Wiskott-Aldrich Syndrome Protein (WASP) Syndrome Impair the Interaction of Mutations That Cause the Wiskott-Aldrich
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منابع مشابه
Wiskott-Aldrich Syndrome (WAS): A Case Report in Mauritius and Review
Wiskott-Aldrich is an X-lined recessive disorder typically characterized by thrombocytopenia, eczema and recurrent infections. We report the four year treatment progress of a six year old boy who initially presented with vesicular lesions over the trunk, upper and lower extremities and face and blood tinged stools at the age of 2 weeks. From the family pedigree, there were two suspected cases t...
متن کاملMechanisms of WASp-mediated hematologic and immunologic disease.
The Wiskott-Aldrich syndrome protein (WASp) is a key regulator of actin polymerization in hematopoietic cells. The dynamic nature of cytoskeletal changes during a variety of cellular processes demands complex mechanisms for coordinated integration of input signals, precise localization within the cell, and regulated activation of the Arp2/3 complex. Mutations in the Wiskott-Aldrich syndrome gen...
متن کاملComputational Analysis of Binding of the GBD Domain of WASP to Different Binding Partners
The GTP-ase binding domain (GBD) of the signaling protein Wiskott-Aldrich Syndrome Protein (WASP) is intrinsically disordered and mutations in it have been linked with Wiskott-Aldrich Syndrome (WAS), an X-linked disorder characterized by thrombocytopenia, eczema and recurrent infections. Here, we use molecular dynamics simulations and the semi-empirical GROMOS 45A3 force field to study interact...
متن کاملTwo novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.
Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are rare X-linked genetic disorders caused by mutations of the Wiskott-Aldrich syndrome protein (WASP) gene. Both disorders are clinically characterized by chronic thrombocytopenia of small platelets. WAS is a more severe form of the disorder and also courses with eczema, and immune dysfunction. In the present study, we investig...
متن کاملDetection of six novel mutations in WASP gene in fifteen Iranian Wiskott-Aldrich patients.
Wiskott-Aldrich syndrome (WAS) is a life-threatening X-linked recessive immunodeficiency disease described as a clinical triad of thrombocytopenia, eczema, and recurrent infections, caused by mutations of the WAS protein (WASP) gene. The milder form of this disease is X-linked thrombocytopenia (XLT) that presents only as platelet abnormalities. Mutation analysis for 15 boys with Wiskott-Aldrich...
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