Genetic mitochondrial disorders
Together with a multidisciplinary team, we pursue studies aimed at better understanding the pathogenesis of Leigh Syndrome French Canadian (LSFC), identify biomarkers as well as therapeutic options to improve patient care. We use multiple approaches to conduct detailed mechanistic studies in mouse models, cells lines and tissues from our LSFC biobank.
Relevant publications
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Adaptive optimization of the OXPHOS assembly line partially compensates lrpprc-dependent mitochondrial translation defects in mice. Cuillerier A, Ruiz M, Daneault C, Forest A, Rossi J, Vasam G, Cairns G, Cadete V; LSFC Consortium; Des Rosiers C, Burelle Y.Commun Biol. 2021 Aug 19;4(1):989. doi: 0.1038/s42003-021-02492-5.PMID: 34413467
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Lipidomics unveils lipid dyshomeostasis and low circulating plasmalogens as biomarkers in a monogenic mitochondrial disorders. Ruiz M, Cuillerier A, Daneault C, Deschênes S, Frayne IR, Bouchard B, Forest A, Legault JT; LSFC Consortium; Vaz FM, Rioux JD, Burelle Y, Des Rosiers C.JCI Insight. 2019 Jul 25;4(14):e123231. doi: 10.1172/jci.insight.123231. eCollection 2019 Jul 25.PMID: 31341105
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Loss of hepatic LRPPRC alters mitochondrial bioenergetics, regulation of permeability transition and trans-membrane ROS diffusion. Cuillerier A, Honarmand S, Cadete VJJ, Ruiz M, Forest A, Deschênes S, Beauchamp C; LSFC Consortium; Charron G, Rioux JD, Des Rosiers C, Shoubridge EA, Burelle Y.Hum Mol Genet. 2017 Aug 15;26(16):3186-3201. doi: 0.1093/hmg/ddx202.PMID: 28575497
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Mitochondrial vulnerability and increased susceptibility to nutrient-induced cytotoxicity in fibroblasts from leigh syndrome French canadian patients. Burelle Y, Bemeur C, Rivard ME, Thompson Legault J, Boucher G; LSFC Consortium; Morin C, Coderre L, Des Rosiers C.PLoS One. 2015 Apr 2;10(3):e0120767. doi: 10.1371/journal.pone.0120767. eCollection 2015.PMID: 25835550