Article
Activating WASP mutations associated with X-linked neutropenia result in enhanced actin polymerization, altered cytoskeletal responses, and genomic instability in lymphocytes.
The Journal of experimental medicine - 7 Jun 2010
Westerberg Lisa S, Meelu Parool, Baptista Marisa, Eston Michelle A, Adamovich David A, Cotta-de-Almeida Vinicius, Seed Brian, Rosen Michael K, Vandenberghe Peter, Thrasher Adrian J, Klein Christoph, Alt Frederick W, Snapper Scott B
Abstract excerpt
X-linked neutropenia (XLN) is caused by activating mutations in the Wiskott-Aldrich syndrome protein (WASP) that result in aberrant autoinhibition. Although patients with XLN appear to have only defects in myeloid lineages, we hypothesized that activating mutations of WASP are likely to affect th...
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