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Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy.
Boutet E, El Mourabit H, Prot M, Nemani M, Khallouf E, Colard O, Maurice M, Durand-Schneider AM, Chrétien Y, Grès S, Wolf C, Saulnier-Blache JS, Capeau J, Magré J. Boutet E, et al. Among authors: maurice m. Biochimie. 2009 Jun;91(6):796-803. doi: 10.1016/j.biochi.2009.01.011. Epub 2009 Feb 6. Biochimie. 2009. PMID: 19278620
Effects of cellular, chemical, and pharmacological chaperones on the rescue of a trafficking-defective mutant of the ATP-binding cassette transporter proteins ABCB1/ABCB4.
Gautherot J, Durand-Schneider AM, Delautier D, Delaunay JL, Rada A, Gabillet J, Housset C, Maurice M, Aït-Slimane T. Gautherot J, et al. Among authors: maurice m. J Biol Chem. 2012 Feb 10;287(7):5070-8. doi: 10.1074/jbc.M111.275438. Epub 2011 Dec 19. J Biol Chem. 2012. PMID: 22184139 Free PMC article.
Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.
Gautherot J, Delautier D, Maubert MA, Aït-Slimane T, Bolbach G, Delaunay JL, Durand-Schneider AM, Firrincieli D, Barbu V, Chignard N, Housset C, Maurice M, Falguières T. Gautherot J, et al. Among authors: maurice m. Hepatology. 2014 Aug;60(2):610-21. doi: 10.1002/hep.27170. Epub 2014 May 19. Hepatology. 2014. PMID: 24723470
Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
Delaunay JL, Bruneau A, Hoffmann B, Durand-Schneider AM, Barbu V, Jacquemin E, Maurice M, Housset C, Callebaut I, Aït-Slimane T. Delaunay JL, et al. Among authors: maurice m. Hepatology. 2017 Feb;65(2):560-570. doi: 10.1002/hep.28929. Epub 2016 Dec 24. Hepatology. 2017. PMID: 28012258
290 results