期刊
FRONTIERS IN BIOSCIENCE-LANDMARK
卷 16, 期 -, 页码 1211-1232出版社
FRONTIERS IN BIOSCIENCE INC
DOI: 10.2741/3785
关键词
fragile X syndrome; mental retardation; rational therapy; animal models; GABA receptor; mGluR group 1 receptor
资金
- Institute for the Promotion of Innovation through Science and Technology in Flanders (IWT Vlaanderen)
- Belgian National Fund for Scientific Research - Flanders (FWO)
- FRAXA Research Foundation
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.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据