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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: rak m. 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.
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: rak m. 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
ANT2-defective fibroblasts exhibit normal mitochondrial bioenergetics.
Prabhu D, Goldstein AC, El-Khoury R, Rak M, Edmunds L, Rustin P, Vockley J, Schiff M. Prabhu D, et al. Among authors: rak m. Mol Genet Metab Rep. 2015 Jun 1;3:43-46. doi: 10.1016/j.ymgmr.2015.03.005. Mol Genet Metab Rep. 2015. PMID: 26000237 Free PMC article.
Alternative oxidase expression in the mouse enables bypassing cytochrome c oxidase blockade and limits mitochondrial ROS overproduction.
El-Khoury R, Dufour E, Rak M, Ramanantsoa N, Grandchamp N, Csaba Z, Duvillié B, Bénit P, Gallego J, Gressens P, Sarkis C, Jacobs HT, Rustin P. El-Khoury R, et al. Among authors: rak m. PLoS Genet. 2013;9(1):e1003182. doi: 10.1371/journal.pgen.1003182. Epub 2013 Jan 3. PLoS Genet. 2013. PMID: 23300486 Free PMC article.
Mitochondrial cytochrome c oxidase deficiency.
Rak M, Bénit P, Chrétien D, Bouchereau J, Schiff M, El-Khoury R, Tzagoloff A, Rustin P. Rak M, et al. Clin Sci (Lond). 2016 Mar;130(6):393-407. doi: 10.1042/CS20150707. Clin Sci (Lond). 2016. PMID: 26846578 Free PMC article. Review.
155 results