Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.
Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.
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DOI：
10.3389/fneur.2021.806506
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发表时间：
2021
影响因子：
3.4
通讯作者：
Houlden H
中科院分区：
文献类型：
--
作者：
Cali E;Rocca C;Salpietro V;Houlden H
SNARE（可溶性N-乙基马来酰亚胺敏感因子附着蛋白受体）是一个异质性蛋白质家族，其与其关键调节因子一起参与突触囊泡胞吐和突触传递。SNARE代表了这种蛋白质复合物的核心成分。尽管SNARE机制的具体机制尚未完全揭示，但近年来的研究已经提供了对调节神经递质释放的基本融合机制的相互作用的更清晰的理解。编码SNARE蛋白或SNARE复合物相关蛋白的基因突变与最近被定义为“SNARE病”的神经系统疾病的可变谱相关。这些包括神经发育障碍、自闭症谱系障碍（ASD）、运动障碍、癫痫发作和癫痫样异常。与癫痫发作相关的SNARE表型谱范围从简单的热性癫痫发作和婴儿痉挛到严重的早发性癫痫脑病。我们的研究旨在回顾和描述与突触囊泡胞吐和传递失调相关的癫痫表型，重点关注SNARE核心复合物（STX 1B，VAMP 2，SNAP 25），系链复合物（STXBP 1）和相关下游调节剂的主要蛋白。
SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an heterogeneous family of proteins that, together with their key regulators, are implicated in synaptic vesicle exocytosis and synaptic transmission. SNAREs represent the core component of this protein complex. Although the specific mechanisms of the SNARE machinery is still not completely uncovered, studies in recent years have provided a clearer understanding of the interactions regulating the essential fusion machinery for neurotransmitter release. Mutations in genes encoding SNARE proteins or SNARE complex associated proteins have been associated with a variable spectrum of neurological conditions that have been recently defined as “SNAREopathies.” These include neurodevelopmental disorder, autism spectrum disorder (ASD), movement disorders, seizures and epileptiform abnormalities. The SNARE phenotypic spectrum associated with seizures ranges from simple febrile seizures and infantile spasms, to severe early-onset epileptic encephalopathies. Our study aims to review and delineate the epileptic phenotypes associated with dysregulation of synaptic vesicle exocytosis and transmission, focusing on the main proteins of the SNARE core complex (STX1B, VAMP2, SNAP25), tethering complex (STXBP1), and related downstream regulators.
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影响因子：
--
作者：
Arisaka A;Nakashima M;Kumada S;Inoue K;Nishida H;Mashimo H;Kashii H;Kato M;Maruyama K;Okumura A;Saitsu H;Matsumoto N;Fukuda M
通讯作者：
Fukuda M
影响因子：
1.3
作者：
Ehret JK;Engels H;Cremer K;Becker J;Zimmermann JP;Wohlleber E;Grasshoff U;Rossier E;Bonin M;Mangold E;Bevot A;Schön S;Heilmann-Heimbach S;Dennert N;Mathieu-Dramard M;Lacaze E;Plessis G;de Broca A;Jedraszak G;Röthlisberger B;Miny P;Filges I;Dufke A;Andrieux J;Lee JA;Zink AM
通讯作者：
Zink AM
影响因子：
3
作者：
Guacci, Anna;Chetta, Massimiliano;Coppola, Giangennaro
通讯作者：
Coppola, Giangennaro
影响因子：
11.4
作者：
Dulubova, I;Sugita, S;Rizo, J
通讯作者：
Rizo, J
影响因子：
5.6
作者：
Berg, Anne T.;Berkovic, Samuel F.;Scheffer, Ingrid E.
通讯作者：
Scheffer, Ingrid E.