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Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
Courtois S, Angelini C, M Durand C, Dias Amoedo N, Courreges A, Dumon E, Le Quang M, Goizet C, Martin-Negrier ML, Rossignol R, Lacombe D, Coupry I, Trimouille A. Courtois S, et al. Among authors: dumon e. Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166856. doi: 10.1016/j.bbadis.2023.166856. Epub 2023 Aug 26. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 37640115
HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.
Dard L, Hubert C, Esteves P, Blanchard W, Bou About G, Baldasseroni L, Dumon E, Angelini C, Delourme M, Guyonnet-Dupérat V, Claverol S, Fontenille L, Kissa K, Séguéla PE, Thambo JB, Nicolas L, Herault Y, Bellance N, Dias Amoedo N, Magdinier F, Sorg T, Lacombe D, Rossignol R. Dard L, et al. Among authors: dumon e. J Clin Invest. 2022 Apr 15;132(8):e131053. doi: 10.1172/JCI131053. J Clin Invest. 2022. PMID: 35230976 Free PMC article.
Targeting the mitochondrial trifunctional protein restrains tumor growth in oxidative lung carcinomas.
Amoedo ND, Sarlak S, Obre E, Esteves P, Bégueret H, Kieffer Y, Rousseau B, Dupis A, Izotte J, Bellance N, Dard L, Redonnet-Vernhet I, Punzi G, Rodrigues MF, Dumon E, Mafhouf W, Guyonnet-Dupérat V, Gales L, Palama T, Bellvert F, Dugot-Senan N, Claverol S, Baste JM, Lacombe D, Rezvani HR, Pierri CL, Mechta-Grigoriou F, Thumerel M, Rossignol R. Amoedo ND, et al. Among authors: dumon e. J Clin Invest. 2021 Jan 4;131(1):e133081. doi: 10.1172/JCI133081. J Clin Invest. 2021. PMID: 33393495 Free PMC article.
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.
Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Da Costa B, Le Guédard M, Stojkovic T, Loundon N, Rouillon I, Nadjar Y, Letellier T, Jonard L, Marlin S, Rocher C. Gutiérrez Cortés N, et al. Among authors: dumon e. Hum Mol Genet. 2020 Apr 15;29(6):980-989. doi: 10.1093/hmg/ddaa020. Hum Mol Genet. 2020. PMID: 32011699