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Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A. Pant DC, et al. Among authors: fourcade s. J Clin Invest. 2019 Mar 1;129(3):1240-1256. doi: 10.1172/JCI123959. Epub 2019 Feb 11. J Clin Invest. 2019. PMID: 30620337 Free PMC article.
PeroxisomeDB: a database for the peroxisomal proteome, functional genomics and disease.
Schlüter A, Fourcade S, Domènech-Estévez E, Gabaldón T, Huerta-Cepas J, Berthommier G, Ripp R, Wanders RJ, Poch O, Pujol A. Schlüter A, et al. Among authors: fourcade s. Nucleic Acids Res. 2007 Jan;35(Database issue):D815-22. doi: 10.1093/nar/gkl935. Epub 2006 Nov 28. Nucleic Acids Res. 2007. PMID: 17135190 Free PMC article.
A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis.
Fourcade S, Ruiz M, Camps C, Schlüter A, Houten SM, Mooyer PA, Pàmpols T, Dacremont G, Wanders RJ, Giròs M, Pujol A. Fourcade S, et al. Am J Physiol Endocrinol Metab. 2009 Jan;296(1):E211-21. doi: 10.1152/ajpendo.90736.2008. Epub 2008 Oct 14. Am J Physiol Endocrinol Metab. 2009. PMID: 18854420 Free article.
Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy.
Fourcade S, Ruiz M, Guilera C, Hahnen E, Brichta L, Naudi A, Portero-Otín M, Dacremont G, Cartier N, Wanders R, Kemp S, Mandel JL, Wirth B, Pamplona R, Aubourg P, Pujol A. Fourcade S, et al. Hum Mol Genet. 2010 May 15;19(10):2005-14. doi: 10.1093/hmg/ddq082. Epub 2010 Feb 23. Hum Mol Genet. 2010. PMID: 20179078 Clinical Trial.
Oxidative damage compromises energy metabolism in the axonal degeneration mouse model of X-adrenoleukodystrophy.
Galino J, Ruiz M, Fourcade S, Schlüter A, López-Erauskin J, Guilera C, Jove M, Naudi A, García-Arumí E, Andreu AL, Starkov AA, Pamplona R, Ferrer I, Portero-Otin M, Pujol A. Galino J, et al. Among authors: fourcade s. Antioxid Redox Signal. 2011 Oct 15;15(8):2095-107. doi: 10.1089/ars.2010.3877. Epub 2011 Jun 8. Antioxid Redox Signal. 2011. PMID: 21453200 Free PMC article.
71 results