Article
Pathogenic mechanism and therapeutic intervention of impaired N7-methylguanosine (m7G) tRNA modification.
Proceedings of the National Academy of Sciences of the United States of America - 5 Nov 2024
Ma Jieyi, Zheng Siyi, An Chenrui, Han Hui, Li Qiwen, Huang Ying, Xiong Gan, Chen Shuang, Guo Siyao, Wang Zhaoyu, Wei Wei, Shang Yudan, Ji Yushan, Yang Cuiyun, Choe Junho, Yuan Quan, Fan Yong, Zhang Canfeng, Lin Shuibin
Abstract excerpt
Mutations modification enzymes including the tRNA N7-methylguanosine (m7G) methyltransferase complex component WDR4 were frequently found in patients with neural disorders, while the pathogenic mechanism and therapeutic intervention strategies are poorly explored. In this study, we revealed that patient-derived WDR4 mutation leads to temporal and cell-type-specific neural degeneration, and directly causes neural...
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