| http://purl.uniprot.org/citations/29599780 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/29599780 | http://www.w3.org/2000/01/rdf-schema#comment | "The ability of cytotoxic lymphocytes (CL) to eliminate virus-infected or cancerous target cells through the granule exocytosis death pathway is critical to immune homeostasis. Congenital loss of CL function due to bi-allelic mutations in PRF1, UNC13D, STX11, or STXBP2 leads to a potentially fatal immune dysregulation, familial haemophagocytic lymphohistiocytosis (FHL). This occurs due to the failure of CLs to release functional pore-forming protein perforin and, therefore, inability to kill the target cell. Bi-allelic mutations in partner proteins STXBP2 or STX11 impair CL cytotoxicity due to failed docking/fusion of cytotoxic secretory granules with the plasma membrane. One unique feature of STXBP2- and STX11-deficient patient CLs is that their short-term in vitro treatment with a low concentration of IL-2 partially or completely restores natural killer (NK) cell degranulation and cytotoxicity, suggesting the existence of a secondary, yet unknown, pathway for secretory granule exocytosis. In the current report, we studied NK and T-cell function in an individual with late presentation of FHL due to hypomorphic bi-allelic mutations in STXBP2. Intriguingly, in addition to the expected alterations in the STXBP2 and STX11 proteins, we also observed a concomitant significant reduction in the expression of homologous STXBP1 protein and its partner STX1, which had never been implicated in CL function. Further analysis of human NK and T cells demonstrated a functional role for the STXBP1/STX1 axis in NK and CD8+ T-cell cytotoxicity, where it appears to be responsible for as much as 50% of their cytotoxic activity. This discovery suggests a unique and previously unappreciated interplay between STXBP/Munc proteins regulating the same essential granule exocytosis pathway."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.org/dc/terms/identifier | "doi:10.3389/fimmu.2018.00529"xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Lopez J.A."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Minson A."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Brown N.J."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Darcy P.K."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Trapani J.A."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Hildebrand M.S."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Noori T."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Voskoboinik I."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Kershaw M.H."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Grigg A."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Thia K."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Akhlaghi H."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/author | "Li Jovanoska L."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/date | "2018"xsd:gYear |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/name | "Front Immunol"xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/pages | "529"xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/title | "Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing."xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://purl.uniprot.org/core/volume | "9"xsd:string |
| http://purl.uniprot.org/citations/29599780 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/29599780 |
| http://purl.uniprot.org/citations/29599780 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/29599780 |
| http://purl.uniprot.org/uniprot/#_P61764-mappedCitation-29599780 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/29599780 |
| http://purl.uniprot.org/uniprot/#_B7Z1V5-mappedCitation-29599780 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/29599780 |