调控CDKL5缺乏症中的兴奋性信号传导
Reigning in Excitatory Signaling in CDKL5 Deficiency.
作者信息
Forcelli Patrick A
出版信息
Epilepsy Curr. 2019 Sep;19(5):341-343. doi: 10.1177/1535759719869919. Epub 2019 Aug 28.
Abstract
[Box: see text].
摘要
[方框：见正文] 。
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本文引用的文献
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Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review.周期素依赖性激酶样 5 缺乏症：临床综述。
Pediatr Neurol. 2019 Aug;97:18-25. doi: 10.1016/j.pediatrneurol.2019.02.015. Epub 2019 Feb 23.
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CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility.CDKL5 控制海马体中含有 GluN2B 的 NMDA 受体的突触后定位，并调节癫痫易感性。
Neurobiol Dis. 2017 Oct;106:158-170. doi: 10.1016/j.nbd.2017.07.002. Epub 2017 Jul 6.
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Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice.谷氨酸能神经元中CDKL5的缺失破坏海马体微回路并导致小鼠记忆障碍。
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4
Alterations in sociability and functional brain connectivity caused by early-life seizures are prevented by bumetanide.布美他尼可预防早年癫痫发作所致的社交能力和大脑功能连接性改变。
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5
Mapping pathological phenotypes in a mouse model of CDKL5 disorder.在 CDKL5 障碍的小鼠模型中绘制病理表型。
PLoS One. 2014 May 16;9(5):e91613. doi: 10.1371/journal.pone.0091613. eCollection 2014.
6
Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development.棕榈酰化依赖的 CDKL5-PSD-95 相互作用调节 CDKL5 的突触靶向和树突棘发育。
Proc Natl Acad Sci U S A. 2013 May 28;110(22):9118-23. doi: 10.1073/pnas.1300003110. Epub 2013 May 13.
7
Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice.CDKL5 缺失会破坏激酶组谱和事件相关电位，导致小鼠出现类似自闭症的表型。
Proc Natl Acad Sci U S A. 2012 Dec 26;109(52):21516-21. doi: 10.1073/pnas.1216988110. Epub 2012 Dec 10.
8
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.CDKL5基因突变会导致一种伴有婴儿痉挛和智力迟钝的严重神经发育障碍。
Am J Hum Genet. 2004 Dec;75(6):1079-93. doi: 10.1086/426462. Epub 2004 Oct 18.
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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.丝氨酸/苏氨酸激酶9基因的破坏会导致严重的X连锁婴儿痉挛症和智力迟钝。
Am J Hum Genet. 2003 Jun;72(6):1401-11. doi: 10.1086/375538. Epub 2003 May 7.
10
Blockade of NMDA receptors and apoptotic neurodegeneration in the developing brain.发育中大脑中NMDA受体的阻断与凋亡性神经退行性变
Science. 1999 Jan 1;283(5398):70-4. doi: 10.1126/science.283.5398.70.
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