Jiaxin Chelsy Li

Research/Areas of Interest

Charcot-Marie-Tooth disease (CMT) is a spectrum of inherited disorders that damage the peripheral nerves. A subtype of this disease, CMT2D, is known to be caused by missense mutations in the GARS (glycyl‐tRNA synthetase) gene. GARS is a housekeeping protein that charges glycine onto the corresponding tRNA to make building blocks for protein translation. However, mutant GARS can stall working ribosomes, block the translation and lead to degeneration of motor neurons. We are interested in explaining the neuronal specificity of the effects of GARS mutation, and my current research focuses on investigating the cell-type-specific difference in human tRNA expression.