Associated Papers
SNAP-25 disease variants affect synaptic transmission by destabilizing SNARE complexes within a multimeric SNARE ring.
Vold VA et al.
Cell Reports, 2026
SNAP25 undergoes phase separation to facilitate the assembly of the synaptic vesicle fusion machinery.
Zhu M et al.
Cell Reports, 2026
SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons.
Østergaard M et al.
Brain : a Journal of Neurology, 2025
SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions.
Kádková A et al.
Elife, 2024
Genetic disorders of neurotransmitter release machinery.
Uzay B et al.
Frontiers in Synaptic Neuroscience, 2023
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.
Pugliese A et al.
Journal of Neuromuscular Diseases, 2023
Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.
Reynolds HM et al.
Cold Spring Harbor Molecular Case Studies, 2022
Energetics, kinetics, and pathways of SNARE assembly in membrane fusion.
Zhang Y et al.
Critical Reviews in Biochemistry and Molecular Biology, 2022
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
Chaperoning SNARE Folding and Assembly.
Zhang Y et al.
Annual Review of Biochemistry, 2021
Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle.
Bonnycastle K et al.
Journal of Neurochemistry, 2021
Disorders of synaptic vesicle fusion machinery.
Melland H et al.
Journal of Neurochemistry, 2021
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy.
Klöckner C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies.
Alten B et al.
Neuron, 2021
Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy.
Praschberger R et al.
Neuron, 2021
SNAP-25 Puts SNAREs at Center Stage in Metabolic Disease.
Irfan M et al.
Neuroscience, 2019
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes.
Rodríguez Cruz PM et al.
International Journal of Molecular Sciences, 2018
A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia.
Fukuda H et al.
Journal of Human Genetics, 2018
Two Disease-Causing SNAP-25B Mutations Selectively Impair SNARE C-terminal Assembly.
Rebane AA et al.
Journal of Molecular Biology, 2018
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
Munc18-1-regulated stage-wise SNARE assembly underlying synaptic exocytosis.
Ma L et al.
Elife, 2015
Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability.
Shen XM et al.
Neurology, 2014