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Fragile X mental retardation protein: A paradigm for translational control by RNA-binding proteins.脆性X智力低下蛋白：RNA结合蛋白介导翻译调控的范例
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Increased 2-arachidonoyl-sn-glycerol levels normalize cortical responses to sound and improve behaviors in Fmr1 KO mice.2-花生四烯酸甘油水平升高可使Fmr1基因敲除小鼠的听觉皮层反应正常化，并改善其行为表现。
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本文引用的文献

1
Metabotropic glutamate receptors and fragile x mental retardation protein: partners in translational regulation at the synapse.代谢型谷氨酸受体与脆性X智力低下蛋白：突触处翻译调控的伙伴
Sci Signal. 2008 Feb 5;1(5):pe6. doi: 10.1126/stke.15pe6.
2
The fragile X mental retardation protein is a molecular adaptor between the neurospecific KIF3C kinesin and dendritic RNA granules.脆性X智力低下蛋白是神经特异性驱动蛋白KIF3C与树突状RNA颗粒之间的分子衔接蛋白。
Hum Mol Genet. 2007 Dec 15;16(24):3047-58. doi: 10.1093/hmg/ddm263. Epub 2007 Sep 19.
3
Expression changes of microtubule associated protein 1B in the brain of Fmr1 knockout mice.脆性X智力低下基因1敲除小鼠大脑中微管相关蛋白1B的表达变化
Neurosci Bull. 2007 Jul;23(4):203-8. doi: 10.1007/s12264-007-0030-1.
4
Morphological and behavioral consequences of recurrent seizures in neonatal rats are associated with glucocorticoid levels.新生大鼠反复癫痫发作的形态学和行为学后果与糖皮质激素水平有关。
Neurosci Bull. 2007 Mar;23(2):83-91. doi: 10.1007/s12264-007-0012-3.
5
Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression.脆性X智力低下蛋白的动态翻译和蛋白酶体调节控制代谢型谷氨酸受体依赖性长时程抑制。
Neuron. 2006 Aug 17;51(4):441-54. doi: 10.1016/j.neuron.2006.07.005.
6
Metabotropic receptor-dependent long-term depression persists in the absence of protein synthesis in the mouse model of fragile X syndrome.在脆性X综合征小鼠模型中，代谢型受体依赖性长时程抑制在缺乏蛋白质合成的情况下依然存在。
J Neurophysiol. 2006 May;95(5):3291-5. doi: 10.1152/jn.01316.2005. Epub 2006 Feb 1.
7
A reduced number of metabotropic glutamate subtype 5 receptors are associated with constitutive homer proteins in a mouse model of fragile X syndrome.在脆性X综合征小鼠模型中，代谢型谷氨酸受体5亚型数量的减少与组成型荷马蛋白相关。
J Neurosci. 2005 Sep 28;25(39):8908-16. doi: 10.1523/JNEUROSCI.0932-05.2005.
8
Prolonged epileptiform discharges induced by altered group I metabotropic glutamate receptor-mediated synaptic responses in hippocampal slices of a fragile X mouse model.在脆性X小鼠模型的海马切片中，由I组代谢型谷氨酸受体介导的突触反应改变所诱导的长时间癫痫样放电。
J Neurosci. 2005 Aug 31;25(35):8048-55. doi: 10.1523/JNEUROSCI.1777-05.2005.
9
Neurochondrin negatively regulates CaMKII phosphorylation, and nervous system-specific gene disruption results in epileptic seizure.神经软骨素负向调节钙/钙调蛋白依赖性蛋白激酶II（CaMKII）的磷酸化，并且神经系统特异性基因破坏会导致癫痫发作。
J Biol Chem. 2005 May 27;280(21):20503-8. doi: 10.1074/jbc.M414033200. Epub 2005 Mar 24.
10
Decreased GABA(A) receptor expression in the seizure-prone fragile X mouse.癫痫易感性脆性X小鼠中GABA(A)受体表达降低。
Neurosci Lett. 2005 Apr 4;377(3):141-6. doi: 10.1016/j.neulet.2004.11.087. Epub 2004 Dec 23.

脆性X综合征与癫痫

Fragile X syndrome and epilepsy.

作者信息

Qiu Li-Feng, Hao Yan-Hong, Li Qing-Zhang, Xiong Zhi-Qi

机构信息

Northeast Agriculture University, Harbin 150030, China.

出版信息

Neurosci Bull. 2008 Oct;24(5):338-44. doi: 10.1007/s12264-008-1221-0.

DOI:10.1007/s12264-008-1221-0
PMID:18839028
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5552528/
Abstract

Fragile X syndrome (FXS) is one of the most prevalent mental retardations. It is mainly caused by the loss of fragile X mental retardation protein (FMRP). FMRP is an RNA binding protein and can regulate the translation of its binding RNA, thus regulate several signaling pathways. Many FXS patients show high susceptibility to epilepsy. Epilepsy is a chronic neurological disorder which is characterized by the recurrent appearance of spontaneous seizures due to neuronal hyperactivity in the brain. Both the abnormal activation of several signaling pathway and morphological abnormality that are caused by the loss of FMRP can lead to a high susceptibility to epilepsy. Combining with the research progresses on both FXS and epilepsy, we outlined the possible mechanisms of high susceptibility to epilepsy in FXS and tried to give a prospect on the future research on the mechanism of epilepsy that happened in other mental retardations.

摘要

脆性X综合征（FXS）是最常见的智力障碍之一。它主要由脆性X智力低下蛋白（FMRP）缺失引起。FMRP是一种RNA结合蛋白，能够调节其结合RNA的翻译，进而调控多个信号通路。许多FXS患者对癫痫高度易感。癫痫是一种慢性神经系统疾病，其特征是由于大脑中神经元活动过度而反复出现自发性癫痫发作。FMRP缺失导致的多个信号通路异常激活和形态异常都可导致对癫痫的高度易感性。结合FXS和癫痫的研究进展，我们概述了FXS中癫痫高度易感性的可能机制，并试图对未来其他智力障碍中癫痫发生机制的研究进行展望。