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Page 1
Megalencephalic leukoencephalopathy with subcortical cysts: A personal biochemical retrospective.
Estévez R, Elorza-Vidal X, Gaitán-Peñas H, Pérez-Rius C, Armand-Ugón M, Alonso-Gardón M, Xicoy-Espaulella E, Sirisi S, Arnedo T, Capdevila-Nortes X, López-Hernández T, Montolio M, Duarri A, Teijido O, Barrallo-Gimeno A, Palacín M, Nunes V. Estévez R, et al. Eur J Med Genet. 2018 Jan;61(1):50-60. doi: 10.1016/j.ejmg.2017.10.013. Epub 2017 Oct 25. Eur J Med Genet. 2018. PMID: 29079544 Free article. Review.
Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance.
Torrents D, Estévez R, Pineda M, Fernández E, Lloberas J, Shi YB, Zorzano A, Palacín M. Torrents D, et al. Among authors: estevez r. J Biol Chem. 1998 Dec 4;273(49):32437-45. doi: 10.1074/jbc.273.49.32437. J Biol Chem. 1998. PMID: 9829974 Free article.
Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids.
Pineda M, Fernández E, Torrents D, Estévez R, López C, Camps M, Lloberas J, Zorzano A, Palacín M. Pineda M, et al. Among authors: estevez r. J Biol Chem. 1999 Jul 9;274(28):19738-44. doi: 10.1074/jbc.274.28.19738. J Biol Chem. 1999. PMID: 10391915 Free article.
Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT.
Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium. Feliubadaló L, et al. Among authors: estevez r. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498
Lysinuric protein intolerance: mechanisms of pathophysiology.
Palacín M, Bertran J, Chillarón J, Estévez R, Zorzano A. Palacín M, et al. Among authors: estevez r. Mol Genet Metab. 2004 Apr;81 Suppl 1:S27-37. doi: 10.1016/j.ymgme.2003.11.015. Mol Genet Metab. 2004. PMID: 15050971 Review.
221 results