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Article

SNAP-25 disease variants affect synaptic transmission by destabilizing SNARE complexes within a multimeric SNARE ring.

Cell reports - 24 Feb 2026

Vold Victoria Amstrup, Yang Jie, Østergaard Maiken, Lassen Anna Schrøder, Kádková Anna, Kumar Avinash, Walter Alexander M, Zhang Yongli, Sørensen Jakob B

Abstract excerpt

SNAREopathies are neurodevelopmental syndromes arising from de novo mutations in the synaptic machinery. Two variants are SNAP-25 I192N and I192T, which cause early lethality and moderate developmental delay, respectively. Both variants lead to destabilization of the C-terminal end of the SNARE complex and reduced binding to the Munc18-1:VAMP2:syntaxin-1 acceptor complex while reducing spontaneous and evoked...

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Mutation
Neurons
SNARE Proteins
Synaptic Transmission
Synaptosomal-Associated Protein 25

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41579375
DOI: 10.1016/j.celrep.2025.116870
PMCID: PMC13132008

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VAMP2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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