Article
LIM kinase/cofilin dysregulation promotes macrothrombocytopenia in severe von Willebrand disease-type 2B.
JCI insight - 6 Oct 2016
Kauskot Alexandre, Poirault-Chassac Sonia, Adam Frédéric, Muczynski Vincent, Aymé Gabriel, Casari Caterina, Bordet Jean-Claude, Soukaseum Christelle, Rothschild Chantal, Proulle Valérie, Pietrzyk-Nivau Audrey, Berrou Eliane, Christophe Olivier D, Rosa Jean-Philippe, Lenting Peter J, Bryckaert Marijke, Denis Cécile V, Baruch Dominique
Abstract excerpt
von Willebrand disease type 2B (VWD-type 2B) is characterized by gain-of-function mutations of von Willebrand factor (vWF) that enhance its binding to platelet glycoprotein Ibα and alter the protein's multimeric structure. Patients with VWD-type 2B display variable extents of bleeding associated with macrothrombocytopenia and sometimes with thrombopathy. Here, we addressed the molecular mechanism underlying the...
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