Article

SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions

2023-05-21

Abstract excerpt

SNAP25 is one of three neuronal SNAREs driving synaptic vesicle exocytosis. We studied three mutations in SNAP25 that cause epileptic encephalopathy: V48F, and D166Y in the Synaptotagmin-1 (Syt1) binding interface, and I67N, which destabilizes the SNARE-complex. All three mutations reduced Syt1-dependent vesicle docking to SNARE-carrying liposomes and Ca 2+ -stimulated membrane fusion in vitro and in neurons. Th...

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Literature Corpus work: 8ade5c59-2d10-58b7-b5eb-64a220491290
DOI: 10.1101/2023.05.21.541607

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