Citations for
1CMTND7, NDUFAF6
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1.
McKenzie M, Tucker EJ, Compton AG, Lazarou M, George C, Thorburn DR, Ryan MT.
J Mol Biol 414(3):413-26. doi: 10.1016/j.jmb.2011.10.012. Epub 2011 Oct 14. 2011
2CMTND6, CMTND7, NDUFAF3, NDUFAF4, NDUFAF6
Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.
Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG.
Am J Hum Genet 84(6):718-27. Epub 2009 May 21. 2009
3CMTND7, NDUFAF6
A mitochondrial protein compendium elucidates complex I disease biology.
Pagliarini DJ, Calvo SE, Chang B, Sheth SA, Vafai SB, Ong SE, Walford GA, Sugiana C, Boneh A, Chen WK, Hill DE, Vidal M, Evans JG, Thorburn DR, Carr SA, Mootha VK.
Cell 134(1):112-23. 2008
4ATG101, C1orf59, CCDC51, CD37, CTF8, GLYAT, GSDMB, NDUFAF6, SPG21, TIAM2, ZNF35
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S.
Genome Res 14(9):1711-8. 2004