More is Different in mTORopathies.
作者信息
Wang Yu
机构信息
Department of Neurology, University of Michigan.
出版信息
Epilepsy Curr. 2024 Oct 16;24(5):358-360. doi: 10.1177/15357597241280470. eCollection 2024 Sep-Oct.
Abstract
摘要
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本文引用的文献
1
The mTOR pathway genes , , , , and have convergent and divergent impacts on cortical neuron development and function.mTOR 通路基因 、 、 、 、 和 对皮质神经元的发育和功能有趋同和分歧的影响。
Elife. 2024 Feb 27;12:RP91010. doi: 10.7554/eLife.91010.
2
Synaptic hyperexcitability of cytomegalic pyramidal neurons contributes to epileptogenesis in tuberous sclerosis complex.巨细胞性锥体神经元的突触过度兴奋导致结节性硬化症的癫痫发生。
Cell Rep. 2022 Jul 19;40(3):111085. doi: 10.1016/j.celrep.2022.111085.
3
Non-Cell Autonomous Epileptogenesis in Focal Cortical Dysplasia.局灶性皮质发育不良中非细胞自主的癫痫发生。
Ann Neurol. 2021 Aug;90(2):285-299. doi: 10.1002/ana.26149. Epub 2021 Jul 16.
4
RHEB/mTOR hyperactivity causes cortical malformations and epileptic seizures through increased axonal connectivity.雷帕霉素靶蛋白（mTOR）活性过度通过增加轴突连接导致皮质畸形和癫痫发作。
PLoS Biol. 2021 May 26;19(5):e3001279. doi: 10.1371/journal.pbio.3001279. eCollection 2021 May.
5
Convergent and Divergent Mechanisms of Epileptogenesis in mTORopathies.mTOR 病中癫痫发生的汇聚和发散机制
Front Neuroanat. 2021 Apr 9;15:664695. doi: 10.3389/fnana.2021.664695. eCollection 2021.
6
Ectopic HCN4 expression drives mTOR-dependent epilepsy in mice.异位 HCN4 表达驱动小鼠的 mTOR 依赖性癫痫。
Sci Transl Med. 2020 Nov 18;12(570). doi: 10.1126/scitranslmed.abc1492.
7
Filamin A inhibition reduces seizure activity in a mouse model of focal cortical malformations.细丝蛋白A抑制可降低局灶性皮质发育异常小鼠模型中的癫痫发作活动。
Sci Transl Med. 2020 Feb 19;12(531). doi: 10.1126/scitranslmed.aay0289.
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Brain Somatic Mutations in MTOR Disrupt Neuronal Ciliogenesis, Leading to Focal Cortical Dyslamination.MTOR 中的脑体细胞突变会破坏神经元纤毛发生，导致局灶性皮质分层异常。
Neuron. 2018 Jul 11;99(1):83-97.e7. doi: 10.1016/j.neuron.2018.05.039. Epub 2018 Jun 21.
9
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.DEPDC5 抑癌基因 mTORC1 第二打击镶嵌突变导致局灶性皮质发育不良相关性癫痫。
J Clin Invest. 2018 Jun 1;128(6):2452-2458. doi: 10.1172/JCI99384. Epub 2018 Apr 30.
10
Loss of mTOR repressors Tsc1 or Pten has divergent effects on excitatory and inhibitory synaptic transmission in single hippocampal neuron cultures.mTOR 抑制剂 Tsc1 或 Pten 的缺失对单个海马神经元培养物中兴奋性和抑制性突触传递有不同的影响。
Front Mol Neurosci. 2014 Feb 3;7:1. doi: 10.3389/fnmol.2014.00001. eCollection 2014.
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