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Comment
. 2021 Jan 6;109(1):1-3.
doi: 10.1016/j.neuron.2020.12.009.

Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy

Roman Praschberger  1 , Julie Jacquemyn  1 , Patrik Verstreken  2
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Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy

Roman Praschberger et al. Neuron. .
Free article

Abstract

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.

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