An animal model for mitochondrial tyrosyl-tRNA synthetase deficiency reveals links between oxidative phosphorylation and retinal function
Xiaofen Jin, Zengming Zhang, Zhipeng Nie, Chenghui Wang, Feilong Meng, Qiuzi Yi, Mengquan Chen, Jiji Sun, Jian Zou, Pingping Jiang, Min‐Xin Guan
Abstract
zebrafish recapitulated the clinical phenotypes in the optic neuropathy patients carrying the YARS2 mutations. Our findings highlighted the critical role of YARS2 in the stability and activity of OXPHOS and its pathological consequence in vision impairments.
Topics & Concepts
ZebrafishBiologyMitochondrionOxidative phosphorylationCell biologyRetinal degenerationNeurodegenerationRetinaRetinalBiochemistryNeuroscienceGeneMedicinePathologyDiseaseMitochondrial Function and PathologyCRISPR and Genetic EngineeringATP Synthase and ATPases Research