Chen, Zirui
Huang, Yihua
Yuan, Zhirong
Xu, Kaibiao
Guan, Yuqing
Wang, Luqin
Jiang, Yawei
Deng, Weiling
Pan, Yue
Liu, Jing
Hu, Yafang https://orcid.org/0000-0001-6162-400X
Funding for this research was provided by:
National Natural Science Foundation of China (82272991)
Natural Science Foundation of Guangdong Province (2022A1515010013)
Article History
Received: 17 December 2024
Revised: 30 July 2025
Accepted: 1 September 2025
First Online: 24 October 2025
Competing interests
: The authors declare no competing interests.
: Title of the approved project: Study of the molecular mechanisms and therapeutic strategies of APTX mutations leading to AOA1 via patient-derived iPSCs. The study was approved by the Ethical Review Committee at Nanfang Hospital, Southern Medical University, Guangzhou, China. The approval number of the ethics committee was no. NFEC-2023-427. All participants provided informed consent. Date of approval: 2023-09-28. For animal experiments, title of the approved project: Study of the molecular mechanisms and therapeutic strategies of APTX mutations leading to AOA1 using patient-derived iPSCs. The study was approved by the Ethical Review Committee at the CAS Key Laboratory of Regenerative Biology, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health. The approval number of the ethics committee was no. IACUC-2021030. All participants provided informed consent. Date of approval: 2021-07-11.
: The case report in this study has consent for publication and was obtained from the patient’s parents.