STXBP1 Antibody

1. This analysis provides strong evidence of DNA motif modulated mutagenesis for STXBP1 de novo splicing mutations. PMID: 29438995
2. Glucose-dependent de-SUMOylation of tomosyn1 at K298 releases syntaxin1A and controls the amplification of exocytosis in concert with a recently-identified tomosyn1-interacting partner; the Ca(2+)-binding protein secretagogin, which dissociates from tomosyn1 in response to Ca(2+)-raising stimuli and is required for insulin granule trafficking and exocytosis downstream of Ca(2+) influx. PMID: 28325894
3. Significant alterations in protein expression were identified in each neuronal ceroid lipofuscinoses (NCLs), including reduced STXBP1 in CLN1 disease brain. Given the confounding variable of post-mortem changes, additional validation is required, but this study provides a useful starting set of candidate NCL biomarkers for further evaluation. PMID: 28792770
4. Mutated STXBP1 gene associated with early-onset Epileptic Encephalopathy and severe psychomotor development retardation that occurs within 3 months of age. PMID: 29718889
5. Mutations in STXBP1 encoding the syntaxin binding protein 1 can produce a phenotype similar to that of KCNQ2 mutations PMID: 29067685
6. 9q33.3q34.11 microdeletion including STXBP1 gene identified in four patients with intellectual disability, epilepsy, nail dysplasia and bone malformations. PMID: 26395556
7. We report the case of a 19-month-old child with Ohtahara syndrome who displays a previously unreported mutation in STXBP1 This mutation is located in a donor splice site and eliminates exon 14, resulting in a truncated protein PMID: 25631041
8. We conducted a cohort study to analyze STXBP1 in 42 patients with epileptic encephalopathy. We identified four novel mutations: two splicing mutations, a frameshift mutation, and a nonsense mutation. PMID: 26384463
9. M18L was localized to presynaptic inhibitory terminals, and was associated with cognitive function and protection from dementia in an elderly PMID: 26628003
10. Reduced expression of STXBP1 leads to changes in the expression and localization of syntaxin-1 in pluripotent stem cells from epileptic encephalopathy patient. PMID: 26918652
11. Seizure severity and intellectual disability were connected to STXBP1 encephalopathy patients. PMID: 26865513
12. de novo mutations in early-onset epilepsy PMID: 26514728
13. partial STXBP1 loss of function robustly impairs neurotransmitter release in human neurons, and suggest that heterozygous STXBP1 mutations cause early epileptic encephalopathy specifically through a presynaptic impairment. PMID: 26280581
14. The case described suggests a relationship between the Rett syndrome and the STXBP1 gene not described so far, making the search for STXBP1 gene mutations advisable in patients with Rett syndrome and early onset of epilepsy. PMID: 25714420
15. A de novo mutation in STXBP1 was detected with exome sequencing together with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. Findings implicate a secondary impairment of mitochondrial function. PMID: 25418441
16. Epileptic encephalopathy related to mutations in the STXBP1 genes. PMID: 25818041
17. In vitro interaction assays indicated that Doc2b is required to bridge the interaction between Munc18c and Munc18-1 in the macromolecular complex; Munc18c and Munc18-1 failed to associate in the absence of Doc2b PMID: 25190515
18. STXBP1 gene mutation was found in 1 out of 11 patients PMID: 25008876
19. STXBP1 mutations associated with early epileptic encephalopathies. PMID: 24189369
20. Recruitment of STXBP1 by the Rab27A effector SYTL4 promotes Weibel-Palade body exocytosis. PMID: 24700782
21. GABRA1 and STXBP1 make a significant contribution to Dravet syndrome PMID: 24623842
22. this study described the clinical features of six new patients with an STXBP1 encephalopathy presenting as Ohtahara syndrome (2/6, 33%), West syndrome (1/65, 2%), and nonsyndromic early onset EE (3/64, 5%). PMID: 23409955
23. Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. PMID: 22211739
24. 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. PMID: 23487749
25. Munc18-1 plays a key role in the dynamics of trans-SNARE complex assembly and/or stabilization, a process that is necessary for the docking of the outer acrosomal membrane to the plasma membrane and subsequent fusion pore opening. PMID: 23091057
26. mutation resulting in encephalopathy presenting as infantile spasms and generalized tremor PMID: 21762454
27. mutations found in early onset epileptic encephalopathy and Ohtahara syndrome PMID: 21770924
28. By combining this and previous study, 3 de novo truncating STXBP1 mutations in 145 sporadic non-syndromic intellectual disability (NSID) cases (~2%)have been identified. PMID: 21364700
29. two de novo nucleotide alterations of STXBP1 were identified in two patients with Ohtahara and West syndrome, respectively; first case report showing that STXBP1 mutations caused West syndrome from the onset of epilepsy PMID: 21204804
30. Collectively, STXBP1 aberrations can account for about one-third individuals with EIEE (14 of 43). These genetic and biologic data clearly showed that haploinsufficiency of STXBP1 is the important cause for cryptogenic EIEE. PMID: 20887364
31. we summarize these recent advances and attempt to propose an updated model of the pleiotropic functions of Munc18-1 in neuroexocytosis--{REVIEW} PMID: 20681955
32. STXBP1 mutational analysis should be considered in the diagnostic evaluation of this challenging group of patients. PMID: 20876469
33. Results identified syntaxin binding protein I that showed elevated levels of protein carbonyls in inferior parietal lobule (IPL) from subjects with mild cognitive impairment. PMID: 19686046
34. Describes cloning of mouse and human homologs of C. elegans UNC-18. PMID: 8824310
35. Munc18a acts through direct and indirect interactions with X11 proteins and powerfully regulates APP metabolism and Abeta secretion. PMID: 12016213
36. Ser-313, a Munc18-1 protein kinase C phosphorylation site, and Thr-574, a cyclin-dependent kinase 5 phosphorylation site, regulate Munc18-1/syntaxin1A interaction in HEK293-S3 and chromaffin cells PMID: 15489225
37. MUNC18-1 regulates early and late stages of exocytosis via syntaxin-independent protein interactions. PMID: 15563604
38. Mediates exocytosis and decreases beta-amyloid peptide formation in Alzheimer disease. PMID: 16413130
39. syntaxin1A possesses distinct inhibitory and stimulatory domains that interact with ENaC subunits, which critically determines the overall ENaC functionality/regulation under distinct physiological conditions PMID: 17200691
40. proteomic assessments of membrane microdomains in prefrontal cortex and validation in two brain series, strongly implicates LAMP, STXBP1 and BASP1 in schizophreina and supports the view of a neuritic and synaptic dysfunction in the neuropathology PMID: 18268500
41. De novo mutations in the gene encoding STXBP1 cause early infantile epileptic encephalopathy. PMID: 18469812
42. Syntaxin 1 interaction with the dopamine transporter promotes amphetamine-induced dopamine efflux. PMID: 18617632

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HGNC: 11444

OMIM: 602926

KEGG: hsa:6812

STRING: 9606.ENSP00000362399

UniGene: Hs.288229