Article
Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation.
Science advances - 24 Nov 2023
Bu Qian, Dai Yanping, Zhang Huaqin, Li Min, Liu Haxiaoyu, Huang Yan, Zeng Ailing, Qin Feng, Jiang Linhong, Wang Liang, Chen Yaxing, Li Hongchun, Wang Xiaojie, Zhao Yue, Qin Meng, Zhao Ying, Zhang Ni, Kuang Weihong, Zhao Yinglan, Cen Xiaobo
Abstract excerpt
Biallelic genetic variants in N-acetylneuraminic acid synthase (NANS), a critical enzyme in endogenous sialic acid biosynthesis, are clinically associated with neurodevelopmental disorders. However, the mechanism underlying the neuropathological consequences has remained elusive. Here, we found that NANS mutation resulted in the absence of both sialic acid and protein polysialylation in the cortical organoids and...
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