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Assisted by NSF/alpha-SNAP, syntaxin-1 escapes tomosyn arrest and assembles into the Munc18-1/syntaxin-1 complex. Munc13-1 then catalyzes the transit of syntaxin-1 from the Munc18-1/syntaxin-1 complex to the SNARE complex
5 novel mutations of STXBP1 were identified and predicted to be pathogenic. Three mutations (1 in the splice-site and 2 frameshift mutations caused by a single base-pair deletion and insertion, respectively) were predicted to cause loss-of-function. The patients with the 5 novel mutations all presented with early onset seizures and developmental delay
This analysis provides strong evidence of DNA motif modulated mutagenesis for STXBP1 de novo splicing mutations.
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.
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.
Mutated STXBP1 gene associated with early-onset Epileptic Encephalopathy and severe psychomotor development retardation that occurs within 3 months of age.
Mutations in STXBP1 encoding the syntaxin binding protein 1 can produce a phenotype similar to that of KCNQ2 mutations
9q33.3q34.11 microdeletion including STXBP1 gene identified in four patients with intellectual disability, epilepsy, nail dysplasia and bone malformations.
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
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.
M18L was localized to presynaptic inhibitory terminals, and was associated with cognitive function and protection from dementia in an elderly
Reduced expression of STXBP1 leads to changes in the expression and localization of syntaxin-1 in pluripotent stem cells from epileptic encephalopathy patient.
Seizure severity and intellectual disability were connected to STXBP1 encephalopathy patients.
de novo mutations in early-onset epilepsy
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.
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.
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.
Epileptic encephalopathy related to mutations in the STXBP1 genes.
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
STXBP1 gene mutation was found in 1 out of 11 patients
Study shows that Munc18-1 is more efficiently captured by SNAP-25b than SNAP-25a.
that reduced munc18-1 levels are sufficient to impair learning and memory by reducing neurotransmitter release
observed an almost complete absence of exocytosis in Munc18-2-deficient MCs but intact exocytosis in MCs lacking Munc18-1 or Munc18-3
Data show that least five disease-linked missense mutations of syntaxin binding protein Munc18 (Munc18-1) result in destabilization and aggregation of the mutant protein.
Munc13-1 and Munc18-1, but not CAPS-1/2, stabilize primed synaptic vesicles by preventing NSF-dependent de-priming.
SFK-dependent Munc18-1 phosphorylation may constitute a potent, previously unknown mechanism to shut down synaptic transmission, via direct occlusion of a Synaptobrevin/VAMP2 binding groove and subsequent hindrance of conformational changes in domain 3a responsible for vesicle priming.
This study demonstrated that the disruption of Munc18-1 function may result in the abnormal corticogenesis, leading to neurodevelopmental disorders with MUNC18-1 gene abnormalities.
Findings suggest that synaptic impairments of the dorsal telencephalic and subcortical excitatory neurons cause learning deficits and enhanced aggression in Stxbp1+/- mice, respectively.
proteins, such as syntaxin-1, Munc18-1, or SNAP-25, modulate alpha-synuclein neuropathy and/or are dysregulated in Alzheimer's disease, understanding this type of neurodegeneration may provide new links between synaptic defects and neurodegeneration in humans
This results of study concluded that a conformational change within helix 12 is responsible for the essential postdocking role of Munc18-1 in neurosecretion.
In this studying the Munc18-1-/- nervous system, we demonstrate that synaptic activity is dispensable for the early formation of spinal motor circuits at the levels of axon guidance, differentiation of transcriptional identity, and mRNA expression.
Vamp2 mutations that impair Munc18-1 binding inhibit spontaneous as well as evoked neurotransmitter release, providing evidence for the Vamp2-regulating function of Munc18-1 in synaptic exocytosis.
A dynamic PKC phosphorylation/de-phosphorylation cycle of Munc18-1 drives short-term enhancement of transmitter release during post-tetanic potentiation.
miR-218 and miR-322 directly interact with Stxbp1 by targeting the 3'UTR of its mRNA.
Heart rate results indicate enhanced conditioned fear in munc-18-1HZ mice
Munc18-1 levels correlate with synaptic strength.
Syntaxin binding protein 1 is not required for allergic inflammation via IgE-mediated mast cell activation.
[review] Regulation of cortical F-actin is a shared function of Sec1/Munc18-like proteins; a way to gain more insight in the molecular mechanism underlying the Munc18-1-mediated cortical F-actin regulation is proposed.
The N-terminal syntaxin-1 domains mediate different functions in synaptic vesicle fusion, probably via formation of distinct Munc18/SNARE-protein complexes.
Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.
This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described.
, neuronal SEC1
, protein unc-18 homolog 1
, protein unc-18 homolog A
, syntaxin-binding protein 1
, UNC-18 homolog
, minisatellite 10g detected by probe MMS10
, unc-18 homolog
, syntaxin 1-binding protein
, syntaxin binding protein 1
, Ras opposite
, syntaxin-binding protein 1-like