Article
KARS Mutations Impair Brain Myelination by Inducing Oligodendrocyte Deficiency: One Potential Mechanism and Improvement by Melatonin.
Journal of pineal research - 1 Aug 2024
Yu Lijia, Chen Zhilin, Zhou Xiaolong, Teng Fei, Bai Qing-Ran, Li Lixi, Li Yunhong, Liu Ying, Zeng Qiyu, Wang Yong, Wang Meihua, Xu Yaling, Tang Xiaohui, Wang Xijin
Abstract excerpt
It is very crucial to investigate key molecules that are involved in myelination to gain an understanding of brain development and injury. We have reported for the first time that pathogenic variants p.R477H and p.P505S in KARS, which encodes lysyl-tRNA synthetase (LysRS), cause leukoencephalopathy with progressive cognitive impairment in humans. The role and action mechanisms of KARS in brain myelination during...
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