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491 results

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Page 1
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Verdura E, Schlüter A, Fernández-Eulate G, Ramos-Martín R, Zulaica M, Planas-Serra L, Ruiz M, Fourcade S, Casasnovas C, López de Munain A, Pujol A. Verdura E, et al. Among authors: pujol a. Ann Clin Transl Neurol. 2020 Jan;7(1):105-111. doi: 10.1002/acn3.50967. Epub 2019 Dec 18. Ann Clin Transl Neurol. 2020. PMID: 31854126 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: pujol a. 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.
Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy.
Fourcade S, López-Erauskin J, Galino J, Duval C, Naudi A, Jove M, Kemp S, Villarroya F, Ferrer I, Pamplona R, Portero-Otin M, Pujol A. Fourcade S, et al. Among authors: pujol a. Hum Mol Genet. 2008 Jun 15;17(12):1762-73. doi: 10.1093/hmg/ddn085. Epub 2008 Mar 14. Hum Mol Genet. 2008. PMID: 18344354
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. Among authors: pujol a. 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.
PeroxisomeDB 2.0: an integrative view of the global peroxisomal metabolome.
Schlüter A, Real-Chicharro A, Gabaldón T, Sánchez-Jiménez F, Pujol A. Schlüter A, et al. Among authors: pujol a. Nucleic Acids Res. 2010 Jan;38(Database issue):D800-5. doi: 10.1093/nar/gkp935. Epub 2009 Nov 5. Nucleic Acids Res. 2010. PMID: 19892824 Free PMC 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. Among authors: pujol a. 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: pujol a. 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.
491 results