Article
The molecular and structural bases for the association of complement C3 mutations with atypical hemolytic uremic syndrome.
Molecular immunology - 1 Aug 2015
Martínez-Barricarte Rubén, Heurich Meike, López-Perrote Andrés, Tortajada Agustin, Pinto Sheila, López-Trascasa Margarita, Sánchez-Corral Pilar, Morgan B Paul, Llorca Oscar, Harris Claire L, Rodríguez de Córdoba Santiago
Abstract excerpt
Atypical hemolytic uremic syndrome (aHUS) associates with complement dysregulation caused by mutations and polymorphisms in complement activators and regulators. However, the reasons why some mutations in complement proteins predispose to aHUS are poorly understood. Here, we have investigated the functional consequences of three aHUS-associated mutations in C3, R592W, R161W and I1157T. First, we provide evidence...
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