WDR45缺陷缩短了患者衍生的iPSCs中的多巴氨基神经元中的轴突长度

Nana Huang1, Qianqian Ouyang1, Yuxuan Gong1

  • 1Human Phenome Institute, Institute of Medical Genetics and Genomics, MOE Key Laboratory of Contemporary Anthropology, Zhangjiang Fudan International Innovation Center, Fudan University, 825 Zhangheng Road, Shanghai 201203, China.

Human molecular genetics
|September 23, 2025
PubMed
概括

WDR45基因的突变导致β-螺旋蛋白相关的神经退行 (BPAN),导致RNA拼接受损和神经元轴突较短. 这项研究揭示了神经元中的铁积累,为神经退行性疾病机制提供了洞察力.