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Article

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

eLife - 27 Feb 2024

Kádková Anna, Murach Jacqueline, Østergaard Maiken, Malsam Andrea, Malsam Jörg, Lolicato Fabio, Nickel Walter, Söllner Thomas H, Sørensen Jakob Balslev

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 Ca2+-stimulated membrane fusion in vitro and when expressed in...

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Exocytosis
Membrane Fusion
Mice
Mutation
SNARE Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Synaptic Transmission

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PMID: 38411501
DOI: 10.7554/eLife.88619
PMCID: PMC10911398

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SNAP25 disease mutations change the energy landscape for synaptic exocytosis due to aberrant SNARE interactions.PMID 38411501Read ↗

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