Lu et al. report that PCBP1 safeguards AARS2 alternative splicing in the heart, and that loss of PCBP1 disrupts AARS2 splicing, leading to infantile mitochondrial cardiomyopathy. Loss of cardiac PCBP1 or AARS2 impairs oxidative phosphorylation and activates mitonuclear signaling and the unfolded protein response pathway.
- Yao Wei Lu
- Zhuomin Liang
- Da-Zhi Wang
