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Structural and functional analysis of mutations in alkaptonuria.
Rodríguez JM, Timm DE, Titus GP, Beltrán-Valero De Bernabé D, Criado O, Mueller HA, Rodríguez De Córdoba S, Peñalva MA. Rodríguez JM, et al. Among authors: rodriguez de cordoba s. Hum Mol Genet. 2000 Sep 22;9(15):2341-50. doi: 10.1093/oxfordjournals.hmg.a018927. Hum Mol Genet. 2000. PMID: 11001939
The molecular basis of alkaptonuria.
Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, Rodríguez de Córdoba S. Fernández-Cañón JM, et al. Among authors: rodriguez de cordoba s. Nat Genet. 1996 Sep;14(1):19-24. doi: 10.1038/ng0996-19. Nat Genet. 1996. PMID: 8782815
The human homogentisate 1,2-dioxygenase (HGO) gene.
Granadino B, Beltrán-Valero de Bernabé D, Fernández-Cañón JM, Peñalva MA, Rodríguez de Córdoba S. Granadino B, et al. Among authors: rodriguez de cordoba s. Genomics. 1997 Jul 15;43(2):115-22. doi: 10.1006/geno.1997.4805. Genomics. 1997. PMID: 9244427
Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
Beltrán-Valero de Bernabé D, Peterson P, Luopajärvi K, Matintalo P, Alho A, Konttinen Y, Krohn K, Rodríguez de Córdoba S, Ranki A. Beltrán-Valero de Bernabé D, et al. Among authors: rodriguez de cordoba s. J Med Genet. 1999 Dec;36(12):922-3. J Med Genet. 1999. PMID: 10594001 Free PMC article.
Functional analysis of MCCA and MCCB mutations causing methylcrotonylglycinuria.
Desviat LR, Pérez-Cerdá C, Pérez B, Esparza-Gordillo J, Rodríguez-Pombo P, Peñalva MA, Rodríguez De Córdoba S, Ugarte M. Desviat LR, et al. Among authors: rodriguez pombo p, rodriguez de cordoba s. Mol Genet Metab. 2003 Nov;80(3):315-20. doi: 10.1016/S1096-7192(03)00130-6. Mol Genet Metab. 2003. PMID: 14680978
Crystal structure of human homogentisate dioxygenase.
Titus GP, Mueller HA, Burgner J, Rodríguez De Córdoba S, Peñalva MA, Timm DE. Titus GP, et al. Among authors: rodriguez de cordoba s. Nat Struct Biol. 2000 Jul;7(7):542-6. doi: 10.1038/76756. Nat Struct Biol. 2000. PMID: 10876237
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
Criado O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, Vernia S, San Millán B, Heredia M, Romá-Mateo C, Mouron S, Juana-López L, Domínguez M, Navarro C, Serratosa JM, Sanchez M, Sanz P, Bovolenta P, Knecht E, Rodriguez de Cordoba S. Criado O, et al. Among authors: rodriguez de cordoba s. Hum Mol Genet. 2012 Apr 1;21(7):1521-33. doi: 10.1093/hmg/ddr590. Epub 2011 Dec 20. Hum Mol Genet. 2012. PMID: 22186026
191 results