| Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis. | Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis.
Xinh PT, Chuong HQ, Diem TPH, Nguyen TM, Van ND, Mai Anh NH, Nghia H, Vu HA. | 02/12/2022 |
| 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. | 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.
Benavides N, Spessott WA, Sanmillan ML, Vargas M, Livingston MS, Erickson N, Pozos TC, McCormick ME, Scharrig E, Messinger YH, Giraudo CG., Free PMC Article | 05/15/2021 |
| Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations. | Different Clinical Presentation of 3 Children With Familial Hemophagocytic Lymphohistiocytosis With 2 Novel Mutations.
Akyol S, Ozcan A, Sekine T, Chiang SCC, Yilmaz E, Karakurkcu M, Patiroglu T, Bryceson Y, Unal E. | 01/2/2021 |
| In the current study, we have made the unexpected observation that congenital deficiency of the STXBP2 protein may also affect the expression of STXBP1. Further analysis identified an unsuspected functional role for STXBP1 in secretory granule-mediated NK and T-cell cytotoxicity. | Bi-Allelic Mutations in STXBP2 Reveal a Complementary Role for STXBP1 in Cytotoxic Lymphocyte Killing.
Lopez JA, Noori T, Minson A, Li Jovanoska L, Thia K, Hildebrand MS, Akhlaghi H, Darcy PK, Kershaw MH, Brown NJ, Grigg A, Trapani JA, Voskoboinik I., Free PMC Article | 05/11/2019 |
| Loss of Munc18-2/Stxbp2 recapitulated the pathologic features observed in patients with MUNC18-2 deficiency. | Dynamic Formation of Microvillus Inclusions During Enterocyte Differentiation in Munc18-2-Deficient Intestinal Organoids.
Mosa MH, Nicolle O, Maschalidi S, Sepulveda FE, Bidaud-Meynard A, Menche C, Michels BE, Michaux G, de Saint Basile G, Farin HF., Free PMC Article | 05/4/2019 |
| Neonatal platelets exhibit low levels of the Stx11-Munc18b complex (essential component of the SNARE machinery) and of beta1-tubulin. These developmental deficiencies are associated with defects in platelet adhesion, spreading and secretion. | Down Regulation of the Munc18b-syntaxin-11 Complex and β1-tubulin Impairs Secretion and Spreading in Neonatal Platelets.
Caparrós-Pérez E, Teruel-Montoya R, Palma-Barquero V, Torregrosa JM, Blanco JE, Delgado JL, Lozano ML, Vicente V, Sola-Visner M, Rivera J, Martínez C, Ferrer-Marín F. | 08/11/2018 |
| Among these nine polymorphisms, rs188212047 [G/T (L212F)] of STXBP2 was significantly (dominant model; P = 4.84 x 10-8; odds ratio, 2.94) associated with myocardial infarction. STXBP2 may thus be a novel susceptibility locus for myocardial infarction in Japanese. | Identification of STXBP2 as a novel susceptibility locus for myocardial infarction in Japanese individuals by an exome-wide association study.
Yamada Y, Sakuma J, Takeuchi I, Yasukochi Y, Kato K, Oguri M, Fujimaki T, Horibe H, Muramatsu M, Sawabe M, Fujiwara Y, Taniguchi Y, Obuchi S, Kawai H, Shinkai S, Mori S, Arai T, Tanaka M., Free PMC Article | 03/10/2018 |
| STXBP2 Gene Polymorphism is associated with Hemophagocytic Lymphohistocytosis. | Hemophagocytic Lymphohistocytosis in the Chinese Han Population May Be Associated with an STXBP2 Gene Polymorphism.
Yang L, Tang Y, Xiao F, Xiong J, Shen K, Liu Y, Zhang W, Zheng L, Zhou J, Xiao M., Free PMC Article | 07/29/2017 |
| Mutation in STXBP2 gene is associated with hemophagocytic lymphohistiocytosis. | Clinical presentation and outcome of pediatric patients with hemophagocytic lymphohistiocytosis in China: A retrospective multicenter study.
Xu XJ, Wang HS, Ju XL, Xiao PF, Xiao Y, Xue HM, Shi HY, Gao YJ, Jia GC, Li XR, Zhao WH, Wang NL, Tang YM, Histiocytosis Study Group of the Chinese Pediatric Society. | 07/22/2017 |
| Data show that Munc18b overexpression increased fusion of not only newcomer secretory granule (SG), but also predocked SGs in type-2 diabetes (T2D) human and Goto-Kakizaki Rat Islets. | Munc18b Increases Insulin Granule Fusion, Restoring Deficient Insulin Secretion in Type-2 Diabetes Human and Goto-Kakizaki Rat Islets with Improvement in Glucose Homeostasis.
Qin T, Liang T, Zhu D, Kang Y, Xie L, Dolai S, Sugita S, Takahashi N, Ostenson CG, Banks K, Gaisano HY., Free PMC Article | 03/25/2017 |
| two novel mutations of STXBP2: c.184A>G and c.577A>C. c.184A>G (p.Asn62Asp) was located within a highly conserved region of the STXBP2 protein and predicted to be deleterious. | Prevalence of type 5 familial hemophagocytic lymphohistiocytosis in Korea and novel mutations in STXBP2.
Seo JY, Lee KO, Yoo KH, Sung KW, Koo HH, Kim SH, Kang HJ, Park KD, Shin HY, Baek HJ, Kook H, Lyu CJ, Song JS, Lee MJ, Kim JY, Lim YT, Koh KN, Im HJ, Seo JJ, Kim HJ, Korea Histiocytosis Working Party. | 10/22/2016 |
| mutations result in severe chronic active Epstein-Barr virus disease | Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).
Cohen JI, Niemela JE, Stoddard JL, Pittaluga S, Heslop H, Jaffe ES, Dowdell K., Free PMC Article | 07/2/2016 |
| red blood cells express Munc18-2 and that erythroid cells from patients with FHL-5 exhibit intrinsic defects caused by STXBP2/Munc18-2 mutations. | Intrinsic defects in erythroid cells from familial hemophagocytic lymphohistiocytosis type 5 patients identify a role for STXBP2/Munc18-2 in erythropoiesis and phospholipid scrambling.
Kostova EB, Beuger BM, Veldthuis M, van der Werff Ten Bosch J, Kühnle I, van den Akker E, van den Berg TK, van Zwieten R, van Bruggen R. | 03/19/2016 |
| Munc18-2(R65Q) and Munc18-2(R65W) retain the ability to interact with and stabilize STX11. However, presence of Munc18-2(R65Q/W) in patient-derived lymphocytes and forced expression in control CTLs and NK cells diminishes degranulation and cytotoxicity. | Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.
Spessott WA, Sanmillan ML, McCormick ME, Patel N, Villanueva J, Zhang K, Nichols KE, Giraudo CG., Free PMC Article | 05/2/2015 |
| Data show that all but one patient with atypical familial hemophagocytic lymphohistiocytosis carried at least one splice-site mutation in UNC13D or STXBP2. | Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases.
Rohr J, Beutel K, Maul-Pavicic A, Vraetz T, Thiel J, Warnatz K, Bondzio I, Gross-Wieltsch U, Schündeln M, Schütz B, Woessmann W, Groll AH, Strahm B, Pagel J, Speckmann C, Janka G, Griffiths G, Schwarz K, zur Stadt U, Ehl S., Free PMC Article | 05/10/2014 |
| Munc18-2 binds the N-terminal peptide of Stx11 with a ~20-fold higher affinity than Stx3, suggesting a potential role in selective binding. | Syntaxin binding mechanism and disease-causing mutations in Munc18-2.
Hackmann Y, Graham SC, Ehl S, Höning S, Lehmberg K, Aricò M, Owen DJ, Griffiths GM., Free PMC Article | 01/25/2014 |
| We report that FHL-5 neutrophils have a profound defect in granule mobilization, resulting in inadequate bacterial killing, in particular, of gram-negative Escherichia coli, but not of Staphylococcus aureus. | Defects in neutrophil granule mobilization and bactericidal activity in familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) syndrome caused by STXBP2/Munc18-2 mutations.
Zhao XW, Gazendam RP, Drewniak A, van Houdt M, Tool AT, van Hamme JL, Kustiawan I, Meijer AB, Janssen H, Russell DG, van de Corput L, Tesselaar K, Boelens JJ, Kuhnle I, Van Der Werff Ten Bosch J, Kuijpers TW, van den Berg TK. | 09/14/2013 |
| Mutations in STXBP2 do not only affect cytotoxic T lymphocytes but also cause changes in the intestinal and renal epithelium resulting in severe, osmotic diarrhea and renal proximal tubular dysfunction | Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due to STXBP2/MUNC18-2 mutations.
Stepensky P, Bartram J, Barth TF, Lehmberg K, Walther P, Amann K, Philips AD, Beringer O, Zur Stadt U, Schulz A, Amrolia P, Weintraub M, Debatin KM, Hoenig M, Posovszky C. | 07/27/2013 |
| Double knockdown of Munc18-1 and Munc18-2 in mast cells eliminates both IgE-dependent and ionomycin-induced degranulation and causes a significant reduction in syntaxin-11 without altering expressions of the other syntaxin isoforms examined. | Crucial role of the hydrophobic pocket region of Munc18 protein in mast cell degranulation.
Bin NR, Jung CH, Piggott C, Sugita S., Free PMC Article | 05/25/2013 |
| Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity in familial hemophagocytic lymphohistiocytosis. | Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity.
Saltzman RW, Monaco-Shawver L, Zhang K, Sullivan KE, Filipovich AH, Orange JS., Free PMC Article | 01/26/2013 |
| We report the largest cohort of patients with FHL5 so far, describe an extended disease spectrum, and demonstrate for the first time a clear genotype-phenotype correlation. | Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5).
Pagel J, Beutel K, Lehmberg K, Koch F, Maul-Pavicic A, Rohlfs AK, Al-Jefri A, Beier R, Bomme Ousager L, Ehlert K, Gross-Wieltsch U, Jorch N, Kremens B, Pekrun A, Sparber-Sauer M, Mejstrikova E, Wawer A, Ehl S, zur Stadt U, Janka G. | 09/15/2012 |
| Munc18b is functionally coupled to the assembly of exocytic SNARE complexes and increases exocytosis by interacting with the N-peptide and closed-conformation C-terminus of Stx3, thereby neutralizing the secretion-inhibitory effect of this SNARE. | Munc18b regulates core SNARE complex assembly and constitutive exocytosis by interacting with the N-peptide and the closed-conformation C-terminus of syntaxin 3.
Peng RW, Guetg C, Abellan E, Fussenegger M. | 02/3/2012 |
| Missense and splice-site sequence variants in PRF1, MUNC13-4, and STXBP2 were found in 25 (14%) of the adult patients. The A91V-PRF1 genotype was found in 12 of these patients (48%). | Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial HLH.
Zhang K, Jordan MB, Marsh RA, Johnson JA, Kissell D, Meller J, Villanueva J, Risma KA, Wei Q, Klein PS, Filipovich AH., Free PMC Article | 01/28/2012 |
| Data show that 3 novel mutations of STXBP2 gene were confirmed. | Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.
Nagai K, Yamamoto K, Fujiwara H, An J, Ochi T, Suemori K, Yasumi T, Tauchi H, Koh K, Sato M, Morimoto A, Heike T, Ishii E, Yasukawa M., Free PMC Article | 04/30/2011 |
| Biallelic STXBP2 mutations were identified in families with familial haemophagocytic lymphohistiocytosis. | STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.
Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Aricò M., Free PMC Article | 01/1/2011 |