Associated Papers
Munc 18-1 is a multifaceted therapeutic target for dementia.
Singh KS et al.
Ageing Research Reviews, 2025
Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
André T et al.
Biological Psychiatry, 2024
Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
Guiberson NGL et al.
Brain : a Journal of Neurology, 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
Expression and function of Caenorhabditis elegans UNCP-18, a paralog of the SM protein UNC-18.
Boeglin M et al.
Genetics, 2023
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
Clinical whole exome sequencing revealed de novo heterozygous stop-gain and missense variants in the STXBP1 gene associated with epilepsy in Saudi families.
Naseer MI et al.
Saudi Journal of Biological Sciences, 2022
Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J et al.
Brain : a Journal of Neurology, 2022
Clinical and technical assessment of MedExome vs. NGS panels in patients with suspected genetic disorders in Southwestern Ontario.
Aref-Eshghi E et al.
Journal of Human Genetics, 2021
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
Targeted stabilization of Munc18-1 function via pharmacological chaperones.
Abramov D et al.
Embo Molecular Medicine, 2021
Distinct genetic patterns of shared and unique genes across four neurodevelopmental disorders.
Zhang Y et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Inferring the molecular and phenotypic impact of amino acid variants with MutPred2.
Pejaver V et al.
Nature Communications, 2020
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
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
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations.
Zhu X et al.
Plos Genetics, 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
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