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STXBP1 encodes a syntaxin-binding protein. Additionally we are shipping Syntaxin Binding Protein 1 Proteins (8) and many more products for this protein.
Showing 10 out of 114 products:
Human Monoclonal STXBP1 Primary Antibody for IF, IP - ABIN967910
Fisher, Pevsner, Burgoyne: Control of fusion pore dynamics during exocytosis by Munc18. in Science (New York, N.Y.) 2001
Show all 5 references for ABIN967910
Cow (Bovine) Polyclonal STXBP1 Primary Antibody for WB - ABIN318802
Chakarian, Durbin, Varekamp, Yarmoff: Formation of surface F centers on CaF2/Si(111). in Physical review. B, Condensed matter 1999
Chicken Polyclonal STXBP1 Primary Antibody for WB - ABIN2792301
Saitsu, Kato, Mizuguchi, Hamada, Osaka, Tohyama, Uruno, Kumada, Nishiyama, Nishimura, Okada, Yoshimura, Hirai, Kumada, Hayasaka, Fukuda, Ogata, Matsumoto: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. in Nature genetics 2008
Human Polyclonal STXBP1 Primary Antibody for IF, IHC - ABIN1532363
Swanson, Steel, Valle: Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. in Genomics 1998
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.
Reduced expression of STXBP1 leads to changes in the expression and localization of syntaxin-1 (show STX1A Antibodies) in pluripotent stem cells from epileptic encephalopathy patient.
Seizure severity and intellectual disability were connected to STXBP1 encephalopathy patients.
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 (show DOC2B Antibodies) is required to bridge the interaction between Munc18c (show STXBP3 Antibodies) and Munc18-1 in the macromolecular complex; Munc18c (show STXBP3 Antibodies) and Munc18-1 failed to associate in the absence of Doc2b (show DOC2B Antibodies)
STXBP1 gene mutation was found in 1 out of 11 patients
STXBP1 mutations associated with early epileptic encephalopathies.
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 (show VAMP2 Antibodies) mutations that impair Munc18-1 binding inhibit spontaneous as well as evoked neurotransmitter release, providing evidence for the Vamp2 (show VAMP2 Antibodies)-regulating function of Munc18-1 in synaptic exocytosis.
A dynamic PKC (show PKC Antibodies) phosphorylation/de-phosphorylation cycle of Munc18-1 drives short-term enhancement of transmitter release during post-tetanic potentiation.
miR (show MLXIP Antibodies)-218 and miR (show MLXIP Antibodies)-322 directly interact with Stxbp1 by targeting the 3'UTR (show UTS2R Antibodies) of its mRNA.
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 (show STX1A Antibodies) domains mediate different functions in synaptic vesicle fusion, probably via formation of distinct Munc18/SNARE (show VTI1B Antibodies)-protein complexes.
SNAREpin assembly by Munc18-1 requires previous vesicle docking by synaptotagmin 1 (show SYT1 Antibodies).
a novel indirect role for Munc18-1 in facilitating syntaxin 4 (show STX4 Antibodies)-mediated granule pre-docking to support first-phase insulin (show INS Antibodies) exocytosis.
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.
syntaxin binding protein 1
, Ras opposite
, syntaxin-binding protein 1-like
, protein unc-18 homolog 1
, protein unc-18 homolog A
, syntaxin-binding protein 1
, unc-18 homolog
, neuronal SEC1
, UNC-18 homolog
, minisatellite 10g detected by probe MMS10
, syntaxin 1-binding protein