Mini-review: Synaptojanin 1 and its implications in membrane trafficking.
Mini-review: Synaptojanin 1 and its implications in membrane trafficking.
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DOI：
10.1016/j.neulet.2021.136288
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发表时间：
2021-11-20
影响因子：
2.5
通讯作者：
Pan PY
中科院分区：
文献类型：
--
作者：
Choudhry H;Aggarwal M;Pan PY
这篇小型综述旨在总结越来越多的关于synaptojanin 1（Synj1）的文献，Synj1是一种磷酸肌醇磷酸酶，最初被认为在突触囊泡循环中起着重要作用。Synj1由SYNJ1基因编码，其突变和变体与越来越多的神经系统疾病相关。为了更好地了解Synj1在疾病发病机制中的作用机制，我们回顾了磷酸肌醇信号通路的详细信息，并报道了Synj1参与帕金森病（PD）的膜运输。最近的研究极大地推进了我们对Synj1蛋白结构和功能的理解，同时拓宽了我们对Synj1如何调节各种生物和细胞类型中的突触膜运输和内体运输的看法。越来越多的证据表明，低效的膜运输是与Synj1表达异常相关的神经退行性疾病的关键致病机制。尽管在该领域取得了重大进展，但Synj1与贩运，信号传导和发病机制的联系仍然缺乏，仍有待解决。
This mini-review aims to summarize a growing body of literature on synaptojanin 1 (Synj1), a phosphoinositide phosphatase that was initially known to have a prominent role in synaptic vesicle recycling. Synj1 is coded by the SYNJ1 gene, whose mutations and variants are associated with an increasing number of neurological disorders. To better understand the mechanistic role of Synj1 in disease pathogenesis, we review details of phosphoinositide signaling pathways and the reported involvement of Synj1 in membrane trafficking with a specific focus on Parkinson’s disease (PD). Recent studies have tremendously advanced our understanding of Synj1 protein structure and function while broadening our view of how Synj1 regulates synaptic membrane trafficking and endosomal trafficking in various organisms and cell types. A growing body of evidence points to inefficient membrane trafficking as key pathogenic mechanisms in neurodegenerative diseases associated with abnormal Synj1 expression. Despite significant progress made in the field, the mechanism by which Synj1 connects to trafficking, signaling, and pathogenesis is lacking and remains to be addressed.
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DOI：
10.1083/jcb.150.3.589
发表时间：
2000-08-07
期刊：
The Journal of cell biology
影响因子：
--
作者：
Harris TW;Hartwieg E;Horvitz HR;Jorgensen EM
通讯作者：
Jorgensen EM
影响因子：
11.8
作者：
Chang-Ileto, Belle;Frere, Samuel G.;Chan, Robin B.;Voronov, Sergey V.;Roux, Aurelian;Di Paolo, Gilbert
通讯作者：
Di Paolo, Gilbert
影响因子：
3.3
作者：
Antonescu CN;Aguet F;Danuser G;Schmid SL
通讯作者：
Schmid SL
影响因子：
12.4
作者：
Herrera, F.;Chen, Q.;Schubert, D. R.
通讯作者：
Schubert, D. R.
影响因子：
4.1
作者：
Kirola, Laxmi;Behari, Madhuri;Thelma, B. K.
通讯作者：
Thelma, B. K.