Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome.

@article{Roumenina2009HyperfunctionalCC,
  title={Hyperfunctional C3 convertase leads to complement deposition on endothelial cells and contributes to atypical hemolytic uremic syndrome.},
  author={Lubka T. Roumenina and Mathieu Jablonski and Christophe Hue and Jacques Blouin and Jordan D. Dimitrov and Marie-Agn{\`e}s Dragon-Durey and Mathieu Cayla and Wolf Herman Fridman and Marie Alice Macher and David Ribes and Luc Moulonguet and Lionel Rostaing and Simon C. Satchell and Peter W. Mathieson and Catherine Saut{\`e}s-Fridman and Chantal Loirat and Catherine H. R{\'e}gnier and Lise Halbwachs‐Mecarelli and V{\'e}ronique Fr{\'e}meaux-Bacchi},
  journal={Blood},
  year={2009},
  volume={114 13},
  pages={
          2837-45
        }
}
Complement is a major innate immune defense against pathogens, tightly regulated to prevent host tissue damage. Atypical hemolytic uremic syndrome (aHUS) is characterized by endothelial damage leading to renal failure and is highly associated with abnormal alternative pathway regulation. We characterized the functional consequences of 2 aHUS-associated mutations (D(254)G and K(325)N) in factor B, a key participant in the alternative C3 convertase. Mutant proteins formed high-affinity C3-binding… 

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