Article
Biallelic hexose-6-phosphate dehydrogenase variants cause mitochondrial dysfunction underlying Parkinson's disease.
Science bulletin - 15 Aug 2026
Zhao Miao, Zhao Yuwen, Huang Juan, Guo Yu, Yu Wenjun, Hou Haiyan, Huang Yilin, Du Xinying, Zhang Yu, Xie Mujun, Ren Zuowen, Guan Haoyu, Pan Hongxu, Xu Wenwen, Sun Qiying, Xu Qian, Lv Lingling, Wang Chunyu, Lei Lifang, Wu Heng, Shen Lu, Jiang Hong, Yan Xinxiang, Li Jinchen, Zheng Pengli, Guo Jifeng, Tang Beisha, Tan Jieqiong, Liu Zhenhua
Abstract excerpt
Parkinson's disease (PD) is a progressive neurodegenerative disorder influenced by complex genetic and environmental factors. We report that biallelic variants in hexose-6-phosphate dehydrogenase (H6PD), which encodes a key enzyme in the endoplasmic reticulum (ER) pentose phosphate pathway, contribute to PD and investigate its role in maintaining mitochondrial homeostasis. Through whole-exome sequencing of 2223...
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