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Volumn 10, Issue 4, 1998, Pages 407-412

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

Author keywords

[No Author keywords available]

Indexed keywords

COFILIN; GUANOSINE TRIPHOSPHATASE; PLECKSTRIN; PROLINE; PROTEIN;

EID: 0032146170     PISSN: 09527915     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0952-7915(98)80113-1     Document Type: Article
Times cited : (29)

References (46)
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    • of outstanding interest. This paper reports a phenotype/genotype correlation by analyzing mutations in WASP, the gene responsible for WAS, in 48 unrelated families. The clinical phenotype of X-linked thrombocytopenia (XLT) is delineated and the mutations associated with XLT described. The effect of WASP mutations on expression of WAS protein has been analyzed in patients with either classic WAS or XLT.
    • of outstanding interest Zhu Q, Watanabe C, Liu T, Hollenbaugh D, Blaese RM, Kanner SB, Aruffo A, Ochs HD. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP mutations, protein expression, and phenotype. Blood. 90:1997;2680-2689 This paper reports a phenotype/genotype correlation by analyzing mutations in WASP, the gene responsible for WAS, in 48 unrelated families. The clinical phenotype of X-linked thrombocytopenia (XLT) is delineated and the mutations associated with XLT described. The effect of WASP mutations on expression of WAS protein has been analyzed in patients with either classic WAS or XLT.
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    • of special interest. This group found that association of WASP and PSTPIP (proline-, serine-threonine- phosphatase interactive protein) decreases the actin-bundling activity of WASP and that the association is regulated by the phosphorylation of a tyrosine residue in the Src-homology-3 domain of PSTPIP.
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    • of outstanding interest. This group has identified a new WASP-associating molecule, WIP, which induces actin polymerization in lymphoid cells.
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    • of special interest. This article reports that cell lines from patients with Wiskott - Aldrich syndrome fail to reorganize actin cytoskeleton in response to anti-CD3 stimulation
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