期刊
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
卷 3, 期 5, 页码 392-398出版社
WILEY
DOI: 10.1002/acn3.303
关键词
-
资金
- Alberta Innovates [201400509] Funding Source: researchfish
The prevalence of autism spectrum disorders (ASDs), which affect over 1% of the population, has increased twofold in recent years. Reduced expression of GABA(A) receptors has been observed in postmortem brain tissue and neuroimaging of individuals with ASDs. We found that deletion of the gene for the alpha 5 subunit of the GABA(A) receptor caused robust autism-like behaviors in mice, including reduced social contacts and vocalizations. Screening of human exome sequencing data from 396 ASD subjects revealed potential missense mutations in GABRA5 and in RDX, the gene for the alpha 5GABA(A) receptoranchoring protein radixin, further supporting a alpha 5GABA(A) receptor deficiency in ASDs.
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