Human TBK1: A Gatekeeper of Neuroinflammation.
Human TBK1: A Gatekeeper of Neuroinflammation.
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DOI：
10.1016/j.molmed.2016.04.006
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发表时间：
2016-06
影响因子：
13.6
通讯作者：
Sancho-Shimizu V
中科院分区：
文献类型：
--
作者：
Ahmad L;Zhang SY;Casanova JL;Sancho-Shimizu V
TANK结合激酶-1 （TBK1）是一种调节炎症和自噬的多聚体激酶，最近TBK1突变的发现首次强调了它在人类健康中的重要性，TBK1突变是肌萎缩性侧索硬化症（ALS）、额颞叶痴呆（FTD）、正常张力青光眼（NTG）或儿童疱疹性脑炎（HSE）的基础。TBK1的功能获得突变与NTG有关，而功能丧失突变导致ALS/FTD或HSE。鉴于这些新发现，我们回顾了TBK1在这些看似无关的等位基因疾病中的作用，并讨论了TBK1在神经系统疾病中的作用。这一发现有可能大大增加我们对这些知之甚少的神经系统疾病的分子基础的理解。
The importance of TANK binding kinase-1 (TBK1), a multimeric kinase that modulates inflammation and autophagy, in human health has been highlighted for the first time by the recent discoveries of mutations in TBK1 that underlie amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), normal tension glaucoma (NTG) or childhood herpes encephalitis (HSE). Gain-of-function mutations in TBK1 are associated with NTG, whereas loss-of-function mutations result in ALS/FTD or in HSE. In light of these new findings, we review the role of TBK1 in these seemingly unrelated, yet allelic diseases, and discuss the role of TBK1 in neurological diseases. This discovery has the potential to significantly increase our understanding of the molecular basis of these poorly understood neurological disorders.