Recombinant Human Wiskott-Aldrich syndrome protein (WAS)

1. study indicates that anti-inflammatory macrophage function and mucosal immune tolerance require both WASP and DOCK8, and that IL-10 signalling modulates a WASP-DOCK8 complex PMID: 29725003
2. A novel WASP mutation (I290T) was found in an X-linked neutropenia patient and in his heterozygous mother. This mutation was located in the GTPase-binding domain. PMID: 28956125
3. In a model of sterile inflammation utilizing TLR4 ligation followed by ATP or nigericin treatment, inflammasome activation is enhanced in monocytes from WAS patients. PMID: 29146903
4. Despite the lack of typical clinical manifestations of WAS, low expression of WASP could be associated with the pathogenesis of a subtype of inflammatory bowel disease patients. PMID: 29358862
5. expression of WASP inversely correlates with BCR-ABL1 levels and the progression of the disease in Chronic myeloid leukemia patients. downregulation of WASP contributes to the resistance to apoptosis and to BCR-ABL1-induced tumorigenesis. PMID: 29022901
6. The coverage and depth of WASP were extremely low. PMID: 28901403
7. WIP residues 454-456 are the major contributor to WASp affinity, and residues 449-451 were found to have the largest effect upon WASp ubiquitylation and, presumably, degradation. PMID: 29215267
8. Novel WASP mutations were found in two patients with X-linked thrombocytopenia and their families. PMID: 28641574
9. High WASP expression is associated with lung cancer invasion. PMID: 28351346
10. A Treg-specific role for WASP is required for prevention of Th2 effector cell differentiation and allergic sensitization to dietary antigens. PMID: 27643438
11. WASP and SCAR drive pseudopod formation and are conserved in actin-filled pseudopod-based motility. PMID: 28473602
12. Authors show that knock-down of WASp or expression of Y102F mutant of WASp decreases colony formation and in vivo tumor growth. Results show that WASp is a novel substrate of ALK and has a critical role in regulating invasiveness and oncogenesis of ALCL. PMID: 27694894
13. this study describes an Iranian boy with Wiskott-Aldrich syndrome with a novel WASP mutation PMID: 26993433
14. The inducible recruitment of WASp to the TCR-CD3 complex is partially dependent of tyrosine phosphorylation of Cd3e. PMID: 26342115
15. retrospectively investigated the outcome of hematopoietic stem cell transplantation in a cohort of 24 patients with the X-linked thrombocytopenia phenotype and mutations in the WAS gene PMID: 25388447
16. This suggests that N-WASP's failure to compensate for WASP in rescuing chemotaxis could be due to the absence of this I30 region. PMID: 26463123
17. N-WASP is downregulated in clear cell renal cell carcinoma PMID: 25115631
18. Studies indicate that mutations in the Wiskott-Aldrich syndrome protein (WASp) gene cause a continuum of clinical symptoms ranging from intermittent X-linked thrombocytopenia to full classical Wiskott-Aldrich syndrome (WAS). PMID: 26159751
19. Platelet actin nodule formation is dependent on WASp and the ARP2/3 complex. PMID: 26028144
20. conclude that tyrosine phosphorylation of WIP is a crucial regulator of WASP stability and function as an actin-nucleation-promoting factor PMID: 25413351
21. WASP, RUNX1, and ANKRD26 genes are important for normal TPO signaling and the network underlying thrombopoiesis. PMID: 26175287
22. The introduction of functional WASp by GT corrected the alterations of both central and peripheral B cell tolerance checkpoints. WASp plays an important role in the establishment and maintenance of B cell tolerance in humans. PMID: 26368308
23. We describe two Malay patients with classical Wiskott-Aldrich Syndrome with two different mutations in the WASP gene PMID: 26277674
24. we identify small ubiquitin-related modifier (SUMO)ylation as a novel posttranslational modification of WASp PMID: 26261240
25. A total of 60 unique WAS mutations were identified in Chinese patients, including 20 novel mutations and 8 hotspots, from 75 unrelated families with a total of 81 affected members. PMID: 25931402
26. studies discovered that HMGB1 suppressed phosphorylation, nuclear translocation, and activation of CREB, by inhibiting nuclear translocation of PKA catalytic subunit PMID: 25277185
27. data suggest that missense mutations WASPRL46P or WASPRA47D affect the activity of WASP in T cell chemotaxis probably by affecting the turnover of the protein. PMID: 25200405
28. An indispensable relationship between nuclear-WASp- and hSWI/SNF-complexes in gene activation and molecular distinctions in TH cells that might contribute to disease severity in the X-linked thrombocytopenia/Wiskott-Aldrich syndrome clinical spectrum. PMID: 25253772
29. Data indicate the WASp-interacting protein (WIP)-Wiskott-Aldrich syndrome protein (WASp) interaction in the regulation of actin-dependent processes. PMID: 24962707
30. WASp and WAVE2 differ in their dynamics and their associated proteins PMID: 25342748
31. WAS gene mutation is associated with X-linked thrombocytopenia in three males with normal sized platelets. PMID: 25154619
32. WASP deficiency perturbs the homeostasis of B-cell compartment in humans. PMID: 24369837
33. Data indicate that mycolactone analogues bind Wiskott-Aldrich syndrome proteins (WASP} with IC50 in the 50-10 muM range. PMID: 25158122
34. These findings support a contributory role for defective Breg cells in the development of WAS-related autoimmunity PMID: 24945741
35. study unveils an ARP2/3:VCA-independent function of nuclear-WASp in TH1 gene activation that is uncoupled from its cytoplasmic role in actin polymerization. PMID: 24872192
36. Pro373Ser mutation reduces Tyr291 phosphorylation and prevents conformational changes required for WASP activity in chemotaxis and T-cell activation. PMID: 24440360
37. Missense mutation in the WAS gene is associated with intermittent X-linked thrombocytopenia. PMID: 24115682
38. We conclude that WASp function restricts TGF-b1 secretion in a Cdc42- and Src family kinase-dependent manner and independently of actin assembly PMID: 24133214
39. We present two cases of WAS in neonates with WAS gene mutations PMID: 23301916
40. Dedicator of cytokinesis 8 interacts with talin and Wiskott-Aldrich syndrome protein to regulate NK cell cytotoxicity. PMID: 23455509
41. Data indicate that slit2N alters the localization and binding of Robo1 to WASp and LSP1 in HIV-1-gp120-treated immature dendritic cells (iDCs). PMID: 23119100
42. Report five previously reported mutations and six novel mutations in WASP gene in Iranian Wiskott-Aldrich patients. PMID: 23264413
43. this is the first report describing TTP in WAS patients with novel mutation in the WASP gene. PMID: 23237501
44. Despite mediating enhanced actin polymerization, EVH1 missense-mutated human proteins did not function fully in mouse cells, even when overexpressed. Mutant protein retention in podosomes was impaired & associated with low WASp Tyr phosphorylation. PMID: 23160469
45. study describes that both N-WASp and WASp participate in the inhibition of NK-cell chemotaxis in response to NKG2D WASp engagement, and that this effect is not dependent on the regulation of F-actin dynamics PMID: 22585739
46. WASP-deficient T cells migrated in a normal proportion towards CXCL12, CCL19 and CCL21, but displayed an increased adhesion and elongation on ICAM-1 PMID: 22804504
47. data suggest that regulated degradation of activated WASp might be an efficient strategy by which the duration and localization of actin rearrangement and the intensity of T-cell activation are controlled. PMID: 22665495
48. The wild-type WASp, but not the mutant restored adhesion capacity, spreading morphology, and cytoskeletal reorganization. PMID: 22311461
49. Mutation in WASP gene is associated with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. PMID: 22038941
50. the c.273+11dup change within the WAS gene was observed in patients showing symptoms consistent with the Wiskott-Aldrich syndrome; concluded that the presence of the additional C in the WAS gene is a functionally neutral polymorphism PMID: 21711396

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HGNC: 12731

OMIM: 300299

KEGG: hsa:7454

STRING: 9606.ENSP00000365891

UniGene: Hs.2157