OPA1 mutations in dominant optic atrophy: domain-specific defects in mitochondrial fusion and apoptotic regulation
This study highlights the domain-specific impacts of OPA1 mutations on mitochondrial function and ADOA pathology, revealing unique roles of the BSE domain in apoptosis regulation and mitochondrial integrity. These findings provide insights into ADOA mechanisms and potential therapeutic targets.
Authors
- Zhengmao Hu (ORCID: https://orcid.org/0000-0002-3921-8205)
- Runyi Tian (ORCID: https://orcid.org/0000-0003-3786-5502)
- Kexuan Zhang
- Zhonghua Hu (ORCID: https://orcid.org/0000-0002-0117-7081)
- Wenqing Zhang (ORCID: https://orcid.org/0000-0002-3636-7133)
- Lin Zhang (ORCID: https://orcid.org/0000-0002-5977-6589)
- Lili Yin
- Xiaorong Hou
Institutions
- Tongji University (CN)
- Central South University (CN)
- Changsha Medical University (CN)
- Hunan University (CN)
- First People’s Hospital of Zunyi (CN)
- Shanghai First People's Hospital (CN)
- Third Xiangya Hospital (CN)
- Xiangya Hospital Central South University (CN)
Publication Details
- Journal
- Journal of Translational Medicine
- Published
- 2025-04-24
- DOI
- https://doi.org/10.1186/s12967-025-06471-w
- Citations
- 1
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- National Natural Science Foundation of China