Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy

Roman Praschberger; Julie Jacquemyn; Patrik Verstreken

doi:10.1016/j.neuron.2020.12.009

Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy

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

Authors

Roman Praschberger¹, Julie Jacquemyn¹, Patrik Verstreken²

Affiliations

¹ VIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.
² VIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium. Electronic address: patrik.verstreken@kuleuven.be.

PMID: 33412092
DOI: 10.1016/j.neuron.2020.12.009

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.

Publication types

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MeSH terms

Brain Diseases*
Humans
Membrane Fusion
Protein Binding
SNARE Proteins / genetics
SNARE Proteins / metabolism
Synaptic Transmission*
Synaptosomal-Associated Protein 25 / genetics
Synaptosomal-Associated Protein 25 / metabolism

Substances

SNAP25 protein, human
SNARE Proteins
Synaptosomal-Associated Protein 25