Molecular biology of the Wiskott-Aldrich syndrome

Reviews in Immunogenetics

Volumn 2, Issue 2, 2000, Pages 243-255

  Rengan, R ^a   Ochs, H D ^a  

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

Author keywords

Actin cytoskeletal signaling; Apoptosis; Arp 2 3 complex; Cytoskeletal reorganization; Eczema; Genotype phenotype; GTPase binding domain; Mutations of WASP; Pleckstrin homology domain; SH3 domain; Small platelets; Thrombocytopenia

Indexed keywords

GUANOSINE TRIPHOSPHATASE; PLECKSTRIN; PROTEIN;

ACTIN POLYMERIZATION; APOPTOSIS; CANCER; CELL MOTILITY; DIARRHEA; ECZEMA; GENE DELETION; GENE INSERTION; GENOTYPE; HUMAN; IMMUNE DEFICIENCY; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; RECURRENT INFECTION; REVIEW; SIGNAL TRANSDUCTION; THROMBOCYTE; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME; X CHROMOSOME LINKED DISORDER;

HUMAN; MOLECULAR BIOLOGY; PHOSPHORYLATION; PROTEINS; WISKOTT-ALDRICH SYNDROME;

EID: 0033791690     PISSN: 13981714     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

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15. A high-resolution map of genes, microsatellite markers, and new dinucleotide repeats from UBE1 to the GATA locus in the region Xp11.23
16. Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome
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18. N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kinases
19. Identification of N-WASP homologs in human and rat brain
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31. A conserved binding motif defines numerous candidate target proteins for both Cdc42 and Rac GTPases
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35. The proline-rich focal adhesion and microfilament protein VASP is a ligand for profilins
36. Structural basis for the binding of proline-rich peptides to SH3 domains
37. Wiskott-Aldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells
38. Wiscott-Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases
39. Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains
40. Evidence that the Wiskott-Aldrich syndrome protein may be involved in lymphoid cell signaling pathways
41. Identification of Itk/Tsk Src homology 3 domain ligands
42. PSTPIP 2, a second tyrosine phosphorylated, cytoskeletal-associated protein that binds a PEST-type protein-tyrosine phosphatase
43. A proline-rich protein, verprolin, involved in cytoskeletal organization and cellular growth in the yeast Saccharomyces cerevisiae
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46. Induction of filopodium formation by a WASP-related actin-depolymerizing protein N-WASP
47. Scar1 and the related Wiskott-Aldrich syndrome protein WASP regulate the actin cytoskeleton through the Arp 2/3 complex
48. Purification of a cortical complex containing two unconventional actins from Acanthomoeba by affinity-chromatography in profilin-agarose
49. The human Arp 2/3 complex is composed of evolutionarily conserved subunits and is localized to cellular regions of dynamic actin filament assembly
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53. The complex containing actin-related proteins Arp2 and Arp3 is required for the motility and integrity of yeast actin patches
54. Signaling to actin: The Cdc42-N-WASP-Arp2/3 connection
55. The Wiskott-Aldrich syndrome protein directs actin-based motility by stimulating actin nucleation with the Arp2/3 complex
56. The human WASP-interacting protein, WIP, activates the cell polarity pathway in yeast
57. Actin-binding verprolin is a polarity development protein required for the morphogenesis and function of the yeast actin cytoskeleton
58. Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein
59. F-actin capping proteins
60. Pleckstrin homology domains bind to phosphatidylinositol-4,5-bisphosphate
61. The pleckstrin homology domain of the Wiskott-Aldrich syndrome protein is involved in the organization of actin cytoskeleton
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68. The Ras-related protein Cdc42Hs and bradykinin promote formation of peripheral actin microspikes and filopodia in Swiss 3T3 fibroblasts
69. Actin cytoskeletal function is spared, but apoptosis is increased in WAS patient hematopoietic cells
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84. Tyrosine phosphorylation of the Wiskott-Aldrich Syndrome protein by Lyn and Btk is regulated by CDC42
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86. Collagen induces tyrosine phosphorylation of Wiskott-Aldrich syndrome protein in human platelets
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99. Detection of a novel splicesite mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome
100. Characterization of a deletion mutation involving exons 3-7 of the WASP gene detected in a patient with Wiskott-Aldrich syndrome
101. A case of Wiskott-Aldrich syndrome with dual mutations in exon 10 of the WASP gene: An additional de novo one-base insertion, which restores frame shift due to an inherent one-base deletion, detected in the major population of the patient's peripheral blood lymphocytes
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108. Heterogeneity in filamentous actin content among individual human blood platelets