Characterization of HINT1 knockout Drosophila model for peripheral neuropathy. University of Antwerp
Recessive loss-of-function mutations in HINT1 rank among the leading causes of axonal peripheral neuropathy (Charcot-Marie-Tooth disease, CMT). They are associated with a severe, progressive and early-onset phenotype for which no curative treatment exists to date. HINT1 is a pleiotropic and evolutionary conserved purine phosphoramidase with unknown endogenous substrate(s) and its role in the peripheral nervous system is utterly unexplored. The ...