Binding of complement regulatory proteins to Group A StreptococcusCLIVER, Maria A; ROJO, José M; RODRIGUEZ DE CORDOBA, Santiago et al.Vaccine. Supplement. 2008, Vol 26, Num 8, issn 1359-5938, I75-I78Article

The disease-protective complement factor H allotypic variant IIe62 shows increased binding affinity for C3b and enhanced cofactor activityTORTAJADA, Agustín; MONTES, Tamara; MARTINEZ-BARRICARTE, Rubén et al.Human molecular genetics (Print). 2009, Vol 18, Num 18, pp 3452-3461, issn 0964-6906, 10 p.Article

Characterization of complement factor H―related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndromeABARRATEGUI-GARRIDO, Cynthia; MARTINEZ-BARRICARTE, Rubén; LOPEZ-TRASCASA, Margarita et al.Blood. 2009, Vol 114, Num 19, pp 4261-4271, issn 0006-4971, 11 p.Article

Structural and functional characterization of factor H mutations associated with atypical hemolytic uremic syndromeSANCHEZ-CORRAL, Pilar; PEREZ-CABALLERO, David; HUARTE, Olatz et al.American journal of human genetics. 2002, Vol 71, Num 6, pp 1285-1295, issn 0002-9297, 11 p.Article

High frequency of alkaptonuria in Slovakia: Evidence for the appearance of multiple mutations in HGO involving different mutational hot spotsZATKOVA, Andrea; BELTRAN VALERO DE BERNABE, Daniel; POLAKOVA, Helena et al.American journal of human genetics. 2000, Vol 67, Num 5, pp 1333-1339, issn 0002-9297Article

Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndromePEREZ-CABALLERO, David; GONZALEZ-RUBIO, Carolina; GALLARDO, M. Esther et al.American journal of human genetics. 2001, Vol 68, Num 2, pp 478-484, issn 0002-9297Article

Mutations in Proteins of the Alternative Pathway of Complement and the Pathogenesis of Atypical Hemolytic Uremic SyndromeABARRATEGUI-GARRIDO, Cynthia; MELGOSA, Marta; PENA-CARRION, Antonia et al.American journal of kidney diseases. 2008, Vol 52, Num 1, pp 171-180, issn 0272-6386, 10 p.Article

Laforin, the most common protein mutated in Lafora disease, regulates autophagyAGUADO, Carmen; SARKAR, Sovan; KOROLCHUK, Viktor I et al.Human molecular genetics (Print). 2010, Vol 19, Num 14, pp 2867-2876, issn 0964-6906, 10 p.Article

Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variantsMORENO-LOSHUERTOS, Raquel; ACIN-PEREZ, Rebeca; FERNANDEZ-SILVA, Patricio et al.Nature genetics. 2006, Vol 38, Num 11, pp 1261-1268, issn 1061-4036, 8 p.Article

Identification of a mutation in complement factor H-related protein 5 in patients of Cypriot origin with glomerulonephritisGALE, Daniel P; GOICOECHEA DE JORGE, Elena; VOSKARIDES, Konstantinos et al.Lancet (British edition). 2010, Vol 376, Num 9743, pp 794-801, issn 0140-6736, 8 p.Article

Measurement 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, Agustin et al.Investigative ophthalmology & visual science. 2008, Vol 49, Num 5, pp 1983-1990, issn 0146-0404, 8 p.Article

Predisposition 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 et al.Human molecular genetics (Print). 2005, Vol 14, Num 5, pp 703-712, issn 0964-6906, 10 p.Article

Complement Factor H Is Expressed in Adipose Tissue in Association With Insulin ResistanceMORENO-NAVARRETE, José Maria; MARTINEZ-BARRICARTE, Rubén; FERNANDEZ-REAL, José Manuel et al.Diabetes (New York, NY). 2010, Vol 59, Num 1, pp 200-209, issn 0012-1797, 10 p.Article

Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathwaySOLAZ-FUSTER, Maria Carmen; GIMENO-ALCANIZ, José Vicente; AGUADO, Carmen et al.Human molecular genetics (Print). 2008, Vol 17, Num 5, pp 667-678, issn 0964-6906, 12 p.Article

New approaches to the treatment of dense deposit diseaseSMITH, Richard J. H; ALEXANDER, Jessy; LAMBRIS, John D et al.Journal of the American Society of Nephrology. 2007, Vol 18, Num 9, pp 2447-2456, issn 1046-6673, 10 p.Article

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagyCRIADO, Olga; AGUADO, Carmen; JUANA-LOPEZ, Lucia et al.Human molecular genetics (Print). 2012, Vol 21, Num 7, pp 1521-1533, issn 0964-6906, 13 p.Article

Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in miceVERNIA, Santiago; HEREDIA, Miguel; SANZ, Pascual et al.Human molecular genetics (Print). 2011, Vol 20, Num 13, pp 2571-2584, issn 0964-6906, 14 p.Article

C4BPB/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; TREGOUËT, David-Alexandre; ALESSI, Marie-Christine et al.Blood. 2010, Vol 115, Num 23, pp 4644-4650, issn 0006-4971, 7 p.Article

Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulationFERNANDEZ-SANCHEZ, Maria Elena; CRIADO-GARCIA, Olga; HEATH, Karen E et al.Human molecular genetics (Print). 2003, Vol 12, Num 23, pp 3161-3171, issn 0964-6906, 11 p.Article

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolismGALLARDO, M. Esther; DESVIAT, Lourdes R; GIBSON, K. Michael et al.American journal of human genetics. 2001, Vol 68, Num 2, pp 334-346, issn 0002-9297Article