GGC expansions in NOTCH2NLC contribute to Parkinson disease and dopaminergic neuron degeneration.
Qiong LiuJuan ChenJin XueXun ZhouYun TianQiao XiaoWen HuangYongcheng PanXiaoxia ZhouJian LiYuwen ZhaoHongxu PanYige WangRuncheng HeYaqin XiangTian TuQian XuQiying SunJieqiong TanXinxiang YanJinchen LiJi-Feng GuoLu ShenRanhui DuanBeisha TangZheng-Hua LiuPublished in: European journal of neurology (2023)
Overall, our findings provide strong evidence that GGC repeat expansions within NOTCH2NLC contribute to the pathogenesis of PD and cause degeneration of nigral dopaminergic neurons.