUFS6L
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| 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.
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| Loeffen J, et al.
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| Biochem Biophys Res Commun 247 : 751-758. 1998
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