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Select item 75805321.

STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis

Nathalia Benavides, Waldo A. Spessott, Maria L. Sanmillan, Marcelo Vargas, Mylynda S. Livingston, Nissa Erickson, Tamara C. Pozos, Margaret E. McCormick, Emilia Scharrig, Yoav H. Messinger, Claudio G. Giraudo

Front Immunol. 2020; 11: 545414. Published online 2020 Oct 8. doi: 10.3389/fimmu.2020.545414

PMCID:: PMC7580532

Article PDF–3.5M

Select item 54648872.

Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study

Yoshiji Yamada, Jun Sakuma, Ichiro Takeuchi, Yoshiki Yasukochi, Kimihiko Kato, Mitsutoshi Oguri, Tetsuo Fujimaki, Hideki Horibe, Masaaki Muramatsu, Motoji Sawabe, Yoshinori Fujiwara, Yu Taniguchi, Shuichi Obuchi, Hisashi Kawai, Shoji Shinkai, Seijiro Mori, Tomio Arai, Masashi Tanaka

Oncotarget. 2017 May 16; 8(20): 33527–33535. Published online 2017 Mar 23. doi: 10.18632/oncotarget.16536

PMCID:: PMC5464887

Article PDF–1.5M

Select item 49813593.

Hemophagocytic Lymphohistocytosis in the Chinese Han Population May Be Associated with an STXBP2 Gene Polymorphism

Li Yang, Yang Tang, Fang’Xi Xiao, Jie Xiong, Ke’Feng Shen, Ya’Nan Liu, Wei Zhang, Li’Chang Zheng, Jian’Feng Zhou, Min Xiao

PLoS One. 2016; 11(8): e0159454. Published online 2016 Aug 11. doi: 10.1371/journal.pone.0159454

PMCID:: PMC4981359

Article PDF–2.0M

Select item 43515054.

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion

Waldo A. Spessott, Maria L. Sanmillan, Margaret E. McCormick, Nishant Patel, Joyce Villanueva, Kejian Zhang, Kim E. Nichols, Claudio G. Giraudo

Blood. 2015 Mar 5; 125(10): 1566–1577. Prepublished online 2015 Jan 6. doi: 10.1182/blood-2014-11-610816

PMCID:: PMC4351505

Article

Select item 41152595.

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

Valentina Cetica, Alessandra Santoro, Kimberly C Gilmour, Elena Sieni, Karin Beutel, Daniela Pende, Stefania Marcenaro, Florian Koch, Samantha Grieve, Rachel Wheeler, Fang Zhao, Udo zur Stadt, Gillian M Griffiths, Maurizio Aricò

J Med Genet. Author manuscript; available in PMC 2014 Jul 30.

Published in final edited form as: J Med Genet. 2010 Sep; 47(9): 595–600. doi: 10.1136/jmg.2009.075341

PMCID:: PMC4115259

Article PDF–1.0M

Select item 38397806.

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

Article PDF–1.9M

Select item 36465787.

Novel Mutation in Syntaxin-Binding Protein 2 (STXBP2) Prevents IL-2-induced Natural Killer Cell Cytotoxicity

Rushani W. Saltzman, Linda Monaco-Shawver, Kejian Zhang, Kathleen E. Sullivan, Alexandra H. Filipovich, Jordan S. Orange

J Allergy Clin Immunol. Author manuscript; available in PMC 2013 Jun 1.

Published in final edited form as: J Allergy Clin Immunol. 2012 Jun; 129(6): 1666–1668. Published online 2012 Feb 14. doi: 10.1016/j.jaci.2011.12.1003

PMCID:: PMC3646578

Article PDF–934K

Select item 36401218.

Development of classical Hodgkin’s lymphoma in an adult with biallelic STXBP2 mutations

Maciej Machaczka, Monika Klimkowska, Samuel C.C. Chiang, Marie Meeths, Martha-Lena Müller, Britt Gustafsson, Jan-Inge Henter, Yenan T. Bryceson

Haematologica. 2013 May; 98(5): 760–764. doi: 10.3324/haematol.2012.073098

PMCID:: PMC3640121

Article PDF–1.4M

Select item 29948029.

Subtypes of Familial Hemophagocytic Lymphohistiocytosis in Japan Based on Genetic and Functional Analyses of Cytotoxic T Lymphocytes

Kozo Nagai, Ken Yamamoto, Hiroshi Fujiwara, Jun An, Toshiki Ochi, Koichiro Suemori, Takahiro Yasumi, Hisamichi Tauchi, Katsuyoshi Koh, Maho Sato, Akira Morimoto, Toshio Heike, Eiichi Ishii, Masaki Yasukawa

PLoS One. 2010; 5(11): e14173. Published online 2010 Nov 30. doi: 10.1371/journal.pone.0014173

PMCID:: PMC2994802

Article PDF–993K

Select item 619806110.

Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2–Deficient Intestinal Organoids

Mohammed H. Mosa, Ophélie Nicolle, Sophia Maschalidi, Fernando E. Sepulveda, Aurelien Bidaud-Meynard, Constantin Menche, Birgitta E. Michels, Grégoire Michaux, Geneviève de Saint Basile, Henner F. Farin

Cell Mol Gastroenterol Hepatol. 2018; 6(4): 477–493.e1. Published online 2018 Aug 14. doi: 10.1016/j.jcmgh.2018.08.001

PMCID:: PMC6198061

Article PDF–8.8M

Select item 586279111.

Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing

Jamie A. Lopez, Tahereh Noori, Adrian Minson, Lu Li Jovanoska, Kevin Thia, Michael S. Hildebrand, Hedieh Akhlaghi, Phillip K. Darcy, Michael H. Kershaw, Natasha J. Brown, Andrew Grigg, Joseph A. Trapani, Ilia Voskoboinik

Front Immunol. 2018; 9: 529. Published online 2018 Mar 15. doi: 10.3389/fimmu.2018.00529

PMCID:: PMC5862791

Article PDF–1.9M

Select item 547450812.

Munc18b Increases Insulin Granule Fusion, Restoring Deficient Insulin Secretion in Type-2 Diabetes Human and Goto-Kakizaki Rat Islets with Improvement in Glucose Homeostasis

Tairan Qin, Tao Liang, Dan Zhu, Youhou Kang, Li Xie, Subhankar Dolai, Shuzo Sugita, Noriko Takahashi, Claes-Goran Ostenson, Kate Banks, Herbert Y. Gaisano

EBioMedicine. 2017 Feb; 16: 262–274. Published online 2017 Jan 22. doi: 10.1016/j.ebiom.2017.01.030

PMCID:: PMC5474508

Article PDF–1.8M

Select item 450475613.

Late-onset Severe Chronic Active EBV in a Patient for Five Years with Mutations in STXBP2 (MUNC18-2) and PRF1 (Perforin 1)

Jeffrey I. Cohen, Julie E. Niemela, Jennifer L. Stoddard, Stefania Pittaluga, Helen Heslop, Elaine S. Jaffe, Kennichi Dowdell

J Clin Immunol. Author manuscript; available in PMC 2016 Jul 1.

Published in final edited form as: J Clin Immunol. 2015 Jul; 35(5): 445–448. Published online 2015 May 7. doi: 10.1007/s10875-015-0168-y

PMCID:: PMC4504756

Article PDF–354K

Select item 344826114.

Munc18b/STXBP2 is required for platelet secretion

Rania Al Hawas, Qiansheng Ren, Shaojing Ye, Zubair A. Karim, Alexandra H. Filipovich, Sidney W. Whiteheart

Blood. 2012 Sep 20; 120(12): 2493–2500. Prepublished online 2012 Jul 12. doi: 10.1182/blood-2012-05-430629

PMCID:: PMC3448261

Article

Select item 299556615.

Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases

Jan Rohr, Karin Beutel, Andrea Maul-Pavicic, Thomas Vraetz, Jens Thiel, Klaus Warnatz, Ilka Bondzio, Ute Gross-Wieltsch, Michael Schündeln, Barbara Schütz, Wilhelm Woessmann, Andreas H. Groll, Brigitte Strahm, Julia Pagel, Carsten Speckmann, Gritta Janka, Gillian Griffiths, Klaus Schwarz, Udo zur Stadt, Stephan Ehl

Haematologica. 2010 Dec; 95(12): 2080–2087. Published online 2010 Sep 7. doi: 10.3324/haematol.2010.029389

PMCID:: PMC2995566

Article PDF–1.1M

Select item 322849616.

Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH

Kejian Zhang, Michael B. Jordan, Rebecca A. Marsh, Judith A. Johnson, Diane Kissell, Jarek Meller, Joyce Villanueva, Kimberly A. Risma, Qian Wei, Peter S. Klein, Alexandra H. Filipovich

Blood. 2011 Nov 24; 118(22): 5794–5798. Prepublished online 2011 Aug 31. doi: 10.1182/blood-2011-07-370148

PMCID:: PMC3228496

Article

Select item 278681017.

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

Marjorie Côte, Mickaël M. Ménager, Agathe Burgess, Nizar Mahlaoui, Capucine Picard, Catherine Schaffner, Fahad Al-Manjomi, Musa Al-Harbi, Abdullah Alangari, Françoise Le Deist, Andrew R. Gennery, Nathalie Prince, Astrid Cariou, Patrick Nitschke, Ulrich Blank, Gehad El-Ghazali, Gaël Ménasché, Sylvain Latour, Alain Fischer, Geneviève de Saint Basile

J Clin Invest. 2009 Dec 1; 119(12): 3765–3773. Published online 2009 Nov 2. doi: 10.1172/JCI40732

PMCID:: PMC2786810

Article PDF–1.7M

Select item 275654818.

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

Udo zur Stadt, Jan Rohr, Wenke Seifert, Florian Koch, Samantha Grieve, Julia Pagel, Julia Strauß, Brigitte Kasper, Gudrun Nürnberg, Christian Becker, Andrea Maul-Pavicic, Karin Beutel, Gritta Janka, Gillian Griffiths, Stephan Ehl, Hans Christian Hennies

Am J Hum Genet. 2009 Oct 9; 85(4): 482–492. doi: 10.1016/j.ajhg.2009.09.005

PMCID:: PMC2756548

Article PDF–813K

Select item 360701319.

Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation

Na-Ryum Bin, Chang Hun Jung, Christopher Piggott, Shuzo Sugita

Proc Natl Acad Sci U S A. 2013 Mar 19; 110(12): 4610–4615. Published online 2013 Mar 4. doi: 10.1073/pnas.1214887110

PMCID:: PMC3607013

Article PDF–892K

Select item 122358420.

A role for Sec1/Munc18 proteins in platelet exocytosis.

Todd D Schraw, Paula P Lemons, William L Dean, Sidney W Whiteheart

Biochem J. 2003 Aug 15; 374(Pt 1): 207–217. doi: 10.1042/BJ20030610

PMCID:: PMC1223584

Summary PDF–486K

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