Of Men and Mice: Modeling the Fragile X Syndrome.
Of Men and Mice: Modeling the Fragile X Syndrome.
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DOI：
10.3389/fnmol.2018.00041
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发表时间：
2018
影响因子：
4.8
通讯作者：
Dahlhaus R
中科院分区：
文献类型：
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作者：
Dahlhaus R
脆性X综合征(FXS)是所有人类社会最常见的遗传性智力残疾形式之一。脆性x智力低下基因FMR1，FXS是由单个基因转录沉默引起的，以多种症状为特征，从智力障碍到自闭症和癫痫。20多年前，第一个动物模型被描述出来，Fmr1基因敲除小鼠。自那以后，还开发了其他几个模型，包括条件基因敲除小鼠、基因敲除大鼠、斑马鱼和果蝇模型。使用这些模型系统，已经确定了潜在药物治疗的各种靶点，并且许多治疗方法在临床前研究中被证明是有效的。然而，到目前为止，所有将这些发现转化为患者治疗方法的尝试都失败了。在这篇综述中，我将讨论潜在的困难，并解决我们未来研究的潜在替代方案。
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1, FXS is characterized by a variety of symptoms, which range from mental disabilities to autism and epilepsy. More than 20 years ago, a first animal model was described, the Fmr1 knock-out mouse. Several other models have been developed since then, including conditional knock-out mice, knock-out rats, a zebrafish and a drosophila model. Using these model systems, various targets for potential pharmaceutical treatments have been identified and many treatments have been shown to be efficient in preclinical studies. However, all attempts to turn these findings into a therapy for patients have failed thus far. In this review, I will discuss underlying difficulties and address potential alternatives for our future research.
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影响因子：
2.5
作者：
Auerbach, Benjamin D.;Bear, Mark F.
通讯作者：
Bear, Mark F.
影响因子：
2.5
作者：
Azevedo, Frederico A. C.;Carvalho, Ludmila R. B.;Herculano-Houzel, Suzana
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3.1
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通讯作者：
Frick A
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影响因子：
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作者：
Chandler, SP;Kansagra, P;Hirst, MC
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