STXBP1 Antibody

1. This analysis provides compelling evidence for DNA motif modulated mutagenesis in 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 coordination with a newly identified tomosyn1-interacting partner, the Ca(2+)-binding protein secretagogin. Secretagogin 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 observed in various neuronal ceroid lipofuscinoses (NCLs), including reduced STXBP1 in CLN1 disease brain. While post-mortem changes can be a confounding factor, this study provides a valuable starting point for identifying potential NCL biomarkers for further investigation. PMID: 28792770
4. Mutated STXBP1 gene is associated with early-onset Epileptic Encephalopathy and severe psychomotor development retardation that manifests within 3 months of age. PMID: 29718889
5. Mutations in STXBP1, encoding the syntaxin binding protein 1, can produce a phenotype similar to that observed with KCNQ2 mutations. PMID: 29067685
6. A 9q33.3q34.11 microdeletion encompassing the STXBP1 gene has been 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 exhibits a previously unreported mutation in STXBP1. This mutation is located within a donor splice site and eliminates exon 14, resulting in a truncated protein. PMID: 25631041
8. A cohort study analyzing STXBP1 in 42 patients with epileptic encephalopathy 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 the elderly. PMID: 26628003
10. Reduced expression of STXBP1 leads to changes in the expression and localization of syntaxin-1 in pluripotent stem cells derived from epileptic encephalopathy patients. PMID: 26918652
11. Seizure severity and intellectual disability were linked to STXBP1 encephalopathy patients. PMID: 26865513
12. De novo mutations in STXBP1 are implicated in early-onset epilepsy. PMID: 26514728
13. Partial STXBP1 loss of function significantly impairs neurotransmitter release in human neurons. This suggests that heterozygous STXBP1 mutations cause early epileptic encephalopathy specifically through a presynaptic impairment. PMID: 26280581
14. The case described suggests a potential link between Rett syndrome and the STXBP1 gene, a connection not previously established. This finding underscores the importance of considering STXBP1 gene mutations in patients with Rett syndrome and early-onset epilepsy. PMID: 25714420
15. A de novo mutation in STXBP1 was detected using exome sequencing along with profound impairment of complex I of the mitochondrial respiratory chain on muscle biopsy. These findings suggest a secondary impairment of mitochondrial function. PMID: 25418441
16. Epileptic encephalopathy is associated with mutations in the STXBP1 genes. PMID: 25818041
17. In vitro interaction assays indicated that Doc2b is essential for bridging 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 are 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 contribute significantly to Dravet syndrome. PMID: 24623842
22. This study describes 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. Genomic deletions in the STXBP1 gene are associated 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 crucial role in the dynamics of trans-SNARE complex assembly and/or stabilization, a process essential 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. Combining this study with previous findings, 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. This is the first case report demonstrating that STXBP1 mutations cause West syndrome from the onset of epilepsy. PMID: 21204804
30. Collectively, STXBP1 aberrations can account for approximately one-third of individuals with EIEE (14 of 43). These genetic and biological data clearly indicate that haploinsufficiency of STXBP1 is a significant cause of cryptogenic EIEE. PMID: 20887364
31. This review summarizes recent advancements and proposes an updated model of the pleiotropic functions of Munc18-1 in neuroexocytosis. 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, which exhibited elevated levels of protein carbonyls in the inferior parietal lobule (IPL) from subjects with mild cognitive impairment. PMID: 19686046
34. Describes the 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, critically determining the overall ENaC functionality/regulation under varying physiological conditions. PMID: 17200691
40. Proteomic assessments of membrane microdomains in the prefrontal cortex, along with validation in two brain series, strongly implicates LAMP, STXBP1, and BASP1 in schizophrenia 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