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Page 1
Cystinuria type I: identification of eight new mutations in SLC3A1.
Bisceglia L, Purroy J, Jiménez-Vidal M, d'Adamo AP, Rousaud F, Beccia E, Penza R, Rizzoni G, Gallucci M, Palacín M, Gasparini P, Nunes V, Zelante L. Bisceglia L, et al. Among authors: purroy j. Kidney Int. 2001 Apr;59(4):1250-6. doi: 10.1046/j.1523-1755.2001.0590041250.x. Kidney Int. 2001. PMID: 11260385 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: purroy j. Nat Genet. 1999 Sep;23(1):52-7. doi: 10.1038/12652. Nat Genet. 1999. PMID: 10471498
The molecular basis of cystinuria: the role of the rBAT gene.
Palacín M, Mora C, Chillarón J, Calonge MJ, Estévez R, Torrents D, Testar X, Zorzano A, Nunes V, Purroy J, Estivill X, Gasparini P, Bisceglia L, Zelante L. Palacín M, et al. Among authors: purroy j. Amino Acids. 1996 Jun;11(2):225-46. doi: 10.1007/BF00813862. Amino Acids. 1996. PMID: 24178689
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: purroy j. Kidney Int. 2004 Oct;66(4):1453-64. doi: 10.1111/j.1523-1755.2004.00908.x. Kidney Int. 2004. PMID: 15458438 Free article.
In vivo imaging of induction of heat-shock protein-70 gene expression with fluorescence reflectance imaging and intravital confocal microscopy following brain ischaemia in reporter mice.
de la Rosa X, Santalucía T, Fortin PY, Purroy J, Calvo M, Salas-Perdomo A, Justicia C, Couillaud F, Planas AM. de la Rosa X, et al. Among authors: purroy j. Eur J Nucl Med Mol Imaging. 2013 Feb;40(3):426-38. doi: 10.1007/s00259-012-2277-7. Epub 2012 Nov 8. Eur J Nucl Med Mol Imaging. 2013. PMID: 23135322 Free article.
12 results