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Curr Opin Immunol. 1998 Aug;10(4):407-12.

Characterization of the Wiskott-Aldrich syndrome protein and its role in the disease.

Author information

1
Department of Pediatrics, School of Medicine, Tokyo Medical and Dental University, Bunkyo-ku, Tokyo, Japan. snonoyama.ped@med.tmd.ac.jp

Abstract

Wiskott-Aldrich syndrome is an X-linked disorder characterized by thrombocytopenia, eczema and immunodeficiency. The Wiskott-Aldrich syndrome protein and the gene that encodes it have been identified by positional cloning and the protein has been shown to contain a pleckstrin-homology domain, a GTPase-binding domain, a proline-rich region and a verprolin/cofilin homology domain. Subsequent studies suggest that the protein is involved in signal transduction and the regulation of the cytoskeleton.

PMID:
9722916
DOI:
10.1016/s0952-7915(98)80113-1
[Indexed for MEDLINE]

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