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Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia.
Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P. Gaignard P, et al. Among authors: rustin p. Am J Hum Genet. 2013 Aug 8;93(2):384-9. doi: 10.1016/j.ajhg.2013.06.015. Epub 2013 Aug 1. Am J Hum Genet. 2013. PMID: 23910460 Free PMC article.
Mitochondrial complex I deficiency of nuclear origin I. Structural genes.
Pagniez-Mammeri H, Loublier S, Legrand A, Bénit P, Rustin P, Slama A. Pagniez-Mammeri H, et al. Among authors: rustin p. Mol Genet Metab. 2012 Feb;105(2):163-72. doi: 10.1016/j.ymgme.2011.11.188. Epub 2011 Nov 18. Mol Genet Metab. 2012. PMID: 22142868 Review.
SDHA is a tumor suppressor gene causing paraganglioma.
Burnichon N, Brière JJ, Libé R, Vescovo L, Rivière J, Tissier F, Jouanno E, Jeunemaitre X, Bénit P, Tzagoloff A, Rustin P, Bertherat J, Favier J, Gimenez-Roqueplo AP. Burnichon N, et al. Among authors: rustin p. Hum Mol Genet. 2010 Aug 1;19(15):3011-20. doi: 10.1093/hmg/ddq206. Epub 2010 May 18. Hum Mol Genet. 2010. PMID: 20484225 Free PMC article.
The NDUFB6 subunit of the mitochondrial respiratory chain complex I is required for electron transfer activity: a proof of principle study on stable and controlled RNA interference in human cell lines.
Loublier S, Bayot A, Rak M, El-Khoury R, Bénit P, Rustin P. Loublier S, et al. Among authors: rustin p. Biochem Biophys Res Commun. 2011 Oct 22;414(2):367-72. doi: 10.1016/j.bbrc.2011.09.078. Epub 2011 Sep 21. Biochem Biophys Res Commun. 2011. PMID: 21964293
321 results