Experimental models of Rett syndrome based on Mecp2 dysfunction.
Experimental models of Rett syndrome based on Mecp2 dysfunction.
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DOI：
10.1258/ebm.2010.010261
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发表时间：
2011-01
期刊：
影响因子：
--
通讯作者：
Pozzo-Miller L
中科院分区：
文献类型：
--
作者：
Calfa G;Percy AK;Pozzo-Miller L
Rett综合征（RTT）是一种神经发育障碍，主要发生在女性中，发病率为1：10，000，由MECP 2基因的零星突变引起，MECP 2基因编码甲基CpG结合蛋白-2，一种结合甲基化DNA的表观遗传转录因子。临床特征包括一段明显正常的早期发育期，随后是一个平台期，然后是明显的退化。视觉和听觉接触受损往往导致自闭症的初步诊断。基于小鼠Mecp 2基因功能丧失的实验模型的表征表明，脑细胞和突触的形态和功能的细微变化对关键脑功能的网络活动具有深远的影响。此外，这些实验模型已被用于通过遗传、药理学和环境操作成功逆转RTT样症状，为改善RTT个体生活质量的新治疗策略带来了希望。
Rett syndrome (RTT) is a neurodevelopmental disorder predominantly occurring in females with an incidence of 1:10,000 births and caused by sporadic mutations in the MECP2 gene, which encodes methyl-CpG-binding protein-2, an epigenetic transcription factor that binds methylated DNA. The clinical hallmarks include a period of apparently normal early development followed by a plateau and then subsequent frank regression. Impaired visual and aural contact often leads to an initial diagnosis of autism. The characterization of experimental models based on the loss-of-function of the mouse Mecp2 gene revealed that subtle changes in the morphology and function of brain cells and synapses have profound consequences on network activities that underlie critical brain functions. Furthermore, these experimental models have been used for successful reversals of RTT-like symptoms by genetic, pharmacological and environmental manipulations, raising hope for novel therapeutic strategies to improve the quality of life of RTT individuals.
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影响因子：
25
作者：
Ballas, Nurit;Lioy, Daniel T.;Grunseich, Christopher;Mandel, Gail
通讯作者：
Mandel, Gail
影响因子：
6.1
作者：
Asaka, Y;Jugloff, DGM;Fitzsimonds, RM
通讯作者：
Fitzsimonds, RM
DOI：
10.1073/pnas.1834280100
发表时间：
2003-09-02
影响因子：
11.1
作者：
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通讯作者：
Tully, T
影响因子：
1.7
作者：
BELICHENKO, PV;OLDFORS, A;DAHLSTROM, A
通讯作者：
DAHLSTROM, A
影响因子：
9.9
作者：
Bebbington, A.;Anderson, A.;Leonard, H.
通讯作者：
Leonard, H.