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Page 1
Dominant ACO2 mutations are a frequent cause of isolated optic atrophy.
Charif M, Gueguen N, Ferré M, Elkarhat Z, Khiati S, LeMao M, Chevrollier A, Desquiret-Dumas V, Goudenège D, Bris C, Kane S, Alban J, Chupin S, Wetterwald C, Caporali L, Tagliavini F, LaMorgia C, Carbonelli M, Jurkute N, Barakat A, Gohier P, Verny C, Barth M, Procaccio V, Bonneau D, Zanlonghi X, Meunier I, Weisschuh N, Schimpf-Linzenbold S, Tonagel F, Kellner U, Yu-Wai-Man P, Carelli V, Wissinger B, Amati-Bonneau P, Reynier P; European ION Group; Lenaers G. Charif M, et al. Among authors: chupin s. Brain Commun. 2021 Apr 7;3(2):fcab063. doi: 10.1093/braincomms/fcab063. eCollection 2021. Brain Commun. 2021. PMID: 34056600 Free PMC article.
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: chupin s. Brain. 2016 Nov 1;139(11):2864-2876. doi: 10.1093/brain/aww222. Brain. 2016. PMID: 27633772
Targeted Metabolomics Reveals Early Dominant Optic Atrophy Signature in Optic Nerves of Opa1delTTAG/+ Mice.
Chao de la Barca JM, Simard G, Sarzi E, Chaumette T, Rousseau G, Chupin S, Gadras C, Tessier L, Ferré M, Chevrollier A, Desquiret-Dumas V, Gueguen N, Leruez S, Verny C, Miléa D, Bonneau D, Amati-Bonneau P, Procaccio V, Hamel C, Lenaers G, Reynier P, Prunier-Mirebeau D. Chao de la Barca JM, et al. Among authors: chupin s. Invest Ophthalmol Vis Sci. 2017 Feb 1;58(2):812-820. doi: 10.1167/iovs.16-21116. Invest Ophthalmol Vis Sci. 2017. PMID: 28159969
The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency.
Bocca C, Kane MS, Veyrat-Durebex C, Chupin S, Alban J, Kouassi Nzoughet J, Le Mao M, Chao de la Barca JM, Amati-Bonneau P, Bonneau D, Procaccio V, Lenaers G, Simard G, Chevrollier A, Reynier P. Bocca C, et al. Among authors: chupin s. Sci Rep. 2018 Aug 1;8(1):11528. doi: 10.1038/s41598-018-29972-9. Sci Rep. 2018. PMID: 30068998 Free PMC article.
Resveratrol induces a mitochondrial complex I-dependent increase in NADH oxidation responsible for sirtuin activation in liver cells.
Desquiret-Dumas V, Gueguen N, Leman G, Baron S, Nivet-Antoine V, Chupin S, Chevrollier A, Vessières E, Ayer A, Ferré M, Bonneau D, Henrion D, Reynier P, Procaccio V. Desquiret-Dumas V, et al. Among authors: chupin s. J Biol Chem. 2013 Dec 20;288(51):36662-75. doi: 10.1074/jbc.M113.466490. Epub 2013 Oct 31. J Biol Chem. 2013. PMID: 24178296 Free PMC article.
Assembly defects induce oxidative stress in inherited mitochondrial complex I deficiency.
Leman G, Gueguen N, Desquiret-Dumas V, Kane MS, Wettervald C, Chupin S, Chevrollier A, Lebre AS, Bonnefont JP, Barth M, Amati-Bonneau P, Verny C, Henrion D, Bonneau D, Reynier P, Procaccio V. Leman G, et al. Among authors: chupin s. Int J Biochem Cell Biol. 2015 Aug;65:91-103. doi: 10.1016/j.biocel.2015.05.017. Epub 2015 May 27. Int J Biochem Cell Biol. 2015. PMID: 26024641
CLUH couples mitochondrial distribution to the energetic and metabolic status.
Wakim J, Goudenege D, Perrot R, Gueguen N, Desquiret-Dumas V, Chao de la Barca JM, Dalla Rosa I, Manero F, Le Mao M, Chupin S, Chevrollier A, Procaccio V, Bonneau D, Logan DC, Reynier P, Lenaers G, Khiati S. Wakim J, et al. Among authors: chupin s. J Cell Sci. 2017 Jun 1;130(11):1940-1951. doi: 10.1242/jcs.201616. Epub 2017 Apr 19. J Cell Sci. 2017. PMID: 28424233
Warburg-like effect is a hallmark of complex I assembly defects.
Desquiret-Dumas V, Leman G, Wetterwald C, Chupin S, Lebert A, Khiati S, Le Mao M, Geffroy G, Kane MS, Chevrollier A, Goudenege D, Gadras C, Tessier L, Barth M, Leruez S, Amati-Bonneau P, Henrion D, Bonneau D, Procaccio V, Reynier P, Lenaers G, Gueguen N. Desquiret-Dumas V, et al. Among authors: chupin s. Biochim Biophys Acta Mol Basis Dis. 2019 Sep 1;1865(9):2475-2489. doi: 10.1016/j.bbadis.2019.05.011. Epub 2019 May 20. Biochim Biophys Acta Mol Basis Dis. 2019. PMID: 31121247 Free article.
34 results