Induced pluripotent stem cells carrying novel APTX mutations presented defective neural differentiation with the accumulation of DNA single-strand breaks

Abstract Ataxia with oculomotor apraxia type 1 (AOA1) is a rare, autosomal recessive, early-onset, progressive cerebellar ataxia caused by mutations in the APTX gene, which encodes aprataxin, a DNA-adenylate hydrolase involved in DNA damage repair. The pathogenesis of AOA1 remains unclear. The purpo...

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Principais autores:	Zirui Chen, Yihua Huang, Zhirong Yuan, Kaibiao Xu, Yuqing Guan, Luqin Wang, Yawei Jiang, Weiling Deng, Yue Pan, Jing Liu, Yafang Hu
Formato:	Artigo
Idioma:	Inglês
Publicado:	Nature Publishing Group 2025-10-01
Series:	Cell Death Discovery
Acceso en liña:	https://doi.org/10.1038/s41420-025-02723-2
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