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1closedAccessJul-2010Laforin, the most common protein mutated in Lafora disease, regulates autophagyAguado, Carmen; Criado-García, Olga ; Vernia, Santiago ; Boya, Patricia ; Sanz, Pascual  ; Rodríguez de Córdoba, Santiago ; Knecht, Erwin; Rubinsztein, David C.artículo
2openAccess1019338108.full.pdf.jpg9-May-2011Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease riskHeurich, Meike; Martínez-Barricarte, Rubén ; Francis, Nigel J.; Roberts, Dawn L.; Rodríguez de Córdoba, Santiago ; Morgan, B. Paul; Harris, Claire L.artículo
3closedAccessrestringido.pdf.jpgJun-2009Successful renal transplantation in a patient with atypical hemolytic uremic syndrome carrying mutations in both Factor I and MCP (CD46)Cruzado, Josep María; Rodríguez de Córdoba, Santiago ; Melilli, Edoardo; Bestard, Oriol; Rama, Inés; Sánchez-Corral, Pilar ; López-Trascasa, Margarita; Navarro, Isabel; Torras, Josep; Gomà, Marta; Grinyó, Josep Maríaartículo
4closedAccessrestringido.pdf.jpg1-Dec-2009Coexistence of closed and open conformations of complement factor B in the alternative pathway C3bB(Mg2+) proconvertaseTorreira, Eva ; Tortajada, Agustín ; Montes, Tamara ; Rodríguez de Córdoba, Santiago ; Llorca, Óscar artículo
5closedAccessFMC Nefrología e Hipertensión 3 (9)(8-21).pdf.jpgNov-2007Predisposición genética al síndrome hemolítico urémico atípico. Avances en la elucidación de mecanismos patogénicos y su relevancia en el desarrollo de estrategias terapéuticasRodríguez de Córdoba, Santiago ; Goicoechea de Jorge, Elena artículo
6closedAccessrestringido.pdf.jpgJul-2007Membrane Cofactor Protein (MCP, CD46) binding to clinical isolates of Streptococcus pyogenes: Binding to M type 18 strains is independient of Emm or Enn proteinsFeito, María José; Sánchez, Alejandra; Oliver, María Antonia; Pérez-Caballero, David; Rodríguez de Córdoba, Santiago ; Albertí, Sebastián; Rojo, José María artículo
7closedAccessrestringido.pdf.jpg1-May-2012Laforin and malin deletions in mice produce similar neurologic impairmentsGarcía-Cabrero, Ana M.; Marinas, Ainhoa; Guerrero, Rosa; Rodríguez de Córdoba, Santiago ; Serratosa, José María; Sánchez, Marina P.artículo
8closedAccessrestringido.pdf.jpg1-Oct-2010Impaired autophagy in Lafora diseaseKnecht, Erwin; Aguado, Carmen; Sarkar, Sovan; Korolchuk, Viktor I.; Criado-García, Olga ; Vernia, Santiago ; Boya, Patricia ; Sanz, Pascual  ; Rodríguez de Córdoba, Santiago ; Rubinsztein, David C.artículo
9openAccessNeurology_de Córdoba_2007.pdf.jpgApr-2007Hepatic disease as the first manifestation of progressive myoclonus epilepsy of LaforaGómez-Garre, Pilar; Gutiérrez-Delicado, Eva; Gómez-Abad, Cristina; Morales-Corraliza, José; Villanueva, Vicente E.; Rodríguez de Córdoba, Santiago ; Larrauri, Javier; Gutiérrez, Manuel Carolina; Berciano, Javier; Serratosa, José Maríaartículo
10openAccess2012_Rodriguez de Cordoba et al_Immunobiology.pdf.jpgNov-2012Complement dysregulation and disease: from genes and proteins to diagnostics and drugsRodríguez de Córdoba, Santiago ; Tortajada, Agustín ; Harris, Claire L.; Morgan, B. Paulartículo
11closedAccessrestringido.pdf.jpgOct-2010Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical Hemolytic Uremic SyndromeHakobyan, Svetlana; Tortajada, Agustín ; Harris, Claire L.; Rodríguez de Córdoba, Santiago ; Morgan, B. Paulartículo
12closedAccessrestringido.pdf.jpg1-Sep-2007New Approaches to the Treatment of Dense Deposit DiseaseSmith, Richard J.; Alexander, Jessy; Rodríguez de Córdoba, Santiago ; Zipfel, Peter F.artículo
13closedAccess4-Jan-2012Antibody directs properdin-dependent activation of the complement alternative pathway in a mouse model of abdominal aortic aneurysmZhou, H-fang; Yana, Huimin; Stover, Cordula M.; Montes, Tamara ; Rodríguez de Córdoba, Santiago ; Song, Wen-Chao; Wu, Xiaobo; Thompson, Robert W.; Schwaeble, Wilhelm J.; Atkinson, John P.; Hourcade, Dennis E.; Phama, Christine T. N.artículo
14openAccessClin Kidney J-2012-Nozal-133-6.pdf.jpgApr-2012Anti-factor H antibody affecting factor H cofactor activity in a patient with dense deposit diseaseNozal, Pilar; Strobel, Stefanie; Ibernon, Meritxell; López, Dolores; Sánchez-Corral, Pilar ; Rodríguez de Córdoba, Santiago ; Józsi, Mihály; López-Trascasa, Margaritaartículo
15openAccessJCI43343 v1.pdf.jpg13-Sep-2010Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulationMartínez-Barricarte, Rubén ; Heurich, Meike; Valdés-Cañedo, Francisco; Vázquez-Martul, Eduardo; Torreira, Eva ; Montes, Tamara ; Tortajada, Agustín ; Pinto, Sheila ; López-Trascasa, Margarita; Morgan, B. Paul; Llorca, Óscar ; Harris, Claire L.; Rodríguez de Córdoba, Santiago artículo
16openAccessspontaneous.pdf.jpg11-Jun-2007Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domainsPickering, Matthew C.; Goicoechea de Jorge, Elena ; Martínez-Barricarte, Rubén ; Recalde, Sergio; García-Layana, Alfredo; Rose, Kirsten L.; Moss, Jill; Walport, Mark J.; Cook, H. Terence; Rodríguez de Córdoba, Santiago ; Botto, Marinaartículo
17openAccessWO2009050321A1.pdf.jpg23-Apr-2009Laforin-based cancer diagnosis and treatment method, biological elements for implementing same and use thereofRodríguez de Córdoba, Santiago ; Ramón y Cajal Agüeras, Santiagopatente
18closedAccessrestringido.pdf.jpgMay-2008Measurement of factor H variants in plasma using variant-specific monoclonal antibodies: application to assessing risk of age-related macular degenerationHakobyan, Svetlana; Harris, Claire L.; Tortajada, Agustín ; Goicoechea de Jorge, Elena ; García-Layana, Alfredo; Fernández-Robredo, Patricia; Rodríguez de Córdoba, Santiago ; Morgan, B. Paulartículo
19openAccessJBC_Complemented factor_2008.pdf.jpg7-Nov-2008Complement factor H binds to denatured rather than to native pentameric C-reactive proteinHakobyan, Svetlana; Harris, Claire L.; Van Den Berg, Carmen W.; Fernández-Alonso, M. Carmen ; Goicoechea de Jorge, Elena ; Rodríguez de Córdoba, Santiago ; Rivas, Germán ; Mangione, Palma; Pepys, Mark B.; Morgan, B. Paulartículo
20closedAccessrestringido.pdf.jpg4-Sep-2010Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritisGale, Daniel P.; Goicoechea de Jorge, Elena ; Cook, H. Terence; Martínez-Barricarte, Rubén ; Hadjisavvas, Andreas; McLean, Adam G.; Pusey, Charles D.; Pierides, Alkis; Kyriacou, Kyriacos; Athanasiou, Yiannis; Voskarides, Konstantinos; Deltas, Constantinos; Palmer, Andrew; Fremeaux-Bacchi, Veronique; Rodríguez de Córdoba, Santiago ; Maxwell, Patrick H.; Pickering, Matthew C.artículo
21closedAccessrestringido.pdf.jpgMay-2009Alkaptonuria, Ochronosis and Ochronostic Arthropathy in Mainland France and the Reunion Island. A report of Clinical and Molecular Findings in 29 patientsAquaron, Robert; Rodríguez de Córdoba, Santiago ; Peñalva, Miguel Ángel ; Badens, Catherine; Roux, Hubertartículo
22closedAccessrestringido.pdf.jpgDec-2008Binding of complement regulatory proteins to Group A StreptococcusOliver, María Antonia; Rojo, José María ; Rodríguez de Córdoba, Santiago ; Albertí, Sebastiánartículo
23closedAccess11-Nov-2011Genetics and ARMD: from the laboratory to the Consulting roomLayana, Alfredo García; Zarranz-Ventura, Javier; Fernández-Robredo, Patricia; Recalde, Sergio; Rodríguez de Córdoba, Santiago ; Grupo Español de Investigación Cooperativa en DMAEartículo
24closedAccessrestringido.pdf.jpgJan-2009Lack of association between polymorphisms in C4b-binding protein and atypical Haemolytic Uraemic Syndrome in the Spanish population (C4BPA and aHUS)Martínez-Barricarte, Rubén ; Goicoechea de Jorge, Elena ; Montes, Tamara ; Layana, Alfredo García; Rodríguez de Córdoba, Santiago artículo
25closedAccessrestringido.pdf.jpgJul-2008Mutations in proteins of the Alternative Pathway of Complement and the Pathogenesis of Atypical Hemolytic Uremic SyndromeAbarrategui-Garrido, Cynthia; Melgosa, Marta; Peña-Carrión, Antonia; Goicoechea de Jorge, Elena ; Rodríguez de Córdoba, Santiago ; López-Trascasa, Margarita; Sánchez-Corral, Pilar artículo
26openAccess2008_Martinez-Barricarte et al_JASN.pdf.jpgMar-2008The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndromeMartínez-Barricarte, Rubén ; Pianetti, Gaia; Gautard, Ruxandra; Misselwitz, Joachim; Strain, Lisa; Fremeaux-Bacchi, Veronique; Skerka, Christine; Zipfel, Peter F.; Goodship, Timothy H.J.; Noris, Marina; Remuzzi, Giuseppe; Rodríguez de Córdoba, Santiago artículo
27closedAccessaccesoRestringido.pdf.jpg1-Jul-2011Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice.Vernia, Santiago ; Heredia, Miguel ; Criado-García, Olga ; Rodríguez de Córdoba, Santiago ; Sanz, Pascual  artículo
28closedAccessJan-2008Translational mini-review series on complement factor H: genetics and disease associations of human complement factor HRodríguez de Córdoba, Santiago ; Goicoechea de Jorge, Elena artículo
29openAccessglycogen_synthesis_Solaz.pdf.jpg1-Mar-2008Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathwaySolaz-Fuster, Maria Carmen ; Gimeno-Alcañiz, José Vicente; Ros, Susana; Fernández-Sánchez, Maria Elena; García-Fojeda, Belén; Criado-García, Olga ; Vilchez, David; Domínguez, Jorge; Ros, Susana; García-Rocha, Mar; Sánchez-Piris, Maribel; Aguado, Carmen; Knecht, Erwin; Serratosa, José María; Sanz, Pascual  ; Rodríguez de Córdoba, Santiago artículo
30openAccesslafora_disease_Roma.pdf.jpg1-Nov-2011Laforin, a dual specificity protein phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinaseRomá-Mateo, Carlos ; Solaz-Fuster, Maria Carmen ; Gimeno-Alcañiz, José Vicente; Donderis, Jorge ; Marina, Alberto  ; Criado-García, Olga ; Rodríguez de Córdoba, Santiago ; Sanz, Pascual  artículo
31closedAccessrestringido.pdf.jpgMay-2008Genetic deficiency of complement factor H in a patient with age-related macular degeneration and membranoproliferative glomerulonephritisMontes, Tamara ; Goicoechea de Jorge, Elena ; Ramos, Rosa; Gomá, Montserrat; Pujol, Octavi; Sánchez-Corral, Pilar ; Rodríguez de Córdoba, Santiago artículo
32openAccessPLoS ONE 004-e05907.pdf.jpg16-Jun-2009Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforinVernia, Santiago ; Rubio, Teresa ; Heredia, Miguel ; Rodríguez de Córdoba, Santiago ; Sanz, Pascual  artículo
33openAccess2009_Montes et al_PNAS.pdf.jpg2-Mar-2009Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor BMontes, Tamara ; Tortajada, Agustín ; Morgan, B. Paul; Rodríguez de Córdoba, Santiago ; Harris, Claire L.artículo
34closedAccess5-Nov-2009Characterization of complement factor H–related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndromeAbarrategui-Garrido, Cynthia; Martínez-Barricarte, Rubén ; López-Trascasa, Margarita; Rodríguez de Córdoba, Santiago ; Sánchez-Corral, Pilar artículo
35closedAccess10-Jun-2010C4BPB/C4BPA is a new susceptibility locus for venous thrombosis with unknown protein S–independent mechanism: results from genome-wide association and gene expression analyses followed by case-control studiesBuil, Alfonso; Trégouët, David-Alexandre; Souto, Juan Carlos; Saut, Noémie; Germain, Marine; Rotival, Maxime; Tiret, Laurence; Cambien, François; Lathrop, Mark; Zeller, Tanja; Alessi, Marie-Christine; Rodríguez de Córdoba, Santiago ; Münzel, Thomas; Wild, Philipp; Fontcuberta, Jordi; Gagnon, France; Emmerich, Joseph; Almasy, Laura; Blankenberg, Stefan; Soria, José-Manuel; Morange, Pierre-Emmanuelartículo
36openAccess2009_Torreira et al_PNAS.pdf.jpg9-Jan-20093D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertaseTorreira, Eva ; Tortajada, Agustín ; Montes, Tamara ; Rodríguez de Córdoba, Santiago ; Llorca, Óscar artículo
37openAccess2011_Rodriguez de Cordoba et al_Biochim Biophys_completo.pdf.jpgJan-2011Lessons from functional and structural analyses of disease-associated genetic variants in the complement alternative pathwayRodríguez de Córdoba, Santiago ; Harris, Claire L.; Morgan, B. Paul; Llorca, Óscar artículo
38closedAccessaccesoRestringido.pdf.jpg1998Mutation and polymorphism analysis of the human homogentisate 1,2- dioxygenase gene in alkaptonuria patientsBeltrán-Valero de Bernabé, Daniel; Granadino, Begoña  ; Chiarelli, IIaria; Porfirio, Bernardino; Mayatepek, Ertan; Aquaron, Robert; Moore, Melanie M.; Festen, J. J. M.; Sanmartí, Raimon; Peñalva, Miguel Ángel ; Rodríguez de Córdoba, Santiago artículo
39closedAccessaccesoRestringido.pdf.jpg1-Nov-2012Sensitive and specific assays for C3 nephritic factors permit dissection of mechanisms underlying complement dysregulationPaixao-Cavalcante, Danielle; López-Trascasa, Margarita; Skattum, Lillemor; Giclas, Patricia C.; Goodship, Timothy H.J.; Rodríguez de Córdoba, Santiago ; Truedsson, Lennart; Morgan, B. Paul; Harris, Claire L.artículo
40closedAccessaccesoRestringido.pdf.jpgMar-2007The interactive Factor H - aHUS mutation database and website: Update and integration of MCP and FI mutations with structural modelsSaunders, Rebecca E.; Goicoechea de Jorge, Elena ; Rodríguez de Córdoba, Santiago ; Perkins, Stephenartículo
41closedAccessaccesoRestringido.pdf.jpgMay-2006Ochronotic rheumatism in Algeria: clinical, radiological, biological and molecular studies--a case study of 14 patients in 11 familiesLadjouze-Rezig, Aicha; Rodríguez de Córdoba, Santiago ; Aquaron, Robertartículo
42closedAccessaccesoRestringido.pdf.jpg1999A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)Serratosa, José María; Gómez-Garre, Pilar; Gallardo, M. Esther ; Anta, Berta; Beltrán-Valero de Bernabé, Daniel; Lindhout, Dick; Augustijn, Paul B.; Tassinari, Carlo Alberto; Michelucci, Roberto; Malafosse, Alain; Topcu, Meral; Grid, Djamel; Dravet, Charlotte; Berkovic, Samuel F.; Rodríguez de Córdoba, Santiago artículo
43closedAccessaccesoRestringido.pdf.jpg2000Structural and functional analysis of mutations in alkaptonuriaRodríguez, José M.; Timm, David E.; Titus, Gregory P.; Beltrán-Valero de Bernabé, Daniel; Criado-García, Olga ; Mueller, Heather A.; Rodríguez de Córdoba, Santiago ; Peñalva, Miguel Ángel artículo
44closedAccessrestringido.pdf.jpgJul-2000Crystal structure of human homogentisate dioxygenaseTitus, Gregory P.; Mueller, Heather A.; Burgner, John; Rodríguez de Córdoba, Santiago ; Peñalva, Miguel Ángel ; Timm, David E.artículo
45closedAccessFeb-2001The molecular basis of 3-methylcrotonylglycinuria, a disorder of the leucine catabolismGallardo, M. Esther ; Desviat, Lourdes R. ; Rodríguez, José M.; Esparza-Gordillo, Jorge; Pérez-Cerdá, Celia; Pérez, Belén ; Rodríguez-Pombo, Pilar ; Navarrete, Olga; Sanz, Raúl; Morton, D.Holmes; Criado-García, Olga ; Gibson, K.Michael; Le, Thuy P.; Ribes, Antonia; Rodríguez de Córdoba, Santiago ; Ugarte, Magdalena ; Peñalva, Miguel Ángel artículo
46closedAccessaccesoRestringido.pdf.jpg2003Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulationFernández-Sánchez, Maria Elena; Criado-García, Olga ; Heath, Karen E.; García-Fojeda, Belén; Medraño-Fernández, Iria; Gómez-Garre, Pilar; Sanz, Pascual  ; Serratosa, José María; Rodríguez de Córdoba, Santiago artículo
47closedAccessaccesoRestringido.pdf.jpg1999Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomaliesGallardo, M. Esther ; Lopez-Rios, Javier; Fernaud-Espinosa, Isabel ; Granadino, Begoña  ; Sanz, Raúl; Ramos, Carmen; Ayuso, Carmen; Seller, Mary J.; Brunner, Han G.; Bovolenta, Paola ; Rodríguez de Córdoba, Santiago artículo
48closedAccessrestringido.pdf.jpg1-Dec-2004Interaction between Complement Regulators and Streptococcus pyogenes: Binding of C4b-Binding Protein and Factor H/Factor H-Like Protein 1 to M18 Strains Involves Two Different Cell Surface Molecules1Pérez-Caballero, David; Garcia, Isabel; Cortés, Guadalupe; Wessels, Michael R.; Albertí, Sebastián; Rodríguez de Córdoba, Santiago artículo
49closedAccessaccesoRestringido.pdf.jpg2005Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32Esparza-Gordillo, Jorge; Goicoechea de Jorge, Elena ; Buil, Alfonso; Carreras, Luis; López-Trascasa, Margarita; Sánchez-Corral, Pilar ; Rodríguez de Córdoba, Santiago artículo
50closedAccessaccesoRestringido.pdf.jpg2004The human complement factor H: Functional roles, genetic variations and disease associationsRodríguez de Córdoba, Santiago ; Esparza-Gordillo, Jorge; Goicoechea de Jorge, Elena ; López-Trascasa, Margarita; Sánchez-Corral, Pilar artículo
Results 1-50 of 128 (Search time: 2.687 seconds).