How do FBXL4 mutations lead to #encephalomyopathic #mtDNA depletion syndrome 13?
Hui Jiang et al find increased #mitochondrial loss and perinatal lethality in Fbxl4 KO mice due to increased levels of #mitophagy receptors #BNIP3 and NIX targeted by SCF-#FBXL4 #ubiquitin ligase
#encephalomyopathic #mtdna #mitochondrial #mitophagy #bnip3 #fbxl4 #Ubiquitin