Article
PARK14 (D331Y) PLA2G6 Causes Early-Onset Degeneration of Substantia Nigra Dopaminergic Neurons by Inducing Mitochondrial Dysfunction, ER Stress, Mitophagy Impairment and Transcriptional Dysregulation in a Knockin Mouse Model.
Molecular neurobiology - 1 Jun 2019
Chiu Ching-Chi, Lu Chin-Song, Weng Yi-Hsin, Chen Ying-Ling, Huang Ying-Zu, Chen Rou-Shayn, Cheng Yi-Chuan, Huang Yin-Cheng, Liu Yu-Chuan, Lai Szu-Chia, Lin Kun-Jun, Lin Yan-Wei, Chen Yu-Jie, Chen Chao-Lang, Yeh Tu-Hsueh, Wang Hung-Li
Abstract excerpt
PARK14 patients with homozygous (D331Y) PLA2G6 mutation display motor deficits of pure early-onset Parkinson's disease (PD). The aim of this study is to investigate the pathogenic mechanism of mutant (D331Y) PLA2G6-induced PD. We generated knockin (KI) mouse model of PARK14 harboring homozygous (D331Y) PLA2G6 mutation. Then, we investigated neuropathological and neurological phenotypes of PLA2G6D331Y/D331Y KI...
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