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dc.contributor.authorRecalde, Sergioes_ES
dc.contributor.authorTortajada, Agustínes_ES
dc.contributor.authorSubías, Martaes_ES
dc.contributor.authorAnter, Jauoades_ES
dc.contributor.authorPinto, Sheilaes_ES
dc.contributor.authorRodríguez de Córdoba, Santiagoes_ES
dc.date.issued2015-09-16-
dc.identifier.citationJASN Published online before print September 16, 2015. Recalde, Sergio et al.es_ES
dc.identifier.issn1046-6673-
dc.identifier.urihttp://hdl.handle.net/10261/122411-
dc.description27 p.-3 fig.-1 tab.-3 fig. compl.es_ES
dc.description.abstractThe complement factor H (FH) mutation R1210C, which was described in association with atypical hemolytic uremic syndrome (aHUS), also confers high risk of age-related macular degeneration (AMD) and associates with C3 glomerulopathy (C3G). To reveal the molecular basis of these associations and to provide insight into what determines the disease phenotype in FH-R1210C carriers, we identified FH-R1210C carriers in our aHUS, C3G, and AMD cohorts. Disease status, determined in patients and relatives, revealed an absence of AMD phenotypes in the aHUS cohort and, vice versa, a lack of renal disease in the AMD cohort. These findings were consistent with differences in the R1210C-independent overall risk for aHUS and AMD between mutation carriers developing one pathology or the other. R1210C is an unusual mutation that generates covalent complexes between FH and HSA. Using purified FH proteins and surface plasmon resonance analyses, we demonstrated that formation of these FH-HSA complexes impairs accessibility to all FH functional domains. These data suggest that R1210C is a unique C-terminal FH mutation that behaves as a partial FH deficiency, predisposing individuals to diverse pathologies with distinct underlying pathogenic mechanisms; the final disease outcome is then determined by R1210C-independent genetic risk factors.es_ES
dc.description.sponsorshipThis work was supported by The Spanish "Ministerio de Economía y Competitividad" (SAF2011-26583, PI11/00898 and RETICS RD12/0034) , The Fundación Renal Íñigo Álvarez de Toledo, the Seventh Framework Programme European Union Project EURenOmics (305608) and the Autonomous Region of Madrid S2010/BMD-2316)-
dc.language.isoenges_ES
dc.publisherLippincott Williams & Wilkinses_ES
dc.relation.isversionofPostprintes_ES
dc.rightsopenAccessen_EN
dc.subjectAMDes_ES
dc.subjectaHUSes_ES
dc.subjectC3Ges_ES
dc.subjectComplementes_ES
dc.subjectFactor Hes_ES
dc.subjectR1210C mutationes_ES
dc.subjecthemolytic uremic syndromees_ES
dc.subjectglomerular diseasees_ES
dc.titleMolecular basis of factor H R1210C association with ocular and renal diseaseses_ES
dc.typeartículoes_ES
dc.identifier.doi10.1681/ASN.2015050580-
dc.description.peerreviewedPeer reviewedes_ES
dc.relation.publisherversionhttp://dx.doi.org/ 10.1681/ASN.2015050580es_ES
dc.identifier.e-issn1533-3450-
dc.embargo.terms2016-03-16es_ES
dc.contributor.funderMinisterio de Economía y Competitividad (España)-
dc.contributor.funderComunidad de Madrid-
dc.relation.csices_ES
dc.identifier.funderhttp://dx.doi.org/10.13039/501100003329es_ES
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