Associated Papers
Munc 18-1 is a multifaceted therapeutic target for dementia.
Singh KS et al.
Ageing Research Reviews, 2025
The co-chaperone DNAJA2 buffers proteasomal degradation of cytosolic proteins with missense mutations.
Baker HA et al.
Journal of Cell Science, 2025
Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
André T et al.
Biological Psychiatry, 2024
Functional analysis of epilepsy-linked pathogenic variants of the Munc18-1 gene in the inhibitory nervous system of Caenorhabditis elegans.
Gengyo-Ando K et al.
Micropublication Biology, 2024
Clinical variants in Caenorhabditis elegans expressing human STXBP1 reveal a novel class of pathogenic variants and classify variants of uncertain significance.
Hopkins CE et al.
Genetics in Medicine Open, 2023
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J et al.
Brain : a Journal of Neurology, 2022
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans.
Zhu B et al.
Epilepsia, 2020
p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus.
Li Y et al.
Frontiers in Cell and Developmental Biology, 2020
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.
Al Mehdi K et al.
Biomed Research International, 2019
Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones.
Guiberson NGL et al.
Nature Communications, 2018
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.
Kovacevic J et al.
Brain : a Journal of Neurology, 2018
MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development.
Hamada N et al.
Acta Neuropathologica Communications, 2017
Munc18-1 is a molecular chaperone for α-synuclein, controlling its self-replicating aggregation.
Chai YJ et al.
The Journal of Cell Biology, 2016
Beyond the SNARE: Munc18-1 chaperones α-synuclein.
Deshpande M et al.
The Journal of Cell Biology, 2016
Increased polyubiquitination and proteasomal degradation of a Munc18-1 disease-linked mutant causes temperature-sensitive defect in exocytosis.
Martin S et al.
Cell Reports, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
Carvill GL et al.
Neurology, 2014
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Barcia G et al.
European Journal of Medical Genetics, 2014
A novel STXBP1 mutation causes focal seizures with neonatal onset.
Vatta M et al.
Journal of Child Neurology, 2012
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
Mignot C et al.
Epilepsia, 2011
Intellectual disability without epilepsy associated with STXBP1 disruption.
Hamdan FF et al.
European Journal of Human Genetics : Ejhg, 2011
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
Saitsu H et al.
Epilepsia, 2010
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
Saitsu H et al.
Nature Genetics, 2008