The pathophysiology of fragile X (and what it teaches us about synapses).
The pathophysiology of fragile X (and what it teaches us about synapses).
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DOI：
10.1146/annurev-neuro-060909-153138
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发表时间：
2012
影响因子：
13.9
通讯作者：
Bear MF
中科院分区：
文献类型：
--
作者：
Bhakar AL;Dölen G;Bear MF
脆性X是智力残疾和自闭症的最常见的已知遗传原因，它通常是由FMR 1的转录沉默和编码蛋白FMRP（脆性X精神发育迟滞蛋白）的丢失引起的。FMRP是一种mRNA结合蛋白，在许多突触中发挥作用，抑制由代谢型谷氨酸受体（mGluRs）1和5刺激的局部翻译。最近对FMRP生物学和mGluR 1/5下游信号通路的研究已经对突触蛋白合成和可塑性如何受经验调节产生了更深入的了解。这一新知识也提出了在脆性X染色体中纠正改变的信号和突触功能的方法，基于这一信息的人体临床试验正在进行中。
Fragile X is the most common known inherited cause of intellectual disability and autism, and it typically results from transcriptional silencing of FMR1 and loss of the encoded protein, FMRP (fragile X mental retardation protein). FMRP is an mRNA-binding protein that functions at many synapses to inhibit local translation stimulated by metabotropic glutamate receptors (mGluRs) 1 and 5. Recent studies on the biology of FMRP and the signaling pathways downstream of mGluR1/5 have yielded deeper insight into how synaptic protein synthesis and plasticity are regulated by experience. This new knowledge has also suggested ways that altered signaling and synaptic function can be corrected in fragile X, and human clinical trials based on this information are under way.
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影响因子：
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作者：
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通讯作者：
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