Article
Functional validation of a human GLUD2 variant in a murine model of Parkinson's disease.
Cell death & disease - 22 Oct 2020
Zhang Wenlong, Gong Junwei, Ding Liuyan, Zhang Zhiling, Pan Xiaowen, Chen Xiang, Guo Wenyuan, Zhang Xiaokang, Yang Xinling, Peng Guoyou, Lin Yuwan, Gao Feng, Li Yuanquan, Zhu Xiaoqin, Xuan Aiguo, Wang Shu, Sun Xiangdong, Zhang Yunlong, Xu Pingyi
Abstract excerpt
Parkinson's disease (PD) is a common neurodegenerative disease characterized by Lewy body formation and progressive dopaminergic neuron death in the substantia nigra (SN). Genetic susceptibility is a strong risk factor for PD. Previously, a rare gain-of-function variant of GLUD2 glutamate dehydrogenase (T1492G) was reported to be associated with early onset in male PD patients; however, the function and...
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