2010
Functional characterisation of Munc18–2 missense mutations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5)
Koch F, Pagel J, Ehl S, Griffiths G, Hennies H, Beutel K, Horstmann M, zur Stadt U. Functional characterisation of Munc18–2 missense mutations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5). Klinische Pädiatrie 2010, 222 DOI: 10.1055/s-0030-1254490.Peer-Reviewed Original ResearchFamilial hemophagocytic lymphohistiocytosis type 5Functional characterisationMissense mutationsFHL-5
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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