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A Metabolic Signature of Mitochondrial Dysfunction Revealed through a Monogenic Form of Leigh Syndrome.
Thompson Legault J, Strittmatter L, Tardif J, Sharma R, Tremblay-Vaillancourt V, Aubut C, Boucher G, Clish CB, Cyr D, Daneault C, Waters PJ; LSFC Consortium; Vachon L, Morin C, Laprise C, Rioux JD, Mootha VK, Des Rosiers C. Thompson Legault J, et al. Cell Rep. 2015 Nov 3;13(5):981-9. doi: 10.1016/j.celrep.2015.09.054. Epub 2015 Oct 22. Cell Rep. 2015. PMID: 26565911 Free PMC article.
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.
Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, Mootha VK, Tiranti V. Leoni V, et al. Mol Genet Metab. 2012 Mar;105(3):463-71. doi: 10.1016/j.ymgme.2011.12.005. Epub 2011 Dec 14. Mol Genet Metab. 2012. PMID: 22221393 Free PMC article.