APE1 co-precipitates more with nucleophosmin (NPM1) in C9orf72 patient tissue lysates compared to controls (Farg et al., 2017), and overexpression of NPM1 inhibits apoptosis in neuronal cells expressing poly GR 100 and poly PR 100 (Farg et al., 2017)
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Here we use urinary extracellular vesicles (EVs), RNA sequencing, droplet digital PCR, and predictive modeling to identify downregulation of metabolism transcripts Phosphoenolpyruvate carboxykinase-1 , 4-Hydroxyphenylpyruvate dioxygenase , Dihydropyrimidinase , Glutathione S-transferase alpha-1 , Aminoacylase-1 , and Electron transfer flavoprotein B in DM1