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Items: 3

1.
An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2
Martha-Lena Müller, Samuel C. C. Chiang, Marie Meeths, Bianca Tesi, Miriam Entesarian, Daniel Nilsson, Stephanie M. Wood, Magnus Nordenskjöld, Jan-Inge Henter, Ahmed Naqvi, Yenan T. Bryceson
Front Immunol. 2013; 4: 515. Prepublished online 2013 Nov 27. Published online 2014 Jan 14. doi: 10.3389/fimmu.2013.00515
PMCID:
PMC3890652
AbstractArticlePDF–1.3M
2.
Syntaxin binding mechanism and disease-causing mutations in Munc18-2
Yvonne Hackmann, Stephen C. Graham, Stephan Ehl, Stefan Höning, Kai Lehmberg, Maurizio Aricò, David J. Owen, Gillian M. Griffiths
Proc Natl Acad Sci U S A. 2013 Nov 19; 110(47): E4482–E4491. Published online 2013 Nov 5. doi: 10.1073/pnas.1313474110
PMCID:
PMC3839780
AbstractArticlePDF–1.9M
3.
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease‐free remissions and haematopoietic malignancies
E Rudd, K Göransdotter Ericson, C Zheng, Z Uysal, A Özkan, A Gürgey, B Fadeel, M Nordenskjöld, J‐I Henter
J Med Genet. 2006 Apr; 43(4): e14. doi: 10.1136/jmg.2005.035253
PMCID:
PMC2563216
AbstractArticlePDF–185K

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