Associated Papers
Munc 18-1 is a multifaceted therapeutic target for dementia.
Singh KS et al.
Ageing Research Reviews, 2025
Disease-linked mutations in Munc18-1 deplete synaptic Doc2.
Guiberson NGL et al.
Brain : a Journal of Neurology, 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
Effects of the ketogenic diet therapy in patients with STXBP1-related encephalopathy.
Nam JY et al.
Epilepsy Research, 2022
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
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies?
Lanoue V et al.
Neurology, 2019
Mechanism-based rescue of Munc18-1 dysfunction in varied encephalopathies by chemical chaperones.
Guiberson NGL et al.
Nature Communications, 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
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1.
Suri M et al.
Molecular Genetics & Genomic Medicine, 2017
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
Stamberger H et al.
Neurology, 2016
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
Barcia G et al.
European Journal of Medical Genetics, 2014
[Association between sequence variation of Env, Gag genes from the same source and HIV-1 disease progression and host genetic polymorphism].
Bai LS et al.
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi = Zhonghua Shiyan He Linchuang Bingduxue Zazhi = Chinese Journal of Experimental and Clinical Virology, 2007