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E4F1 controls a transcriptional program essential for pyruvate dehydrogenase activity.
Lacroix M, Rodier G, Kirsh O, Houles T, Delpech H, Seyran B, Gayte L, Casas F, Pessemesse L, Heuillet M, Bellvert F, Portais JC, Berthet C, Bernex F, Brivet M, Boutron A, Le Cam L, Sardet C. Lacroix M, et al. Among authors: brivet m. Proc Natl Acad Sci U S A. 2016 Sep 27;113(39):10998-1003. doi: 10.1073/pnas.1602754113. Epub 2016 Sep 12. Proc Natl Acad Sci U S A. 2016. PMID: 27621446 Free PMC article.
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Imbard A, Boutron A, Vequaud C, Zater M, de Lonlay P, de Baulny HO, Barnerias C, Miné M, Marsac C, Saudubray JM, Brivet M. Imbard A, et al. Among authors: brivet m. Mol Genet Metab. 2011 Dec;104(4):507-16. doi: 10.1016/j.ymgme.2011.08.008. Epub 2011 Aug 18. Mol Genet Metab. 2011. PMID: 21914562
Defects in activation and transport of fatty acids.
Brivet M, Boutron A, Slama A, Costa C, Thuillier L, Demaugre F, Rabier D, Saudubray JM, Bonnefont JP. Brivet M, et al. J Inherit Metab Dis. 1999 Jun;22(4):428-41. doi: 10.1023/a:1005552106301. J Inherit Metab Dis. 1999. PMID: 10407779 Review.
101 results