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  • Title: Wiskott-Aldrich syndrome: a disorder of haematopoietic cytoskeletal regulation.
    Author: Thrasher AJ, Burns S.
    Journal: Microsc Res Tech; 1999 Oct 15; 47(2):107-13. PubMed ID: 10523789.
    Abstract:
    The Wiskott-Aldrich Syndrome (WAS) is a rare inherited X-linked recessive disease characterised by immune dysregulation and microthrombocytopenia. Recently, the biological mechanisms that are responsible for the pathophysiology of WAS have been shown to be linked to the regulation of the actin cytoskeleton in haematopoietic cells. The WAS protein (WASp) is now known to be a member of a unique family that share similar domain structures, and that are responsible for transduction of signals from the cell membrane to the actin cytoskeleton. The interactions between WASp, the Rho family GTPase Cdc42, and the cytoskeletal organising complex Arp2/3 are probably critical to many of these functions, which, when disturbed, translate into measurable defects of cell polarisation and motility.
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