Characterization of a novel pathomechanism causing Charcot-Marie-Tooth disease and its therapeutic targeting. University of Antwerp
Aminoacyl-tRNA synthetases are essential enzymes, governing the precise translation of genetic information into proteins. Mutations in six of them lead to different subtypes of Charcot-Marie-Tooth disease (CMT), the most common inherited peripheral neuropathy. We established that Dominant Intermediate CMT type C (DI-CMTC) is caused by genetic defects in tyrosyl-tRNA synthetase (YARS). It is challenging to understand how mutations in this ...