突触 SNARE 病的分子-电路疾病机制。

Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy.

机构信息

VIB-KU Leuven Center for Brain & Disease Research, 3000 Leuven, Belgium; KU Leuven, Department of Neurosciences, Leuven Brain Institute, 3000 Leuven, Belgium.

出版信息

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

DOI:10.1016/j.neuron.2020.12.009

PMID:33412092

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.

摘要

阿尔滕等人基于结构分析、神经递质释放和新兴的电路特性，对致病的 SNAP25 突变进行了详细研究。他们表明，SNAP25 SNARE 基序内结构上聚集的突变会导致类似的功能缺陷，并预测自发释放的改变是一种新的疾病机制。