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Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.
Kremer LS, L'hermitte-Stead C, Lesimple P, Gilleron M, Filaut S, Jardel C, Haack TB, Strom TM, Meitinger T, Azzouz H, Tebib N, Ogier de Baulny H, Touati G, Prokisch H, Lombès A. Kremer LS, et al. Among authors: jardel c. J Hepatol. 2016 Aug;65(2):377-85. doi: 10.1016/j.jhep.2016.04.017. Epub 2016 May 2. J Hepatol. 2016. PMID: 27151179 Free PMC article.
[Pathophysiology of human mitochondrial diseases].
Lombès A, Auré K, Jardel C. Lombès A, et al. Among authors: jardel c. Biol Aujourdhui. 2015;209(2):125-32. doi: 10.1051/jbio/2015014. Epub 2015 Oct 29. Biol Aujourdhui. 2015. PMID: 26514381 Review. French.
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: jardel c. Elife. 2016 Sep 13;5:e17163. doi: 10.7554/eLife.17163. Elife. 2016. PMID: 27623147 Free PMC article.
Genetic diagnosis of Mendelian disorders via RNA sequencing.
Kremer LS, Bader DM, Mertes C, Kopajtich R, Pichler G, Iuso A, Haack TB, Graf E, Schwarzmayr T, Terrile C, Koňaříková E, Repp B, Kastenmüller G, Adamski J, Lichtner P, Leonhardt C, Funalot B, Donati A, Tiranti V, Lombes A, Jardel C, Gläser D, Taylor RW, Ghezzi D, Mayr JA, Rötig A, Freisinger P, Distelmaier F, Strom TM, Meitinger T, Gagneur J, Prokisch H. Kremer LS, et al. Among authors: jardel c. Nat Commun. 2017 Jun 12;8:15824. doi: 10.1038/ncomms15824. Nat Commun. 2017. PMID: 28604674 Free PMC article.
Homoplasmic deleterious MT-ATP6/8 mutations in adult patients.
Rucheton B, Jardel C, Filaut S, Amador MDM, Maisonobe T, Serre I, Romero NB, Leonard-Louis S, Haraux F, Lombès A. Rucheton B, et al. Among authors: jardel c. Mitochondrion. 2020 Nov;55:64-77. doi: 10.1016/j.mito.2020.08.004. Epub 2020 Aug 26. Mitochondrion. 2020. PMID: 32858252
Unsolved issues related to human mitochondrial diseases.
Lombès A, Auré K, Bellanné-Chantelot C, Gilleron M, Jardel C. Lombès A, et al. Among authors: jardel c. 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.
Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations.
Agier V, Oliviero P, Lainé J, L'Hermitte-Stead C, Girard S, Fillaut S, Jardel C, Bouillaud F, Bulteau AL, Lombès A. Agier V, et al. Among authors: jardel c. Biochim Biophys Acta. 2012 Oct;1822(10):1570-80. doi: 10.1016/j.bbadis.2012.07.002. Epub 2012 Jul 16. Biochim Biophys Acta. 2012. PMID: 22800932 Free article.
104 results