Associated Papers
Regulation of spontaneous neurotransmission and homeostatic synaptic plasticity by synaptotagmin-1 disease variants at the SNARE primary interface.
Bagatelas ED et al.
Biorxiv : the Preprint Server for Biology, 2026
Synaptobrevin-2 disease variants reveal spatial constraints within the presynaptic active zone.
Guzikowski NJ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
SNAP25 variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons.
Østergaard M et al.
Brain : a Journal of Neurology, 2025
Neurotransmitter release is triggered by a calcium-induced rearrangement in the Synaptotagmin-1/SNARE complex primary interface.
Toulmé E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions.
Kádková A et al.
Elife, 2024
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
Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.
Spoto G et al.
Frontiers in Neurology, 2022
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
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
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017