S. D. de Córdoba

发表

Laforin and Malin Deletions in Mice Produce Similar Neurologic Impairments

J. Serratosa, R. Guerrero, Marina P Sánchez, 2012, Journal of neuropathology and experimental neurology.

Guidelines for the use and interpretation of assays formonitoring autophagy (3rd edition)

Sangeeta Khare, Xin Qi, Ying Wang, 2016 .

Familial syndromic esophageal atresia maps to 2p23-p24.

R. Hennekam, J. Tolmie, H. Brunner, 2000, American journal of human genetics.

Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin

T. Rubio, M. Heredia, P. Sanz, 2009, PloS one.

AMP-activated Protein Kinase Phosphorylates R5/PTG, the Glycogen Targeting Subunit of the R5/PTG-Protein Phosphatase 1 Holoenzyme, and Accelerates Its Down-regulation by the Laforin-Malin Complex*

M. Foretz, T. Rubio, P. Sanz, 2009, Journal of Biological Chemistry.

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

D. Rubinsztein, S. Sarkar, V. Korolchuk, 2010, Human molecular genetics.

How novel structures inform understanding of complement function

O. Llorca, S. D. de Córdoba, H. Yébenes, 2017, Seminars in Immunopathology.

Effectiveness of mycophenolate mofetil in C3 glomerulonephritis.

T. Cavero, G. Ariceta, J. Campistol, 2015, Kidney international.

DelCFHR3‐1 influences graft survival in transplant patients with IgA nephropathy via complement‐mediated cellular senescence

M. Accetturo, L. Gesualdo, G. Stallone, 2020, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

New approaches to the treatment of dense deposit disease.

H. Lutz, D. Salant, W. Kimberling, 2007, Journal of the American Society of Nephrology : JASN.

The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.

G. Remuzzi, P. Zipfel, C. Skerka, 2008, Journal of the American Society of Nephrology : JASN.

3D structure of the C3bB complex provides insights into the activation and regulation of the complement alternative pathway convertase

O. Llorca, S. D. de Córdoba, A. Tortajada, 2009, Proceedings of the National Academy of Sciences.

Gain-of-function mutation in complement C2 protein identified in patient with aHUS.

S. Ołdziej, E. Volokhina, A. Blom, 2020, The Journal of allergy and clinical immunology.

Interaction of Shiga toxin 2 with complement regulators of the factor H protein family.

P. Zipfel, C. Skerka, R. Würzner, 2014, Molecular immunology.

Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome

B. Paul Morgan, Pilar Sánchez-Corral, Claire L. Harris, 2007, Proceedings of the National Academy of Sciences.

Is the atypical hemolytic uremic syndrome risk polymorphism in Membrane Cofactor Protein MCPggaac relevant in kidney transplantation? A case report

A. Sánchez-Moreno, S. D. de Córdoba, R. Bedoya, 2020, Pediatric transplantation.

Successful Renal Transplantation in a Patient with Atypical Hemolytic Uremic Syndrome Carrying Mutations in Both Factor I and MCP

M. López-Trascasa, P. Sánchez-Corral, J. Torras, 2009, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Successful Liver‐Kidney Transplantation in Two Children With aHUS Caused by a Mutation in Complement Factor H

G. Remuzzi, A. Koivusalo, S. Meri, 2007, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Anti-C5 as prophylactic therapy in atypical hemolytic uremic syndrome in living-related kidney transplantation.

F. Diekmann, F. Oppenheimer, J. Campistol, 2013, Transplantation.

Characteristics, management and outcomes of atypical haemolytic uraemic syndrome in kidney transplant patients: a retrospective national study

T. Cavero, S. Rodríguez de Córdoba, F. Diekmann, 2020, Clinical kidney journal.

Complement dysregulation and disease: from genes and proteins to diagnostics and drugs.

B. Morgan, S. R. Córdoba, C. Harris, 2012, Immunobiology.

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).

R. Michelucci, S. Berkovic, J. Serratosa, 1999, Human molecular genetics.

Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains

M. Walport, S. Rodríguez de Córdoba, E. Goicoechea de Jorge, 2007, The Journal of experimental medicine.

Common and rare genetic variants of complement components in human disease

M. López-Trascasa, R. Bayarri-Olmos, S. D. de Córdoba, 2018, Molecular immunology.

Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.

M. López-Trascasa, P. Sánchez-Corral, S. D. de Córdoba, 2009, Blood.

A high-resolution map of the regulator of the complement activation gene cluster on 1q32 that integrates new genes and markers

D. Heine-Suñer, J. Benítez, M. Robledo, 1997, Immunogenetics.

C3 glomerulopathy — understanding a rare complement-driven renal disease

G. Remuzzi, V. D’Agati, A. Blom, 2019, Nature Reviews Nephrology.

m.6267G>A: a recurrent mutation in the human mitochondrial DNA that reduces cytochrome c oxidase activity and is associated with tumors

J. Enríquez, Javier Silva, F. Bonilla, 2006, Human mutation.

The role of complement in C3 glomerulopathy.

P. Zipfel, C. Skerka, M. Noris, 2015, Molecular immunology.

Identifi Cation of a Mutation in Complement Factor H-related Protein 5 in Patients of Cypriot Origin with Glomerulonephritis

Frcp, K. Kyriacou, A. Hadjisavvas, 2022 .

Insights into hemolytic uremic syndrome: segregation of three independent predisposition factors in a large, multiple affected pedigree.

J. Esparza-Gordillo, M. López-Trascasa, P. Sánchez-Corral, 2006, Molecular immunology.

Genetic polymorphism of human C4-binding protein.

V. Nussenzweig, A. Ferreira, P. Rubinstein, 1983, Journal of immunology.

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.

D. Pérez-Caballero, M. López-Trascasa, P. Sánchez-Corral, 2002, American journal of human genetics.

Mapping of the human VLA‐α4 gene to chromosome 2q31‐q32

F. Sánchez‐Madrid, Á. Corbí, Fernando Pardo-Manuel de Villena, 1992 .

Mutational analysis of the HGO gene in Finnish alkaptonuria patients

A. Alho, P. Peterson, Y. Konttinen, 1999, Journal of medical genetics.

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

H. Kayserili, B. Wollnik, K. Çefle, 2003, Journal of Inherited Metabolic Disease.

High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.

V. Ferák, S. R. Córdoba, S. D. de Córdoba, 2000, American journal of human genetics.

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients.

I. Chiarelli, B. Porfirio, E. Mayatepek, 1998, American journal of human genetics.

Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene

I. Chiarelli, B. Porfirio, E. Zammarchi, 2000, Journal of medical genetics.

Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance.

M. López-Trascasa, P. Sánchez-Corral, S. D. de Córdoba, 2012, Kidney international.

Sensitive and specific assays for C3 nephritic factors clarify mechanisms underlying complement dysregulation

L. Truedsson, M. López-Trascasa, B. Morgan, 2012, Kidney international.

Interaction 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 Molecules1

D. Pérez-Caballero, M. Wessels, S. D. de Córdoba, 2004, The Journal of Immunology.

Case report: lupus nephritis with autoantibodies to complement alternative pathway proteins and C3 gene mutation

M. López-Trascasa, S. D. de Córdoba, J. Martínez-Ara, 2015, BMC Nephrology.

Translational Mini‐Review Series on Complement Factor H: Genetics and disease associations of human complement factor H

S. D. de Córdoba, E. G. de Jorge, S. R. de Córdoba, 2007, Clinical and experimental immunology.

The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity.

B. Morgan, C. Harris, S. D. de Córdoba, 2009, Human molecular genetics.

Complement Factor H Binds to Denatured Rather than to Native Pentameric C-reactive Protein*

G. Rivas, M. Pepys, B. Morgan, 2008, Journal of Biological Chemistry.

Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome.

B. Morgan, C. Harris, S. D. de Córdoba, 2010, Kidney international.

Expression of the peptide C4b-binding protein β in the arthritic joint

G. Herrero-Beaumont, J. Esparza-Gordillo, R. Largo, 2006 .

Successful pharmacological intervention at different levels of the complement system in an in vitro complement fixation model for bullous pemphigoid

T. V. D. van den Bosch, S. D. de Córdoba, M. Schreurs, 2023, Experimental dermatology.

Expression of the peptide C4b-binding protein beta in the arthritic joint.

G. Herrero-Beaumont, J. Esparza-Gordillo, R. Largo, 2006, Annals of the rheumatic diseases.

Mutations in proteins of the alternative pathway of complement and the pathogenesis of atypical hemolytic uremic syndrome.

M. López-Trascasa, P. Sánchez-Corral, S. D. de Córdoba, 2008, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Genetic correlation between plasma levels of C4BP isoforms containing β chains and susceptibility to thrombosis

L. Almasy, J. Blangero, A. Buil, 2004, Journal of Medical Genetics.

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

D. Morton, J. Esparza-Gordillo, C. Pérez-Cerdá, 2001, American journal of human genetics.

Unique structure of iC3b resolved at a resolution of 24 Å by 3D-electron microscopy

Adam Round, Claire L. Harris, Francisco J. Fernández, 2011, Proceedings of the National Academy of Sciences.

Complement genetics and susceptibility to inflammatory disease. Lessons from genotype-phenotype correlations.

S. D. de Córdoba, 2016, Immunobiology.

Supplementary webappendix

Jonathan E. Dickerson, K. Kyriacou, R. Hennekam, 2013 .

Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants

J. Enríquez, P. Fernández-Silva, R. Moreno-Loshuertos, 2006, Nature Genetics.

Complement dysregulation and disease: from genes and proteins to diagnostics and drugs.

C. Harris, S. D. de Córdoba, A. Tortajada, 2012, Immunobiology.

C3 glomerulopathy — understanding a rare complement-driven renal disease

John D Lambris, G. Remuzzi, V. D’Agati, 2019, Nature Reviews Nephrology.

Lessons from functional and structural analyses of disease-associated genetic variants in the complement alternative pathway.

O. Llorca, B. Morgan, C. Harris, 2011, Biochimica et biophysica acta.