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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 (zeige KCNQ2 Proteine) mutations
9q33.3q34.11 microdeletion including STXBP1 gene identified in four patients with intellectual disability, epilepsy, nail (zeige CD244 Proteine) 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.
Reduced expression of STXBP1 leads to changes in the expression and localization of syntaxin-1 (zeige STX1A Proteine) 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.
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 (zeige VAMP2 Proteine) mutations that impair Munc18-1 binding inhibit spontaneous as well as evoked neurotransmitter release, providing evidence for the Vamp2 (zeige VAMP2 Proteine)-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.
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 (zeige STX1A Proteine) domains mediate different functions in synaptic vesicle fusion, probably via formation of distinct Munc18/SNARE (zeige VTI1B Proteine)-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