Author pages are created from data sourced from our academic publisher partnerships and public sources.
Share This Author
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)
There continues to be confusion regarding acceptable methods to measure autophagy, especially in multicellular eukaryotes, so it is important to update guidelines for monitoring autophagic activity in different organisms.
Gain-of-function mutations in complement factor B are associated with atypical hemolytic uremic syndrome
- E. G. de Jorge, C. Harris, S. D. de Córdoba
- Biology, MedicineProceedings of the National Academy of Sciences
- 2 January 2007
Functional analyses demonstrated that F286L and K323E aHUS-associated BF mutations are gain-of-function mutations that result in enhanced formation of the C3bBb convertase or increased resistance to inactivation by complement regulators.
Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome.
- C. Abarrategui-Garrido, R. Martinez-Barricarte, M. López-Trascasa, S. D. de Córdoba, P. Sánchez-Corral
- Biology, MedicineBlood
- 5 November 2009
The factor H-related protein family (CFHR) is a group of minor plasma proteins genetically and structurally related to complement factor H (fH). Notably, deficiency of CFHR1/CFHR3 associates with…
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
- J. Serratosa, P. Gómez-Garre, S. D. de Córdoba
- Biology, PsychologyHuman molecular genetics
- 1 February 1999
The findings suggest that Lafora disease results from the mutational inactivation of a PTPase activity that may be important in the control of glycogen metabolism.
Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains
- M. Pickering, E. G. de Jorge, M. Botto
- Biology, MedicineThe Journal of experimental medicine
- 11 June 2007
These animals represent the first model of aHUS and provide in vivo evidence that effective plasma C3 regulation and the defective control of complement activation on renal endothelium are the critical events in the molecular pathogenesis of FH-associated aH US.
Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndrome.
- P. Sánchez-Corral, D. Pérez-Caballero, S. D. de Córdoba
- Biology, MedicineAmerican journal of human genetics
- 1 December 2002
The hypothesis that patients with aHUS carry a specific dysfunction in the protection of cellular surfaces from complement activation is supported, offering new possibilities to improve diagnosis and develop appropriate therapies.
The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity.
- A. Tortajada, T. Montes, R. Martinez-Barricarte, B. Morgan, C. Harris, S. D. de Córdoba
- BiologyHuman molecular genetics
- 15 September 2009
A demonstration of the functional consequences of the fH-Ile(62) polymorphism provides relevant insights into the complement regulatory activities of fH that will be useful in disease prediction and future development of effective therapeutics for disorders caused by complement dysregulation.
New approaches to the treatment of dense deposit disease.
- Richard J. H. Smith, J. Alexander, P. Zipfel
- MedicineJournal of the American Society of Nephrology…
- 1 September 2007
A diagnostic and treatment algorithm for patients with dense deposit disease is presented on the basis of pathophysiology and novel therapies should be integrated into existing protocols for DDD and evaluated using an open-label Bayesian study design.
Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritis