Article
Structural basis of Wiskott-Aldrich syndrome causing mutations in the WH1 domain.
Journal of molecular medicine (Berlin, Germany) - 1 Jan 2000
Rong S B, Vihinen M
Abstract excerpt
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency disease associated with eczema, hemorrhagic episodes, and recurrent severe infections. The N-terminus of the cytoplasmic WAS protein (WASP) has similarity to WH1 domains, which recognize proline-rich sequences and direct protein localization and formation of multicomponent assemblies. About one-half of the WAS-causing mutations affect the...
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