GeneticsbioRxivPreprint
Patient-derived phosphoribosyl pyrophosphate synthetase mutations in Drosophila result in autophagy and lysosome dysfunction
Keemo Delos Santos, Christine Yergeau, Nam-Sung Moon
This study shows that patient-derived PRPS mutations in Drosophila cause autophagy and lysosome dysfunction, leading to sensitivity to nutrient deprivation and oxidative stress.
DOI 10.1101/438747