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Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
Blood. 2015 Mar 5;125(10):1566-77. doi: 10.1182/blood-2014-11-610816. Epub 2015 Jan 6.
Blood. 2015.
PMID: 25564401
Free PMC article.
Munc18a controls SNARE assembly through its interaction with the syntaxin N-peptide.
Burkhardt P, Hattendorf DA, Weis WI, Fasshauer D.
Burkhardt P, et al.
EMBO J. 2008 Apr 9;27(7):923-33. doi: 10.1038/emboj.2008.37. Epub 2008 Mar 13.
EMBO J. 2008.
PMID: 18337752
Free PMC article.
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Evidence for a conserved inhibitory binding mode between the membrane fusion assembly factors Munc18 and syntaxin in animals.
Morey C, Kienle CN, Klöpper TH, Burkhardt P, Fasshauer D.
Morey C, et al.
J Biol Chem. 2017 Dec 15;292(50):20449-20460. doi: 10.1074/jbc.M117.811182. Epub 2017 Oct 18.
J Biol Chem. 2017.
PMID: 29046354
Free PMC article.
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