Article
Mapping interactions between complement C3 and regulators using mutations in atypical hemolytic uremic syndrome.
Blood - 9 Apr 2015
Schramm Elizabeth C, Roumenina Lubka T, Rybkine Tania, Chauvet Sophie, Vieira-Martins Paula, Hue Christophe, Maga Tara, Valoti Elisabetta, Wilson Valerie, Jokiranta Sakari, Smith Richard J H, Noris Marina, Goodship Tim, Atkinson John P, Fremeaux-Bacchi Veronique
Abstract excerpt
The pathogenesis of atypical hemolytic uremic syndrome (aHUS) is strongly linked to dysregulation of the alternative pathway of the complement system. Mutations in complement genes have been identified in about two-thirds of cases, with 5% to 15% being in C3. In this study, 23 aHUS-associated genetic changes in C3 were characterized relative to their interaction with the control proteins factor H (FH), membrane...
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