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OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
Sturm G, Karan KR, Monzel AS, Santhanam B, Taivassalo T, Bris C, Ware SA, Cross M, Towheed A, Higgins-Chen A, McManus MJ, Cardenas A, Lin J, Epel ES, Rahman S, Vissing J, Grassi B, Levine M, Horvath S, Haller RG, Lenaers G, Wallace DC, St-Onge MP, Tavazoie S, Procaccio V, Kaufman BA, Seifert EL, Hirano M, Picard M. Sturm G, et al. Among authors: lenaers g. Commun Biol. 2023 Jan 12;6(1):22. doi: 10.1038/s42003-022-04303-x. Commun Biol. 2023. PMID: 36635485 Free PMC article.
OPA1-associated disorders: phenotypes and pathophysiology.
Amati-Bonneau P, Milea D, Bonneau D, Chevrollier A, Ferré M, Guillet V, Gueguen N, Loiseau D, de Crescenzo MA, Verny C, Procaccio V, Lenaers G, Reynier P. Amati-Bonneau P, et al. Among authors: lenaers g. Int J Biochem Cell Biol. 2009 Oct;41(10):1855-65. doi: 10.1016/j.biocel.2009.04.012. Epub 2009 Apr 21. Int J Biochem Cell Biol. 2009. PMID: 19389487 Free article. Review.
Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.
Charif M, Titah SM, Roubertie A, Desquiret-Dumas V, Gueguen N, Meunier I, Leid J, Massal F, Zanlonghi X, Mercier J, Raynaud de Mauverger E, Procaccio V, Mousson de Camaret B, Lenaers G, Hamel CP. Charif M, et al. Among authors: lenaers g. Am J Med Genet A. 2015 Oct;167A(10):2366-74. doi: 10.1002/ajmg.a.37188. Epub 2015 Jun 10. Am J Med Genet A. 2015. PMID: 26061759
OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology.
Chao de la Barca JM, Prunier-Mirebeau D, Amati-Bonneau P, Ferré M, Sarzi E, Bris C, Leruez S, Chevrollier A, Desquiret-Dumas V, Gueguen N, Verny C, Hamel C, Miléa D, Procaccio V, Bonneau D, Lenaers G, Reynier P. Chao de la Barca JM, et al. Among authors: lenaers g. Neurobiol Dis. 2016 Jun;90:20-6. doi: 10.1016/j.nbd.2015.08.015. Epub 2015 Aug 23. Neurobiol Dis. 2016. PMID: 26311407
The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.
Chao de la Barca JM, Simard G, Amati-Bonneau P, Safiedeen Z, Prunier-Mirebeau D, Chupin S, Gadras C, Tessier L, Gueguen N, Chevrollier A, Desquiret-Dumas V, Ferré M, Bris C, Kouassi Nzoughet J, Bocca C, Leruez S, Verny C, Miléa D, Bonneau D, Lenaers G, Martinez MC, Procaccio V, Reynier P. Chao de la Barca JM, et al. Among authors: lenaers g. Brain. 2016 Nov 1;139(11):2864-2876. doi: 10.1093/brain/aww222. Brain. 2016. PMID: 27633772
The addition of ketone bodies alleviates mitochondrial dysfunction by restoring complex I assembly in a MELAS cellular model.
Frey S, Geffroy G, Desquiret-Dumas V, Gueguen N, Bris C, Belal S, Amati-Bonneau P, Chevrollier A, Barth M, Henrion D, Lenaers G, Bonneau D, Reynier P, Procaccio V. Frey S, et al. Among authors: lenaers g. Biochim Biophys Acta Mol Basis Dis. 2017 Jan;1863(1):284-291. doi: 10.1016/j.bbadis.2016.10.028. Epub 2016 Nov 1. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27815040 Free article.
204 results