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34
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for author:"Rodriguez de Cordoba S."
in Literature Citations
| Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. Vernia S., Rubio T., Heredia M., Rodriguez de Cordoba S., Sanz P. PLoS ONE 4:e5907-e5907(2009) · Mapped (3) |
| Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B. Montes T., Tortajada A., Morgan B.P., Rodriguez de Cordoba S., Harris C.L. Proc. Natl. Acad. Sci. U.S.A. 106:4366-4371(2009) · Mapped (3) |
| Lack of association between polymorphisms in C4b-binding protein and atypical haemolytic uraemic syndrome in the Spanish population. Martinez-Barricarte R., Goicoechea de Jorge E., Montes T., Layana A.G., Rodriguez de Cordoba S. Clin. Exp. Immunol. 155:59-64(2009) · Mapped (5) |
| Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritis. Montes T., Goicoechea de Jorge E., Ramos R., Goma M., Pujol O., Sanchez-Corral P., Rodriguez de Cordoba S. Mol. Immunol. 45:2897-2904(2008) · Mapped (4) |
| Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway. Solaz-Fuster M.C., Gimeno-Alcaniz J.V., Ros S., Fernandez-Sanchez M.E., Garcia-Fojeda B., Criado Garcia O., Vilchez D., Dominguez J., Garcia-Rocha M., Sanchez-Piris M. et al. Hum. Mol. Genet. 17:667-678(2008) · Mapped (6) |
| Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy. Vilchez D., Ros S., Cifuentes D., Pujadas L., Valles J., Garcia-Fojeda B., Criado-Garcia O., Fernandez-Sanchez E., Medrano-Fernandez I., Dominguez J. et al. Nat. Neurosci. 10:1407-1413(2007) · Mapped (3) |
| Membrane cofactor protein (MCP, CD46) binding to clinical isolates of Streptococcus pyogenes: binding to M type 18 strains is independent of Emm or Enn proteins. Feito M.J., Sanchez A., Oliver M.A., Perez-Caballero D., Rodriguez de Cordoba S., Alberti S., Rojo J.M. Mol. Immunol. 44:3571-3579(2007) · Mapped (4) |
| Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants. Moreno-Loshuertos R., Acin-Perez R., Fernandez-Silva P., Movilla N., Perez-Martos A., Rodriguez de Cordoba S., Gallardo M.E., Enriquez J.A. Nat. Genet. 38:1261-1268(2006) · UniProtKB (14) |
| m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors. Gallardo M.E., Moreno-Loshuertos R., Lopez C., Casqueiro M., Silva J., Bonilla F., Rodriguez de Cordoba S., Enriquez J.A. Hum. Mutat. 27:575-582(2006) · Mapped (2) |
| De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Heinen S., Sanchez-Corral P., Jackson M.S., Strain L., Goodship J.A., Kemp E.J., Skerka C., Jokiranta T.S., Meyers K., Wagner E. et al. Hum. Mutat. 27:292-293(2006) · Mapped (4) |
| Genomic sequence of the pathogenic and allergenic filamentous fungus Aspergillus fumigatus. Nierman W.C., Pain A., Anderson M.J., Wortman J.R., Kim H.S., Arroyo J., Berriman M., Abe K., Archer D.B., Bermejo C. et al. Nature 438:1151-1156(2005) · UniProtKB (9,629) |
| Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 families. Ladjouze-Rezig A., Rodriguez de Cordoba S., Aquaron R. Joint Bone Spine 73:284-292(2006) · Mapped (4) |
| Lafora disease due to EPM2B mutations: a clinical and genetic study. Gomez-Abad C., Gomez-Garre P., Gutierrez-Delicado E., Saygi S., Michelucci R., Tassinari C.A., Rodriguez de Cordoba S., Serratosa J.M. Neurology 64:982-986(2005) · UniProtKB (1) |
| Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia. Gallardo M.E., Rodriguez De Cordoba S., Schneider A.S., Dwyer M.A., Ayuso C., Bovolenta P. Am. J. Med. Genet. A 129:92-94(2004) · UniProtKB (1) |
| The human complement factor H: functional roles, genetic variations and disease associations. Rodriguez de Cordoba S., Esparza-Gordillo J., Goicoechea de Jorge E., Lopez-Trascasa M., Sanchez-Corral P. Mol. Immunol. 41:355-367(2004) · Mapped (4) |
| Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. Fernandez-Sanchez M.E., Criado-Garcia O., Heath K.E., Garcia-Fojeda B., Medrano-Fernandez I., Gomez-Garre P., Sanz P., Serratosa J.M., Rodriguez de Cordoba S. Hum. Mol. Genet. 12:3161-3171(2003) · UniProtKB (2) |
| Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. Uyguner O., Goicoechea de Jorge E., Cefle A., Baykal T., Kayserili H., Cefle K., Demirkol M., Yuksel-Apak M., Rodriguez de Cordoba S., Wollnik B. J. Inherit. Metab. Dis. 26:17-23(2003) · Mapped (4) |
| Cloning, characterization and chromosome mapping of the human SMAP1 gene. Marcos I., Borrego S., Rodriguez de Cordoba S., Galan J.J., Antinolo G. Gene 292:167-171(2002) · UniProtKB (2) |
| Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions. Gomez-Garre P., Sanz Y., Rodriguez de Cordoba S.R., Serratosa J.M. Eur. J. Hum. Genet. 8:946-954(2000) · UniProtKB (1) |
| Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. Perez-Caballero D., Gonzalez-Rubio C., Gallardo M.E., Vera M., Lopez-Trascasa M., Rodriguez de Cordoba S., Sanchez-Corral P. Am. J. Hum. Genet. 68:478-484(2001) · UniProtKB (1) |
| The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. Gallardo M.E., Desviat L.R., Rodriguez J.M., Esparza-Gordillo J., Perez-Cerda C., Perez B., Rodriguez-Pombo P., Criado O., Sanz R., Morton D.H. et al. Am. J. Hum. Genet. 68:334-346(2001) · UniProtKB (2) · Mapped (3) |
| Crystal structure of human homogentisate dioxygenase. Titus G.P., Mueller H.A., Burgner J., Rodriguez de Cordoba S., Penalva M.A., Timm D.E. Nat. Struct. Biol. 7:542-546(2000) · UniProtKB (1) |
| Molecular basis for factor H and FHL-1 deficiency in an Italian family. Sanchez-Corral P., Bellavia D., Amico L., Brai M., Rodriguez de Cordoba S. Immunogenetics 51:366-369(2000) · UniProtKB (1) |
| Familial syndromic esophageal atresia maps to 2p23-p24. Celli J., Van Beusekom E., Hennekam R.C.M., Gallardo M.E., Smeets D.F.C.M., Rodriguez de Cordoba S., Innis J.W., Frydman M., Konig R., Kingston H. et al. Am. J. Hum. Genet. 66:436-444(2000) · UniProtKB (1) |
| Mutational analysis of the HGO gene in Finnish alkaptonuria patients. Beltran-Valero de Bernabe D., Peterson P., Luopajarvi K., Matintalo P., Alho A., Konttinen Y., Krohn K., Rodriguez de Cordoba S., Ranki A. J. Med. Genet. 36:922-923(1999) · UniProtKB (1) |
