Alten et al. present a detailed investigation of disease-causing SNAP25 mutations based on structural analysis, neurotransmitter release, and emerging circuit properties. They show that structurally clustered mutations within the SNAP25 SNARE motif cause similar functional defects and predict that alterations of spontaneous release are a novel disease mechanism. Copyright © 2020 Elsevier Inc. All rights reserved.
Roman Praschberger, Julie Jacquemyn, Patrik Verstreken. Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy. Neuron. 2021 Jan 06;109(1):1-3
PMID: 33412092
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