Article
FBXL4 mutations cause excessive mitophagy via BNIP3/BNIP3L accumulation leading to mitochondrial DNA depletion syndrome.
Cell death and differentiation - 1 Oct 2023
Chen Yingji, Jiao Dongyue, Liu Yang, Xu Xiayun, Wang Yilin, Luo Xiaona, Saiyin Hexige, Li Yao, Gao Kun, Chen Yucai, Zhao Shi-Min, Ma Lixiang, Wang Chenji
Abstract excerpt
Mitochondria are essential organelles found in eukaryotic cells that play a crucial role in ATP production through oxidative phosphorylation (OXPHOS). Mitochondrial DNA depletion syndrome (MTDPS) is a group of genetic disorders characterized by the reduction of mtDNA copy number, leading to deficiencies in OXPHOS and mitochondrial functions. Mutations in FBXL4, a substrate-binding adaptor of Cullin 1-RING...
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