Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy

Contrasting pathophysiological mechanisms of OPA1 mutations in autosomal dominant optic atrophy

Abstract Autosomal dominant optic atrophy (ADOA) caused by mutations in the nuclear-encoded OPA1 gene result in the preferential loss of retinal ganglion cells (RGCs) and progressive optic nerve degeneration. The severity of ADOA can be highly variable. This study compared the pathophysiological con...

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Main Authors: Shi-Qi Yao, Jia-Jian Liang, Hui Zhou, Shaoying Tan, Yingjie Cao, Chong-Bo Chen, Ciyan Xu, Ruixi Wang, Tai-Ping Li, Fang-Fang Zhao, Yun Wang, Han-Jie He, Dan Zhang, Meng Wang, Lifang Liu, Patrick Yu-Wai-Man, Shihui Wei, Ling-Ping Cen
Format: Article
Language:English
Published: Nature Publishing Group 2025-05-01
Series:Cell Death Discovery
Online Access:https://doi.org/10.1038/s41420-025-02442-8
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https://doi.org/10.1038/s41420-025-02442-8

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