The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome. Issue 2 (August 2015) - Martínez-Barricarte, Rubén
Highlights Mutations in C3 have been associated with aHUS and other glomerulopathies. aHUS-associated C3 mutants R592W, R161W, and I1157T impair regulation by MCP, but not by FH. EM analysis provides the structural basis for the functional impairment of the R161W and I1157T mutants. Data supports aHUS-associated C3 mutations selectively affect complement regulation on surfaces.