Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
Goicoechea de Jorge, Elena, Harris, Claire L, Esparza-Gordillo, Jorge, Carreras, Luis, Aller Arranz, Elena, Abarrategui Garrido, Cynthia, López-Trascasa, Margarita, Sánchez-Corral, Pilar, Morgan, B. Paul, Rodríguez de Córdoba, Santiago
Published in Proceedings of the National Academy of Sciences - PNAS (02.01.2007)
Published in Proceedings of the National Academy of Sciences - PNAS (02.01.2007)
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The crystal structure of iC3b-CR3 αI reveals a modular recognition of the main opsonin iC3b by the CR3 integrin receptor
Fernández, Francisco J., Santos-López, Jorge, Martínez-Barricarte, Rubén, Querol-García, Javier, Martín-Merinero, Héctor, Navas-Yuste, Sergio, Savko, Martin, Shepard, William E., Rodríguez de Córdoba, Santiago, Vega, M. Cristina
Published in Nature communications (12.04.2022)
Published in Nature communications (12.04.2022)
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Human C3 mutation reveals a mechanism of dense deposit disease pathogenesis and provides insights into complement activation and regulation
Martínez-Barricarte, Rubén, Heurich, Meike, Valdes-Cañedo, Francisco, Vazquez-Martul, Eduardo, Torreira, Eva, Montes, Tamara, Tortajada, Agustín, Pinto, Sheila, Lopez-Trascasa, Margarita, Morgan, B Paul, Llorca, Oscar, Harris, Claire L, Rodríguez de Córdoba, Santiago
Published in The Journal of clinical investigation (01.10.2010)
Published in The Journal of clinical investigation (01.10.2010)
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Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk
Heurich, Meike, MartÃnez-Barricarte, Ruben, Francis, Nigel J, Roberts, Dawn L, RodrÃguez de Córdoba, Santiago, Morgan, B. Paul, Harris, Claire L
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (24.05.2011)
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C3 glomerulopathy-associated CFHR1 mutation alters FHR oligomerization and complement regulation
Tortajada, Agustín, Yébenes, Hugo, Abarrategui-Garrido, Cynthia, Anter, Jaouad, García-Fernández, Jesús M, Martínez-Barricarte, Rubén, Alba-Domínguez, María, Malik, Talat H, Bedoya, Rafael, Cabrera Pérez, Rocío, López Trascasa, Margarita, Pickering, Matthew C, Harris, Claire L, Sánchez-Corral, Pilar, Llorca, Oscar, Rodríguez de Córdoba, Santiago
Published in The Journal of clinical investigation (01.06.2013)
Published in The Journal of clinical investigation (01.06.2013)
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Laforin, the most common protein mutated in Lafora disease, regulates autophagy
Aguado, Carmen, Sarkar, Sovan, Korolchuk, Viktor I., Criado, Olga, Vernia, Santiago, Boya, Patricia, Sanz, Pascual, de Córdoba, Santiago Rodríguez, Knecht, Erwin, Rubinsztein, David C.
Published in Human molecular genetics (15.07.2010)
Published in Human molecular genetics (15.07.2010)
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Unique structure of iC3b resolved at a resolution of 24 Ã by 3D-electron microscopy
Alcorlo, Martin, MartÃnez-Barricarte, Ruben, Fernández, Francisco J, RodrÃguez-Gallego, César, Round, Adam, Vega, M.Cristina, Harris, Claire L, de Cordoba, Santiago RodrÃguez, Llorca, Oscar
Published in Proceedings of the National Academy of Sciences - PNAS (09.08.2011)
Published in Proceedings of the National Academy of Sciences - PNAS (09.08.2011)
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Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains
Pickering, Matthew C, de Jorge, Elena Goicoechea, Martinez-Barricarte, Rubén, Recalde, Sergio, Garcia-Layana, Alfredo, Rose, Kirsten L, Moss, Jill, Walport, Mark J, Cook, H Terence, de Córdoba, Santiago Rodriguez, Botto, Marina
Published in The Journal of experimental medicine (11.06.2007)
Published in The Journal of experimental medicine (11.06.2007)
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Pleiotropic effects of cell wall amidase LytA on Streptococcus pneumoniae sensitivity to the host immune response
Ramos-Sevillano, Elisa, Urzainqui, Ana, Campuzano, Susana, Moscoso, Miriam, González-Camacho, Fernando, Domenech, Mirian, Rodríguez de Córdoba, Santiago, Sánchez-Madrid, Francisco, Brown, Jeremy S, García, Ernesto, Yuste, Jose
Published in Infection and immunity (01.02.2015)
Published in Infection and immunity (01.02.2015)
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Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease
Nitschke, Felix, Sullivan, Mitchell A, Wang, Peixiang, Zhao, Xiaochu, Chown, Erin E, Perri, Ami M, Israelian, Lori, Juana‐López, Lucia, Bovolenta, Paola, Rodríguez de Córdoba, Santiago, Steup, Martin, Minassian, Berge A
Published in EMBO molecular medicine (01.07.2017)
Published in EMBO molecular medicine (01.07.2017)
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Complement Factor D (adipsin) Levels Are Elevated in Acquired Partial Lipodystrophy (Barraquer–Simons syndrome)
Corvillo, Fernando, González-Sánchez, Laura, López-Lera, Alberto, Arjona, Emilia, Ceccarini, Giovanni, Santini, Ferruccio, Araújo-Vilar, David, Brown, Rebecca J, Villarroya, Joan, Villarroya, Francesc, Rodríguez de Córdoba, Santiago, Caballero, Teresa, Nozal, Pilar, López-Trascasa, Margarita
Published in International journal of molecular sciences (21.06.2021)
Published in International journal of molecular sciences (21.06.2021)
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Atypical hemolytic uremic syndrome-associated variants and autoantibodies impair binding of factor h and factor h-related protein 1 to pentraxin 3
Kopp, Anne, Strobel, Stefanie, Tortajada, Agustín, Rodríguez de Córdoba, Santiago, Sánchez-Corral, Pilar, Prohászka, Zoltán, López-Trascasa, Margarita, Józsi, Mihály
Published in The Journal of immunology (1950) (15.08.2012)
Published in The Journal of immunology (1950) (15.08.2012)
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Characteristics, management and outcomes of atypical haemolytic uraemic syndrome in kidney transplant patients: a retrospective national study
Portoles, José, Huerta, Ana, Arjona, Emilia, Gavela, Eva, Agüera, Marisa, Jiménez, Carlos, Cavero, Teresa, Marrero, Domingo, Rodríguez de Córdoba, Santiago, Diekmann, Fritz
Published in Clinical Kidney Journal (01.04.2021)
Published in Clinical Kidney Journal (01.04.2021)
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Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
Esparza-Gordillo, Jorge, Jorge, Elena Goicoechea de, Buil, Alfonso, Berges, Luis Carreras, López-Trascasa, Margarita, Sánchez-Corral, Pilar, Córdoba, Santiago Rodríguez de
Published in Human molecular genetics (01.03.2005)
Published in Human molecular genetics (01.03.2005)
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Eculizumab Modifies Outcomes in Adults with Atypical Hemolytic Uremic Syndrome with Acute Kidney Injury
Cao, Mercedes, Leite, Bruna N, Ferreiro, Tamara, Calvo, María, Fernández, Constantino, Alonso, Ángel, Rodriguez, Alejandro, Salvador, Pilar, Seijo, Rocío, Pita, Salvador, Arjona, Emilia, Rodríguez de Córdoba, Santiago, Valdés Cañedo, Francisco
Published in American journal of nephrology (01.01.2018)
Published in American journal of nephrology (01.01.2018)
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Functional basis of protection against age-related macular degeneration conferred by a common polymorphism in complement factor B
Montes, Tamara, Tortajada, Agustín, Morgan, B. Paul, Rodríguez de Córdoba, Santiago, Harris, Claire L
Published in Proceedings of the National Academy of Sciences - PNAS (17.03.2009)
Published in Proceedings of the National Academy of Sciences - PNAS (17.03.2009)
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The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity
Tortajada, Agustín, Montes, Tamara, Martı́nez-Barricarte, Rubén, Morgan, B. Paul, Harris, Claire L., de Córdoba, Santiago Rodríguez
Published in Human molecular genetics (15.09.2009)
Published in Human molecular genetics (15.09.2009)
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Journal Article
High Complement Factor H-Related (FHR)-3 Levels Are Associated With the Atypical Hemolytic-Uremic Syndrome-Risk Allele CFHR3B
Pouw, Richard B, Gómez Delgado, Irene, López Lera, Alberto, Rodríguez de Córdoba, Santiago, Wouters, Diana, Kuijpers, Taco W, Sánchez-Corral, Pilar
Published in Frontiers in immunology (24.04.2018)
Published in Frontiers in immunology (24.04.2018)
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Complement Factor H Is Expressed in Adipose Tissue in Association With Insulin Resistance
MORENO-NAVARRETE, José Maria, MARTINEZ-BARRICARTE, Rubén, FERNANDEZ-REAL, José Manuel, CATALAN, Victoria, SABATER, Monica, GOMEZ-AMBROSI, Javier, ORTEGA, Francisco José, RICART, Wifredo, BLÜHER, Mathias, FRÜHBECK, Gema, RODRIGUEZ DE CORDOBA, Santiago
Published in Diabetes (New York, N.Y.) (01.01.2010)
Published in Diabetes (New York, N.Y.) (01.01.2010)
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