Article
Mutation of CRYAB encoding a conserved mitochondrial chaperone and antiapoptotic protein causes hereditary optic atrophy.
JCI insight - 19 Nov 2024
Wang Chenghui, Zhang Liyao, Nie Zhipeng, Liang Min, Liu Hanqing, Yi Qiuzi, Wang Chunyan, Ai Cheng, Zhang Juanjuan, Gao Yinglong, Ji Yanchun, Guan Min-Xin
Abstract excerpt
The degeneration of retinal ganglion cells (RGC) due to mitochondrial dysfunctions manifests optic neuropathy. However, the molecular components of RGC linked to optic neuropathy manifestations remain largely unknown. Here, we identified a potentially novel optic atrophy-causative CRYAB gene encoding a highly conserved major lens protein acting as mitochondrial chaperone and possessing antiapoptotic activities....
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