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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: lombes a. 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.
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW, Benayoun E, Chrétien D, Kadhom N, Lombès A, de Baulny HO, Niaudet P, Munnich A, Rustin P, Rötig A. de Lonlay P, et al. Among authors: lombes a. Nat Genet. 2001 Sep;29(1):57-60. doi: 10.1038/ng706. Nat Genet. 2001. PMID: 11528392
Unsolved issues related to human mitochondrial diseases.
Lombès A, Auré K, Bellanné-Chantelot C, Gilleron M, Jardel C. Lombès A, et al. Biochimie. 2014 May;100:171-6. doi: 10.1016/j.biochi.2013.08.012. Epub 2013 Aug 20. Biochimie. 2014. PMID: 23973280 Free article. Review.
QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease.
Guarani V, Jardel C, Chrétien D, Lombès A, Bénit P, Labasse C, Lacène E, Bourillon A, Imbard A, Benoist JF, Dorboz I, Gilleron M, Goetzman ES, Gaignard P, Slama A, Elmaleh-Bergès M, Romero NB, Rustin P, Ogier de Baulny H, Paulo JA, Harper JW, Schiff M. Guarani V, et al. Among authors: lombes a. Elife. 2016 Sep 13;5:e17163. doi: 10.7554/eLife.17163. Elife. 2016. PMID: 27623147 Free PMC article.
Effect of Lon protease knockdown on mitochondrial function in HeLa cells.
Bayot A, Gareil M, Chavatte L, Hamon MP, L'Hermitte-Stead C, Beaumatin F, Priault M, Rustin P, Lombès A, Friguet B, Bulteau AL. Bayot A, et al. Among authors: lombes a. Biochimie. 2014 May;100:38-47. doi: 10.1016/j.biochi.2013.12.005. Epub 2013 Dec 17. Biochimie. 2014. PMID: 24355201
186 results