Neurodevelopmental defects in human cortical organoids with N-acetylneuraminic acid synthase mutation

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for the Advancement of Science 2023
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10672180/
https://www.ncbi.nlm.nih.gov/pubmed/38000033
http://dx.doi.org/10.1126/sciadv.adf2772

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