Article
SRR intronic variation inhibits expression of its neighbouring SMG6 gene and protects against temporal lobe epilepsy.
Journal of cellular and molecular medicine - 1 Mar 2018
Tao Hua, Zhou Xu, Xie Qian, Ma Zhonghua, Sun Fuhai, Cui Lili, Cai Yujie, Ma Guoda, Fu Jiawu, Liu Zhou, Li You, Zhou Haihong, Zhao Jianghao, Chen Yanyan, Mai Hui, Chen Ying, Chen Jun, Qi Wei, Sun Chaowen, Zhao Bin, Li Keshen
Abstract excerpt
D-serine is a predominant N-methyl-D-aspartate receptor co-agonist with glutamate, and excessive activation of the receptor plays a substantial role in epileptic seizures. Serine racemase (SRR) is responsible for transforming L-serine to D-serine. In this study, we aimed to investigate the genetic roles of SRR and a neighbouring gene, nonsense-mediated mRNA decay factor (SMG6), in temporal lobe epilepsy (TLE)....
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