Cerebral organoid and mouse models reveal a RAB39b–PI3K–mTOR pathway-dependent dysregulation of cortical development leading to macrocephaly/autism phenotypes

Dysregulation of early neurodevelopment is implicated in macrocephaly/autism disorders. However, the mechanism underlying this dysregulation, particularly in human cells, remains poorly understood. Mutations in the small GTPase gene RAB39b are associated with X-linked macrocephaly, autism spectrum d...

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Detalles Bibliográficos
Autores principales: Zhang, Wei, Ma, Li, Yang, Mei, Shao, Qiang, Xu, Jian, Lu, Zhipeng, Zhao, Zhen, Chen, Rong, Chai, Yang, Chen, Jian-Fu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2020
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7111266/
https://www.ncbi.nlm.nih.gov/pubmed/32115408
http://dx.doi.org/10.1101/gad.332494.119

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