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Page 1
Implication of folate deficiency in CYP2U1 loss of function.
Pujol C, Legrand A, Parodi L, Thomas P, Mochel F, Saracino D, Coarelli G, Croon M, Popovic M, Valet M, Villain N, Elshafie S, Issa M, Zuily S, Renaud M, Marelli-Tosi C, Legendre M, Trimouille A, Kemlin I, Mathieu S, Gleeson JG, Lamari F, Galatolo D, Alkouri R, Tse C, Rodriguez D, Ewenczyk C, Fellmann F, Kuntzer T, Blond E, El Hachimi KH, Darios F, Seyer A, Gazi AD, Giavalisco P, Perin S, Boucher JL, Le Corre L, Santorelli FM, Goizet C, Zaki MS, Picaud S, Mourier A, Steculorum SM, Mignot C, Durr A, Trifunovic A, Stevanin G. Pujol C, et al. Among authors: mourier a. J Exp Med. 2021 Nov 1;218(11):e20210846. doi: 10.1084/jem.20210846. Epub 2021 Sep 21. J Exp Med. 2021. PMID: 34546337 Free PMC article.
Loss of UCP2 attenuates mitochondrial dysfunction without altering ROS production and uncoupling activity.
Kukat A, Dogan SA, Edgar D, Mourier A, Jacoby C, Maiti P, Mauer J, Becker C, Senft K, Wibom R, Kudin AP, Hultenby K, Flögel U, Rosenkranz S, Ricquier D, Kunz WS, Trifunovic A. Kukat A, et al. Among authors: mourier a. PLoS Genet. 2014 Jun 19;10(6):e1004385. doi: 10.1371/journal.pgen.1004385. eCollection 2014 Jun. PLoS Genet. 2014. PMID: 24945157 Free PMC article.
Loss of LRPPRC causes ATP synthase deficiency.
Mourier A, Ruzzenente B, Brandt T, Kühlbrandt W, Larsson NG. Mourier A, et al. Hum Mol Genet. 2014 May 15;23(10):2580-92. doi: 10.1093/hmg/ddt652. Epub 2014 Jan 6. Hum Mol Genet. 2014. PMID: 24399447 Free PMC article.
Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.
Freyer C, Stranneheim H, Naess K, Mourier A, Felser A, Maffezzini C, Lesko N, Bruhn H, Engvall M, Wibom R, Barbaro M, Hinze Y, Magnusson M, Andeer R, Zetterström RH, von Döbeln U, Wredenberg A, Wedell A. Freyer C, et al. Among authors: mourier a. J Med Genet. 2015 Nov;52(11):779-83. doi: 10.1136/jmedgenet-2015-102986. Epub 2015 Jun 17. J Med Genet. 2015. PMID: 26084283 Free PMC article.
Mitofusin 2 is required to maintain mitochondrial coenzyme Q levels.
Mourier A, Motori E, Brandt T, Lagouge M, Atanassov I, Galinier A, Rappl G, Brodesser S, Hultenby K, Dieterich C, Larsson NG. Mourier A, et al. J Cell Biol. 2015 Feb 16;208(4):429-42. doi: 10.1083/jcb.201411100. J Cell Biol. 2015. PMID: 25688136 Free PMC article.
Obesity-induced CerS6-dependent C16:0 ceramide production promotes weight gain and glucose intolerance.
Turpin SM, Nicholls HT, Willmes DM, Mourier A, Brodesser S, Wunderlich CM, Mauer J, Xu E, Hammerschmidt P, Brönneke HS, Trifunovic A, LoSasso G, Wunderlich FT, Kornfeld JW, Blüher M, Krönke M, Brüning JC. Turpin SM, et al. Among authors: mourier a. Cell Metab. 2014 Oct 7;20(4):678-86. doi: 10.1016/j.cmet.2014.08.002. Cell Metab. 2014. PMID: 25295788 Free article.
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