2015
Munc18‐2 is required for Syntaxin 11 Localization on the Plasma Membrane in Cytotoxic T‐Lymphocytes
Dieckmann N, Hackmann Y, Aricò M, Griffiths G. Munc18‐2 is required for Syntaxin 11 Localization on the Plasma Membrane in Cytotoxic T‐Lymphocytes. Traffic 2015, 16: 1330-1341. PMID: 26771955, PMCID: PMC4791091, DOI: 10.1111/tra.12337.Peer-Reviewed Original ResearchConceptsCytotoxic T lymphocytesPlasma membraneMunc18-2Granule secretionT lymphocytesMunc18Syntaxin-11Fusion eventsFamilial haemophagocytic lymphohistiocytosisEndogenous localizationSyntaxinImmunological synapseSTX11Cytolytic granulesFHL4Loss of proteinHaemophagocytic lymphohistiocytosisPrimary immunodeficiencyProteinFHL5MembraneSecretionPlasmaLocalizationCytotoxicity
2013
Syntaxin binding mechanism and disease-causing mutations in Munc18-2
Hackmann Y, Graham S, Ehl S, Höning S, Lehmberg K, Aricò M, Owen D, Griffiths G. Syntaxin binding mechanism and disease-causing mutations in Munc18-2. Proceedings Of The National Academy Of Sciences Of The United States Of America 2013, 110: e4482-e4491. PMID: 24194549, PMCID: PMC3839780, DOI: 10.1073/pnas.1313474110.Peer-Reviewed Original ResearchConceptsProtein receptor binding sitesDisease-causing mutationsN-terminal peptideCytotoxic T lymphocytesMunc18-2Munc18Syntaxin-11Surface mutationsSyntaxinA-resolutionSTX11Natural killer cellsMolecular mechanismsReceptor binding sitesBinding sitesMutationsIL-2 activitySTX3Higher affinityBinding mechanismIn vitro IL-2 activationIL-2-activated cellsFamilial hemophagocytic lymphohistiocytosisBindingSelective binding
2009
Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11
Stadt U, Rohr J, Seifert W, Koch F, Grieve S, Pagel J, Strauß J, Kasper B, Nürnberg G, Becker C, Maul-Pavicic A, Beutel K, Janka G, Griffiths G, Ehl S, Hennies H. Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11. American Journal Of Human Genetics 2009, 85: 482-492. PMID: 19804848, PMCID: PMC2756548, DOI: 10.1016/j.ajhg.2009.09.005.Peer-Reviewed Original ResearchConceptsSyntaxin-11FHL-5Regulation of vesicle transportHigh-resolution SNP genotypingBinding to syntaxinFamilial hemophagocytic lymphohistiocytosis type 5Lytic granule exocytosisSyntaxin binding protein 2Secretion of cytotoxic granulesSNARE proteinsBinding protein 2Vesicle transportChromosome 19pMunc18-2Familial hemophagocytic lymphohistiocytosisSNP genotypingGranule exocytosisIntracellular transportSyntaxinInteraction partnersConsanguineous familyMissense mutationsAutosomal-recessive disorderPlasma membraneImmunological synapse
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