Mechanisms of WASp-mediated hematologic and immunologic disease

Author:

Burns Siobhan1,Cory Giles O.1,Vainchenker William1,Thrasher Adrian J.1

Affiliation:

1. From the Molecular Immunology Unit, Institute of Child Health, University College London, United Kingdom; Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom; the Biochemistry Department, University of Bristol, Bristol, United Kingdom; and the Institut National de la santé etdela recherche médicale (INSERM) Unit 362 and Institut Gustave Roussy, INSERM U 362, Hematopoièse et cellules souches, Villejuif, Cedex, France.

Abstract

The Wiskott-Aldrich syndrome protein (WASp) is a key regulator of actin polymerization in hematopoietic cells. The dynamic nature of cytoskeletal changes during a variety of cellular processes demands complex mechanisms for coordinated integration of input signals, precise localization within the cell, and regulated activation of the Arp2/3 complex. Mutations in the Wiskott-Aldrich syndrome gene either inhibit or dysregulate normal WASp function, resulting in clinical diseases with complex and disparate phenotypes. This review highlights recent advances that have enhanced our understanding of the mechanisms by which these molecular defects cause hematologic and immunologic disease.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Reference130 articles.

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