Fragile X syndrome: from gene discovery to therapy
Fragile X syndrome: from gene discovery to therapy
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DOI：
10.2741/3785
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发表时间：
2011-01-01
影响因子：
3.1
通讯作者：
Kooy, Frank
中科院分区：
文献类型：
--
作者：
Heulens, Inge;Kooy, Frank
大约20年前，脆性X智力低下1基因FMR 1的动态突变被发现导致脆性X综合征。从那时起，大量关于该基因功能的信息被收集起来。它在RNA运输和稳定性中起作用，RNA结合影响许多其他基因的功能。在这篇综述中，我们专注于最近的分子和生化途径的知识显示相关的脆性X综合征，以及如何这些见解导致了第一系列的脆性X患者的临床试验。
A dynamic mutation in the fragile X mental retardation 1 gene, FMR1, was found to cause fragile X syndrome almost 20 years ago. Since, a wealth of information regarding the function of the gene has been gathered. It plays a role in RNA transport and stability and RNA-binding influences the function of a multitude of other genes. In this review, we focus on the recent knowledge of molecular and biochemical pathways shown to be relevant in the fragile X syndrome and how these insights have led to a first series of clinical trials in fragile X patients.