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Page 1
Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.
Michot C, Mamoune A, Vamecq J, Viou MT, Hsieh LS, Testet E, Lainé J, Hubert L, Dessein AF, Fontaine M, Ottolenghi C, Fouillen L, Nadra K, Blanc E, Bastin J, Candon S, Pende M, Munnich A, Smahi A, Djouadi F, Carman GM, Romero N, de Keyzer Y, de Lonlay P. Michot C, et al. Among authors: dessein af. Biochim Biophys Acta. 2013 Dec;1832(12):2103-14. doi: 10.1016/j.bbadis.2013.07.021. Epub 2013 Aug 6. Biochim Biophys Acta. 2013. PMID: 23928362 Free PMC article.
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Dessein AF, Fontaine M, Andresen BS, Gregersen N, Brivet M, Rabier D, Napuri-Gouel S, Dobbelaere D, Mention-Mulliez K, Martin-Ponthieu A, Briand G, Millington DS, Vianey-Saban C, Wanders RJ, Vamecq J. Dessein AF, et al. Orphanet J Rare Dis. 2010 Oct 5;5:26. doi: 10.1186/1750-1172-5-26. Orphanet J Rare Dis. 2010. PMID: 20923556 Free PMC article.
Mitochondrial dysfunction and lipid homeostasis.
Vamecq J, Dessein AF, Fontaine M, Briand G, Porchet N, Latruffe N, Andreolotti P, Cherkaoui-Malki M. Vamecq J, et al. Among authors: dessein af. Curr Drug Metab. 2012 Dec;13(10):1388-400. doi: 10.2174/138920012803762792. Curr Drug Metab. 2012. PMID: 22978394 Review.
A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.
Fontaine M, Dessein AF, Douillard C, Dobbelaere D, Brivet M, Boutron A, Zater M, Mention-Mulliez K, Martin-Ponthieu A, Vianey-Saban C, Briand G, Porchet N, Vamecq J. Fontaine M, et al. Among authors: dessein af. JIMD Rep. 2012;6:7-14. doi: 10.1007/8904_2011_94. Epub 2012 Jan 31. JIMD Rep. 2012. PMID: 23430932 Free PMC article.
Creatine biosynthesis and transport in health and disease.
Joncquel-Chevalier Curt M, Voicu PM, Fontaine M, Dessein AF, Porchet N, Mention-Mulliez K, Dobbelaere D, Soto-Ares G, Cheillan D, Vamecq J. Joncquel-Chevalier Curt M, et al. Among authors: dessein af. Biochimie. 2015 Dec;119:146-65. doi: 10.1016/j.biochi.2015.10.022. Epub 2015 Nov 2. Biochimie. 2015. PMID: 26542286 Review.
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J. Dessein AF, et al. Clin Chim Acta. 2017 Aug;471:101-106. doi: 10.1016/j.cca.2017.05.026. Epub 2017 May 19. Clin Chim Acta. 2017. PMID: 28532786
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Fontaine M, Kim I, Dessein AF, Mention-Mulliez K, Dobbelaere D, Douillard C, Sole G, Schiff M, Jaussaud R, Espil-Taris C, Boutron A, Wuyts W, Acquaviva C, Vianey-Saban C, Roland D, Joncquel-Chevalier Curt M, Vamecq J. Fontaine M, et al. Among authors: dessein af. Mol Genet Metab. 2018 Apr;123(4):441-448. doi: 10.1016/j.ymgme.2018.02.005. Epub 2018 Feb 12. Mol Genet Metab. 2018. PMID: 29478820
38 results