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Page 1
Molecular pathogenesis of megalencephalic leukoencephalopathy with subcortical cysts: mutations in MLC1 cause folding defects.
Duarri A, Teijido O, López-Hernández T, Scheper GC, Barriere H, Boor I, Aguado F, Zorzano A, Palacín M, Martínez A, Lukacs GL, van der Knaap MS, Nunes V, Estévez R. Duarri A, et al. Among authors: nunes v. Hum Mol Genet. 2008 Dec 1;17(23):3728-39. doi: 10.1093/hmg/ddn269. Epub 2008 Aug 30. Hum Mol Genet. 2008. PMID: 18757878 Free PMC article.
Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis.
Feliubadaló L, Arbonés ML, Mañas S, Chillarón J, Visa J, Rodés M, Rousaud F, Zorzano A, Palacín M, Nunes V. Feliubadaló L, et al. Among authors: nunes v. Hum Mol Genet. 2003 Sep 1;12(17):2097-108. doi: 10.1093/hmg/ddg228. Epub 2003 Jul 15. Hum Mol Genet. 2003. PMID: 12915471
Thiol modification of cysteine 327 in the eighth transmembrane domain of the light subunit xCT of the heteromeric cystine/glutamate antiporter suggests close proximity to the substrate binding site/permeation pathway.
Jiménez-Vidal M, Gasol E, Zorzano A, Nunes V, Palacín M, Chillarón J. Jiménez-Vidal M, et al. Among authors: nunes v. J Biol Chem. 2004 Mar 19;279(12):11214-21. doi: 10.1074/jbc.M309866200. Epub 2004 Jan 13. J Biol Chem. 2004. PMID: 14722095 Free article.
The amino acid transporter asc-1 is not involved in cystinuria.
Pineda M, Font M, Bassi MT, Manzoni M, Borsani G, Marigo V, Fernández E, Río RM, Purroy J, Zorzano A, Nunes V, Palacín M. Pineda M, et al. Among authors: nunes v. Kidney Int. 2004 Oct;66(4):1453-64. doi: 10.1111/j.1523-1755.2004.00908.x. Kidney Int. 2004. PMID: 15458438 Free article.
The genetics of heteromeric amino acid transporters.
Palacín M, Nunes V, Font-Llitjós M, Jiménez-Vidal M, Fort J, Gasol E, Pineda M, Feliubadaló L, Chillarón J, Zorzano A. Palacín M, et al. Among authors: nunes v. Physiology (Bethesda). 2005 Apr;20:112-24. doi: 10.1152/physiol.00051.2004. Physiology (Bethesda). 2005. PMID: 15772300 Free article. Review.
Gene symbol: SLC3A1. Disease: cystinuria.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. Nunes V, et al. Hum Genet. 2005 Feb;116(3):231. Hum Genet. 2005. PMID: 15818800 No abstract available.
Gene symbol: SLC3A1. Disease: cystinuria.
Nunes V, Font-Llitjós M, Jiménez-Vidal M, Biceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacín M, Nunes V. Nunes V, et al. Hum Genet. 2005 Feb;116(3):232. Hum Genet. 2005. PMID: 15818801 No abstract available.
Gene symbol: SLC3A1. Disease: Cystinuria.
Nunes V, Font-Llitjos M, Jimenez-Vidal M, Bisceglia L, Di Perna M, de Sanctis L, Rousaud F, Zelante L, Palacin M, Nunes V. Nunes V, et al. Hum Genet. 2005 May;116(6):541. Hum Genet. 2005. PMID: 15991324 No abstract available.
Slc7a9 knockout mouse is a good cystinuria model for antilithiasic pharmacological studies.
Font-Llitjós M, Feliubadaló L, Espino M, Clèries R, Mañas S, Frey IM, Puertas S, Colell G, Palomo S, Aranda J, Visa J, Palacín M, Nunes V. Font-Llitjós M, et al. Among authors: nunes v. Am J Physiol Renal Physiol. 2007 Sep;293(3):F732-40. doi: 10.1152/ajprenal.00121.2007. Epub 2007 Jun 27. Am J Physiol Renal Physiol. 2007. PMID: 17596531 Free article.
573 results