{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T17:18:22Z","timestamp":1783358302088,"version":"3.54.6"},"reference-count":68,"publisher":"Oxford University Press (OUP)","issue":"9","license":[{"start":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T00:00:00Z","timestamp":1743724800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100003554","name":"Lundbeck Foundation","doi-asserted-by":"publisher","award":["R277-2018-802"],"award-info":[{"award-number":["R277-2018-802"]}],"id":[{"id":"10.13039\/501100003554","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100009708","name":"Novo Nordisk Foundation","doi-asserted-by":"publisher","award":["NNF22OC0080675"],"award-info":[{"award-number":["NNF22OC0080675"]}],"id":[{"id":"10.13039\/501100009708","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>SNAREopathies constitute a group of severe genetic neurodevelopmental disorders caused by de novo variants that disturb the synaptic release machinery. These neurodevelopmental disorders comprise highly diverse clinical phenotypes, usually including developmental delay, epilepsy, intellectual disability and sometimes autism spectrum disorder. Despite major progress in genetic testing, current treatments are limited to symptom-directed therapies. There is an urgent need to establish human experimental systems that improve translatability and help develop personalized mechanism-based treatment strategies.<\/jats:p>\n               <jats:p>Here, we generated CRISPR\/Cas9-engineered human-induced pluripotent stem-cell (hiPSC) lines carrying the pathogenic variant I67N in the SNAREopathy gene SNAP25. Using fast forward NGN2 (NEUROG2)-dependent programming into forebrain glutamatergic neurons, we examined synaptic phenotypes using electrophysiology and immunostaining, as well as protein changes by means of proteomics.<\/jats:p>\n               <jats:p>The variant did not affect passive or active electrical properties, but caused changes in synaptic transmission, including reduced evoked and spontaneous release, decreased synaptic vesicle release probability and consequential changes in short-term plasticity towards facilitation. These phenotypes were distinct from those of human neurons differentiated from hiPSCs originating from a patient carrying the V48F variant, which displayed an increase in spontaneous release. The I67N variant phenotype could be ameliorated by the clinically approved K+-channel blocker 4-aminopyridine. Proteomic analysis of hiPSC-derived neurons revealed a significant enrichment in downregulated synaptic proteins (e.g. CALB1, SCN2A, LRRC4B, PPFIA2).<\/jats:p>\n               <jats:p>Our study demonstrates the use of hiPSC-based models of neurodevelopmental disorders to identify disease mechanisms and to suggest personalized treatment options directly targeting specific synaptic defects.<\/jats:p>","DOI":"10.1093\/brain\/awaf119","type":"journal-article","created":{"date-parts":[[2025,4,4]],"date-time":"2025-04-04T05:00:30Z","timestamp":1743742830000},"page":"3300-3313","source":"Crossref","is-referenced-by-count":4,"title":["<i>SNAP25<\/i> variant I67N: synaptic phenotypes, drug response and proteome changes in human neurons"],"prefix":"10.1093","volume":"148","author":[{"given":"Maiken","family":"\u00d8stergaard","sequence":"first","affiliation":[{"name":"Department of Neuroscience, University of Copenhagen , Copenhagen N 2200 ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Barbagallo","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Copenhagen , Copenhagen N 2200 ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henriette Reventlow S","family":"Frederiksen","sequence":"additional","affiliation":[{"name":"Department of Veterinary and Animal Sciences, University of Copenhagen , 1870 Frederiksberg C ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Boston Children\u2019s Hospital and Harvard Medical School , Boston, MA 02115 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9664-1448","authenticated-orcid":false,"given":"Rikke S","family":"M\u00f8ller","sequence":"additional","affiliation":[{"name":"Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre , Filadelfia, Dianalund 4293 ,","place":["Denmark"]},{"name":"Department for Regional Health Research, University of Southern Denmark , Odense 5230 ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin R\u00f8ssel","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, University of Southern Denmark , Odense 5230 ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9480-2386","authenticated-orcid":false,"given":"Kristine","family":"Freude","sequence":"additional","affiliation":[{"name":"Department of Veterinary and Animal Sciences, University of Copenhagen , 1870 Frederiksberg C ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6085-7503","authenticated-orcid":false,"given":"Matthijs","family":"Verhage","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience, Vrije Universiteit Medical Center , HV Amsterdam 1081 ,","place":["The Netherlands"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5465-3769","authenticated-orcid":false,"given":"Jakob Balslev","family":"S\u00f8rensen","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, University of Copenhagen , Copenhagen N 2200 ,","place":["Denmark"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,4,4]]},"reference":[{"key":"2025090219580935600_awaf119-B1","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1038\/s41436-020-01020-w","article-title":"De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy","volume":"23","author":"Kl\u00f6ckner","year":"2021","journal-title":"Genet Med"},{"key":"2025090219580935600_awaf119-B2","doi-asserted-by":"crossref","first-page":"1099","DOI":"10.1093\/brain\/awaa051","article-title":"A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants","volume":"143","author":"L\u00f3pez-Rivera","year":"2020","journal-title":"Brain"},{"key":"2025090219580935600_awaf119-B3","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.neuron.2020.05.036","article-title":"SNAREopathies: Diversity in mechanisms and symptoms","volume":"107","author":"Verhage","year":"2020","journal-title":"Neuron"},{"key":"2025090219580935600_awaf119-B4","doi-asserted-by":"crossref","first-page":"50","DOI":"10.1016\/j.neuroscience.2018.09.020","article-title":"The SNAP-25 protein family","volume":"420","author":"K\u00e1dkov\u00e1","year":"2019","journal-title":"Neuroscience"},{"key":"2025090219580935600_awaf119-B5","doi-asserted-by":"crossref","first-page":"318","DOI":"10.1038\/362318a0","article-title":"SNAP receptors implicated in vesicle targeting and fusion","volume":"362","author":"Sollner","year":"1993","journal-title":"Nature"},{"key":"2025090219580935600_awaf119-B6","doi-asserted-by":"crossref","first-page":"9380","DOI":"10.1523\/JNEUROSCI.5092-06.2007","article-title":"Differential abilities of SNAP-25 homologs to support neuronal function","volume":"27","author":"Delgado-Martinez","year":"2007","journal-title":"J Neurosci"},{"key":"2025090219580935600_awaf119-B7","doi-asserted-by":"crossref","first-page":"1715","DOI":"10.1042\/BST20231333","article-title":"Exploring the structural dynamics of the vesicle priming machinery","volume":"52","author":"An","year":"2024","journal-title":"Biochem Soc Trans"},{"key":"2025090219580935600_awaf119-B8","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/S0092-8674(03)00477-X","article-title":"Differential control of the releasable vesicle pools by SNAP-25 splice variants and SNAP-23","volume":"114","author":"Sorensen","year":"2003","journal-title":"Cell"},{"key":"2025090219580935600_awaf119-B9","doi-asserted-by":"crossref","first-page":"1877","DOI":"10.1242\/jcs.201889","article-title":"SNAP-25 gene family members differentially support secretory vesicle fusion","volume":"130","author":"Arora","year":"2017","journal-title":"J Cell Sci"},{"key":"2025090219580935600_awaf119-B10","doi-asserted-by":"crossref","first-page":"107110","DOI":"10.1016\/j.toxicon.2023.107110","article-title":"Botulinum neurotoxin A modulates the axonal release of pathological tau in hippocampal neurons","volume":"228","author":"Panzi","year":"2023","journal-title":"Toxicon"},{"key":"2025090219580935600_awaf119-B11","doi-asserted-by":"crossref","first-page":"12696","DOI":"10.1002\/anie.201406359","article-title":"The molecular machinery of neurotransmitter release (Nobel lecture)","volume":"53","author":"Sudhof","year":"2014","journal-title":"Angew Chem Int Ed Engl"},{"key":"2025090219580935600_awaf119-B12","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1146\/annurev-biophys-070816-034117","article-title":"Molecular mechanisms of fast neurotransmitter release","volume":"47","author":"Brunger","year":"2018","journal-title":"Annu Rev Biophys"},{"key":"2025090219580935600_awaf119-B13","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1016\/j.neuron.2017.07.004","article-title":"Molecular mechanisms of synaptic vesicle priming by Munc13 and Munc18","volume":"95","author":"Lai","year":"2017","journal-title":"Neuron"},{"key":"2025090219580935600_awaf119-B14","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1038\/nsmb.2047","article-title":"Munc13 mediates the transition from the closed syntaxin\u2013Munc18 complex to the SNARE complex","volume":"18","author":"Ma","year":"2011","journal-title":"Nat Struct Mol Biol"},{"key":"2025090219580935600_awaf119-B15","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1126\/science.1230473","article-title":"Reconstitution of the vital functions of Munc18 and Munc13 in neurotransmitter release","volume":"339","author":"Ma","year":"2013","journal-title":"Science"},{"key":"2025090219580935600_awaf119-B16","doi-asserted-by":"crossref","first-page":"e41771","DOI":"10.7554\/eLife.41771","article-title":"Munc18-1 catalyzes neuronal SNARE assembly by templating SNARE association","volume":"7:","author":"Jiao","year":"2018","journal-title":"Elife"},{"key":"2025090219580935600_awaf119-B17","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1038\/s41467-018-08028-6","article-title":"Munc18 and Munc13 serve as a functional template to orchestrate neuronal SNARE complex assembly","volume":"10","author":"Wang","year":"2019","journal-title":"Nat Commun"},{"key":"2025090219580935600_awaf119-B18","first-page":"203","article-title":"Functional roles of UNC-13\/Munc13 and UNC-18\/Munc18 in neurotransmission","volume":"33","author":"Meunier","year":"2023","journal-title":"Adv Neurobiol. 2023"},{"key":"2025090219580935600_awaf119-B19","doi-asserted-by":"crossref","first-page":"6881","DOI":"10.1523\/JNEUROSCI.0007-16.2016","article-title":"Extension of helix 12 in Munc18-1 induces vesicle priming","volume":"36","author":"Munch","year":"2016","journal-title":"J Neurosci"},{"key":"2025090219580935600_awaf119-B20","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1038\/35065004","article-title":"Synaptotagmin I functions as a calcium regulator of release probability","volume":"410","author":"Fernandez-Chacon","year":"2001","journal-title":"Nature"},{"key":"2025090219580935600_awaf119-B21","doi-asserted-by":"crossref","first-page":"e57154","DOI":"10.7554\/eLife.57154","article-title":"Ca2+-dependent release of synaptotagmin-1 from the SNARE complex on phosphatidylinositol 4,5-bisphosphate-containing membranes","volume":"9","author":"Voleti","year":"2020","journal-title":"Elife"},{"key":"2025090219580935600_awaf119-B22","doi-asserted-by":"crossref","first-page":"4076","DOI":"10.1038\/s41467-019-12015-w","article-title":"Synaptotagmin 1 clamps synaptic vesicle fusion in mammalian neurons independent of complexin","volume":"10","author":"Courtney","year":"2019","journal-title":"Nat Commun"},{"key":"2025090219580935600_awaf119-B23","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.sbi.2019.03.007","article-title":"The pre-synaptic fusion machinery","volume":"54","author":"Brunger","year":"2019","journal-title":"Curr Opin Struct Biol"},{"key":"2025090219580935600_awaf119-B24","doi-asserted-by":"crossref","first-page":"RP88619","DOI":"10.7554\/eLife.88619.3","article-title":"SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions","volume":"12","author":"K\u00e1dkov\u00e1","year":"2024","journal-title":"Elife"},{"key":"2025090219580935600_awaf119-B25","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.neuron.2020.10.012","article-title":"Role of aberrant spontaneous neurotransmission in SNAP25-associated encephalopathies","volume":"109","author":"Alten","year":"2021","journal-title":"Neuron"},{"key":"2025090219580935600_awaf119-B26","doi-asserted-by":"crossref","first-page":"2247","DOI":"10.1212\/WNL.0000000000001079","article-title":"Mutant SNAP25B causes myasthenia, cortical hyperexcitability, ataxia, and intellectual disability","volume":"83","author":"Shen","year":"2014","journal-title":"Neurology"},{"key":"2025090219580935600_awaf119-B27","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.jmb.2017.10.012","article-title":"Two disease-causing SNAP-25B mutations selectively impair SNARE C-terminal assembly","volume":"430","author":"Rebane","year":"2018","journal-title":"J Mol Biol"},{"key":"2025090219580935600_awaf119-B28","doi-asserted-by":"crossref","first-page":"1327","DOI":"10.1038\/ng.3130","article-title":"Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes","volume":"46","author":"Schubert","year":"2014","journal-title":"Nat Genet"},{"key":"2025090219580935600_awaf119-B29","doi-asserted-by":"crossref","first-page":"2119","DOI":"10.1093\/brain\/awaa151","article-title":"Epilepsy-causing STX1B mutations translate altered protein functions into distinct phenotypes in mouse neurons","volume":"143","author":"Vardar","year":"2020","journal-title":"Brain"},{"key":"2025090219580935600_awaf119-B30","doi-asserted-by":"crossref","first-page":"721","DOI":"10.1016\/j.ajhg.2019.02.016","article-title":"Mutations in the neuronal vesicular SNARE VAMP2 affect synaptic membrane fusion and impair human neurodevelopment","volume":"104","author":"Salpietro","year":"2019","journal-title":"Am J Hum Genet"},{"key":"2025090219580935600_awaf119-B31","doi-asserted-by":"crossref","first-page":"1999","DOI":"10.1002\/humu.24109","article-title":"Overcoming presynaptic effects of VAMP2 mutations with 4-aminopyridine treatment","volume":"41","author":"Simmons","year":"2020","journal-title":"Hum Mutat"},{"key":"2025090219580935600_awaf119-B32","first-page":"1670","article-title":"Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling","volume":"125","author":"Baker","year":"2015","journal-title":"J Clin Invest"},{"key":"2025090219580935600_awaf119-B33","doi-asserted-by":"crossref","first-page":"2576","DOI":"10.1093\/brain\/awy209","article-title":"SYT1-associated neurodevelopmental disorder: A case series","volume":"9","author":"Baker","year":"2018","journal-title":"Brain"},{"key":"2025090219580935600_awaf119-B34","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.neuron.2020.04.003","article-title":"Molecular basis for synaptotagmin-1-associated neurodevelopmental disorder","volume":"107","author":"Bradberry","year":"2020","journal-title":"Neuron"},{"key":"2025090219580935600_awaf119-B35","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1172\/JCI90259","article-title":"Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder","volume":"127","author":"Lipstein","year":"2017","journal-title":"J Clin Invest"},{"key":"2025090219580935600_awaf119-B36","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1093\/brain\/awz391","article-title":"Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission","volume":"2","author":"Lammertse","year":"2020","journal-title":"Brain"},{"key":"2025090219580935600_awaf119-B37","doi-asserted-by":"crossref","first-page":"101308","DOI":"10.1016\/j.xcrm.2023.101308","article-title":"Microcircuit failure in STXBP1 encephalopathy leads to hyperexcitability","volume":"4","author":"Dos Santos","year":"2023","journal-title":"Cell Rep Med"},{"key":"2025090219580935600_awaf119-B38","doi-asserted-by":"crossref","first-page":"7301","DOI":"10.1038\/s41467-022-34940-z","article-title":"Greater genetic diversity is needed in human pluripotent stem cell models","volume":"13","author":"Ghosh","year":"2022","journal-title":"Nat Commun"},{"key":"2025090219580935600_awaf119-B39","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.stemcr.2014.07.006","article-title":"Transient p53 suppression increases reprogramming of human fibroblasts without affecting apoptosis and DNA damage","volume":"3","author":"Rasmussen","year":"2014","journal-title":"Stem Cell Reports"},{"key":"2025090219580935600_awaf119-B40","doi-asserted-by":"crossref","first-page":"e26314","DOI":"10.4161\/rdis.26314","article-title":"Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability","volume":"1","author":"Rohena","year":"2013","journal-title":"Rare Dis"},{"key":"2025090219580935600_awaf119-B41","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.jneumeth.2010.12.011","article-title":"Automated analysis of neuronal morphology, synapse number and synaptic recruitment","volume":"195","author":"Schmitz","year":"2011","journal-title":"J Neurosci Methods"},{"key":"2025090219580935600_awaf119-B42","doi-asserted-by":"crossref","first-page":"2340","DOI":"10.1016\/j.celrep.2019.01.103","article-title":"An electrostatic energy barrier for SNARE-dependent spontaneous and evoked synaptic transmission","volume":"26","author":"Ruiter","year":"2019","journal-title":"Cell Rep"},{"key":"2025090219580935600_awaf119-B43","doi-asserted-by":"crossref","first-page":"785","DOI":"10.1016\/j.neuron.2013.05.029","article-title":"Rapid single-step induction of functional neurons from human pluripotent stem cells","volume":"78","author":"Zhang","year":"2013","journal-title":"Neuron"},{"key":"2025090219580935600_awaf119-B44","doi-asserted-by":"crossref","first-page":"7834","DOI":"10.1073\/pnas.88.17.7834","article-title":"Excitatory and inhibitory autaptic currents in isolated hippocampal neurons maintained in cell culture","volume":"88","author":"Bekkers","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025090219580935600_awaf119-B45","doi-asserted-by":"crossref","first-page":"2212","DOI":"10.1016\/j.celrep.2019.04.059","article-title":"An autaptic culture system for standardized analyses of iPSC-derived human neurons","volume":"27","author":"Rhee","year":"2019","journal-title":"Cell Rep"},{"key":"2025090219580935600_awaf119-B46","doi-asserted-by":"crossref","first-page":"111988","DOI":"10.1016\/j.celrep.2022.111988","article-title":"Astrocytic cell adhesion genes linked to schizophrenia correlate with synaptic programs in neurons","volume":"42","author":"Pietilainen","year":"2023","journal-title":"Cell Rep"},{"key":"2025090219580935600_awaf119-B47","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1038\/ncomms2462","article-title":"Cytotoxicity of botulinum neurotoxins reveals a direct role of syntaxin 1 and SNAP-25 in neuron survival","volume":"4","author":"Peng","year":"2013","journal-title":"Nat Commun"},{"key":"2025090219580935600_awaf119-B48","doi-asserted-by":"crossref","first-page":"4525","DOI":"10.1523\/JNEUROSCI.3352-16.2017","article-title":"Early Golgi abnormalities and neurodegeneration upon loss of presynaptic proteins Munc18-1, syntaxin-1, or SNAP-25","volume":"17","author":"Santos","year":"2017","journal-title":"J Neurosci"},{"key":"2025090219580935600_awaf119-B49","doi-asserted-by":"crossref","first-page":"2199","DOI":"10.1016\/j.celrep.2019.04.058","article-title":"A single-cell model for synaptic transmission and plasticity in human iPSC-derived neurons","volume":"27","author":"Meijer","year":"2019","journal-title":"Cell Rep"},{"key":"2025090219580935600_awaf119-B50","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1007\/s40263-018-0536-2","article-title":"Restoring axonal function with 4-aminopyridine: Clinical efficacy in multiple sclerosis and beyond","volume":"32","author":"Leussink","year":"2018","journal-title":"CNS Drugs"},{"key":"2025090219580935600_awaf119-B51","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.neuron.2019.05.002","article-title":"SynGO: An evidence-based, expert-curated knowledge base for the synapse","volume":"103","author":"Koopmans","year":"2019","journal-title":"Neuron"},{"key":"2025090219580935600_awaf119-B52","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.jmb.2017.10.012","article-title":"Two disease-causing SNAP-25B mutations selectively impair SNARE C-terminal assembly","volume":"430","author":"Rebane","year":"2018","journal-title":"J Mol Biol"},{"key":"2025090219580935600_awaf119-B53","doi-asserted-by":"crossref","first-page":"e0971232024","DOI":"10.1523\/JNEUROSCI.0971-23.2024","article-title":"Human iPSC-derived neurons with reliable synapses and large presynaptic action potentials","volume":"44","author":"Bullmann","year":"2024","journal-title":"J Neurosci"},{"key":"2025090219580935600_awaf119-B54","doi-asserted-by":"crossref","first-page":"521","DOI":"10.1007\/s00429-018-1782-2","article-title":"A possible postsynaptic role for SNAP-25 in hippocampal synapses","volume":"224","author":"Hussain","year":"2019","journal-title":"Brain Struct Funct"},{"key":"2025090219580935600_awaf119-B55","doi-asserted-by":"crossref","first-page":"E922","DOI":"10.1073\/pnas.1525726113","article-title":"Differential vesicular sorting of AMPA and GABAA receptors","volume":"113","author":"Gu","year":"2016","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025090219580935600_awaf119-B56","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1016\/j.neuron.2012.11.029","article-title":"LTP requires a unique postsynaptic SNARE fusion machinery","volume":"77","author":"Jurado","year":"2013","journal-title":"Neuron"},{"key":"2025090219580935600_awaf119-B57","doi-asserted-by":"crossref","first-page":"242","DOI":"10.1523\/JNEUROSCI.4933-08.2010","article-title":"SNAP-25 is a target of protein kinase C phosphorylation critical to NMDA receptor trafficking","volume":"30","author":"Lau","year":"2010","journal-title":"J Neurosci"},{"issue":"Pt 24","key":"2025090219580935600_awaf119-B58","doi-asserted-by":"crossref","first-page":"4987","DOI":"10.1113\/jphysiol.2010.196964","article-title":"Post-tetanic potentiation is caused by two signalling mechanisms affecting quantal size and quantal content","volume":"588","author":"Xue","year":"2010","journal-title":"J Physiol"},{"key":"2025090219580935600_awaf119-B59","doi-asserted-by":"crossref","first-page":"15923","DOI":"10.1073\/pnas.0704603104","article-title":"Posttetanic potentiation critically depends on an enhanced Ca(2+) sensitivity of vesicle fusion mediated by presynaptic PKC","volume":"104","author":"Korogod","year":"2007","journal-title":"Proc Natl Acad Sci USA"},{"key":"2025090219580935600_awaf119-B60","doi-asserted-by":"crossref","first-page":"3980","DOI":"10.1016\/j.neuron.2021.09.054","article-title":"Munc13-1 is a Ca(2+)-phospholipid-dependent vesicle priming hub that shapes synaptic short-term plasticity and enables sustained neurotransmission","volume":"109","author":"Lipstein","year":"2021","journal-title":"Neuron"},{"key":"2025090219580935600_awaf119-B61","doi-asserted-by":"crossref","first-page":"e55713","DOI":"10.7554\/eLife.55713","article-title":"Post-tetanic potentiation lowers the energy barrier for synaptic vesicle fusion independently of synaptotagmin-1","volume":"9","author":"Huson","year":"2020","journal-title":"Elife"},{"key":"2025090219580935600_awaf119-B62","doi-asserted-by":"crossref","first-page":"502","DOI":"10.1126\/science.1193134","article-title":"Fast vesicle fusion in living cells requires at least three SNARE complexes","volume":"330","author":"Mohrmann","year":"2010","journal-title":"Science"},{"key":"2025090219580935600_awaf119-B63","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1186\/s12967-022-03747-3","article-title":"Current strategies employed in the manipulation of gene expression for clinical purposes","volume":"20","author":"Tsai","year":"2022","journal-title":"J Transl Med"},{"key":"2025090219580935600_awaf119-B64","doi-asserted-by":"crossref","first-page":"11865","DOI":"10.1523\/JNEUROSCI.1011-16.2016","article-title":"Interactions between SNAP-25 and synaptotagmin-1 are involved in vesicle priming, clamping spontaneous and stimulating evoked neurotransmission","volume":"36","author":"Schupp","year":"2016","journal-title":"J Neurosci"},{"key":"2025090219580935600_awaf119-B65","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1016\/j.bpsgos.2023.05.004","article-title":"Reduced MUNC18-1 levels, synaptic proteome changes, and altered network activity in STXBP1-related disorder patient neurons","volume":"4","author":"van Berkel","year":"2024","journal-title":"Biol Psychiatry Glob Open Sci"},{"key":"2025090219580935600_awaf119-B66","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.3390\/genes12071051","article-title":"Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy","volume":"12","author":"Bayat","year":"2021","journal-title":"Genes (Basel)"},{"key":"2025090219580935600_awaf119-B67","doi-asserted-by":"crossref","first-page":"12528","DOI":"10.3390\/ijms241512528","article-title":"Application of human brain organoids\u2013opportunities and challenges in modeling human brain development and neurodevelopmental diseases","volume":"24","author":"Kim","year":"2023","journal-title":"Int J Mol Sci"},{"key":"2025090219580935600_awaf119-B68","doi-asserted-by":"crossref","first-page":"1210","DOI":"10.1038\/nm.2224","article-title":"The benefits and limitations of animal models for translational research in neurodegenerative diseases","volume":"16","author":"Jucker","year":"2010","journal-title":"Nat Med"}],"container-title":["Brain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/brain\/advance-article-pdf\/doi\/10.1093\/brain\/awaf119\/62858245\/awaf119.pdf","content-type":"application\/pdf","content-version":"am","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/9\/3300\/62858245\/awaf119.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/brain\/article-pdf\/148\/9\/3300\/62858245\/awaf119.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,2]],"date-time":"2025-09-02T23:58:22Z","timestamp":1756857502000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/brain\/article\/148\/9\/3300\/8105786"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,4]]},"references-count":68,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,4,4]]},"published-print":{"date-parts":[[2025,9,3]]}},"URL":"https:\/\/doi.org\/10.1093\/brain\/awaf119","relation":{},"ISSN":["0006-8950","1460-2156"],"issn-type":[{"value":"0006-8950","type":"print"},{"value":"1460-2156","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,9]]},"published":{"date-parts":[[2025,4,4]]}}}