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Mutation of the H-bond acceptor S119 in the ADAMTS13 metalloprotease domain reduces secretion and substrate turnover in a patient with congenital thrombotic thrombocytopenic purpura
Blood, 10/02/09

Feys HB et al. – Hereditary thrombotic thrombocytopenic purpura is caused by mutations in ADAMTS13 resulting in defective processing of von Willebrand factor (VWF) which causes intravascular platelet aggregation culminating in thrombocytopenia with shistocytic anemia. In this study the functional and structural role of a recently identified ADAMTS13 metalloprotease domain mutation S119F was investigated. The S119–W262 H–bond is crucial for maximal turnover.

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