来自iPSC的PACS1综合征模型显示神经元活动的转录和功能缺陷

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Lauren Rylaarsdam1, Jennifer Rakotomamonjy1, Eleanor Pope1

  • 1Department of Neuroscience, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Nature communications
|January 27, 2024
PubMed
概括

PACS1综合征是一种神经发育障碍,由特定的PACS1基因变异引起. 这项研究揭示了这种变异如何损害成熟的神经元,影响突触信号传递和网络活动,从而发展人类大脑模型.

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