| http://purl.uniprot.org/citations/10758162 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10758162 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10758162 | http://www.w3.org/2000/01/rdf-schema#comment | "A 5-week-old male infant presented with severe bacterial infections and poor wound healing, suggesting a neutrophil defect. Neutrophils from this patient exhibited decreased chemotaxis, polarization, azurophilic granule secretion, and superoxide anion (O(2)(-)) production but had normal expression and up-regulation of CD11b. Rac2, which constitutes >96% of the Rac in neutrophils, is a member of the Rho family of GTPases that regulates the actin cytoskeleton and O(2)(-) production. Western blot analysis of lysates from patient neutrophils demonstrated decreased levels of Rac2 protein. Addition of recombinant Rac to extracts of the patient neutrophils reconstituted O(2)(-) production in an in vitro assay system. Molecular analysis identified a point mutation in one allele of the Rac2 gene resulting in the substitution of Asp57 by an Asn (Rac2(D57N)). Asp57 is invariant in all defined GTP-binding proteins. Rac2(D57N) binds GDP but not GTP and inhibits oxidase activation and O(2)(-) production in vitro. These data represent the description of an inhibitory mutation in a member of the Rho family of GTPases associated with a human immunodeficiency syndrome."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.080074897"xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.org/dc/terms/identifier | "doi:10.1073/pnas.080074897"xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Roos D."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Roos D."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Panepinto J."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Panepinto J."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "deBoer M."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "deBoer M."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Abell A.N."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Abell A.N."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Johnson G.L."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Johnson G.L."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Ambruso D.R."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Ambruso D.R."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Gonzalez-Aller C."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Gonzalez-Aller C."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Harbeck R.J."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Harbeck R.J."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Hiester A."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Hiester A."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Knall C."xsd:string |
| http://purl.uniprot.org/citations/10758162 | http://purl.uniprot.org/core/author | "Knall C."xsd:string |