title: Wiskott-Aldrich syndrome: a gene, a multifunctional protein and the beginnings of an explanation.
abstract: Patients with Wiskott-Aldrich syndrome show various defects in the normal function of platelets and lymphocytes. The recent identification of the gene responsible for this syndrome has led to a surge of studies aimed at solving the puzzle posed by the varied phenotype observed in this disease. It is now known that WASP, the protein product of this gene, can interact with a large number of other proteins known to be involved in the regulation of signal transduction and cytoskeletal organization. Thus, WASP appears to integrate these two basic and fundamental cellular mechanisms. Several groups are now focusing on understanding the function of WASP in detail, and translating this new knowledge into improved therapies.
authors.affiliation: Center for Blood Research, Boston, MA 02115, USA. kirchhausen@crystal.harvard.edu
authors.forename: T
authors.initials: T
authors.lastname: Kirchhausen
mesh_terms: D006801:Humans; D011506:Proteins / Q000235:genetics* / Q000378:metabolism*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein