A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function.
Roumenina, Lubka T; Frimat, Marie; Miller, Elizabeth C; Provot, Francois; Dragon-Durey, Marie-Agnes; Bordereau, Pauline; Bigot, Sylvain; Hue, Christophe; Satchell, Simon C; Mathieson, Peter W; Mousson, Christiane; Noel, Christian; Sautes-Fridman, Catherine; Halbwachs-Mecarelli, Lise; Atkinson, John P; Lionet, Arnaud; Fremeaux-Bacchi, Veronique.
; 119(18): 4182-91, 2012 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-22246034
Lessons from functional and structural analyses of disease-associated genetic variants in the complement alternative pathway.
Complement activation by heme as a secondary hit for atypical hemolytic uremic syndrome.
Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding.
The development of atypical hemolytic uremic syndrome depends on complement C5.
Complement Component 3 Adapts the Cerebrospinal Fluid for Leptomeningeal Metastasis.
Hemolytic uremic syndrome due to homozygous factor H deficiency.
Complement and the kidney in the setting of Shiga-toxin hemolytic uremic syndrome, organ transplantation, and C3 glomerulonephritis.
Mutations in complement C3 from aHUS patients.
Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.
Overall neutralization of complement factor H by autoantibodies in the acute phase of the autoimmune form of atypical hemolytic uremic syndrome.