Ontology highlight
ABSTRACT:
SUBMITTER: Moulding DA
PROVIDER: S-EPMC2118706 | biostudies-literature | 2007 Sep
REPOSITORIES: biostudies-literature
Moulding Dale A DA Blundell Michael P MP Spiller David G DG White Michael R H MR Cory Giles O GO Calle Yolanda Y Kempski Helena H Sinclair Jo J Ancliff Phil J PJ Kinnon Christine C Jones Gareth E GE Thrasher Adrian J AJ
The Journal of experimental medicine 20070827 9
Specific mutations in the human gene encoding the Wiskott-Aldrich syndrome protein (WASp) that compromise normal auto-inhibition of WASp result in unregulated activation of the actin-related protein 2/3 complex and increased actin polymerizing activity. These activating mutations are associated with an X-linked form of neutropenia with an intrinsic failure of myelopoiesis and an increase in the incidence of cytogenetic abnormalities. To study the underlying mechanisms, active mutant WASp(I294T) ...[more]