Article
Megakaryocyte-specific Profilin1-deficiency alters microtubule stability and causes a Wiskott-Aldrich syndrome-like platelet defect.
Nature communications - 4 Sept 2014
Bender Markus, Stritt Simon, Nurden Paquita, van Eeuwijk Judith M M, Zieger Barbara, Kentouche Karim, Schulze Harald, Morbach Henner, Stegner David, Heinze Katrin G, Heinze Katrin, Dütting Sebastian, Gupta Shuchi, Witke Walter, Falet Hervé, Fischer Alain, Hartwig John H, Nieswandt Bernhard
Abstract excerpt
Wiskott-Aldrich syndrome (WAS) is caused by mutations in the WAS gene and is characterized by immunodeficiency, eczema and microthrombocytopenia. The molecular link between WAS mutations and microthrombocytopenia is unknown. Profilin1 (Pfn1) is a key actin-regulating protein that, besides actin, interacts with phosphoinositides and multiple proline-rich proteins, including the WAS protein (WASp)/WASp-interacting...
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