[HTML][HTML] Neurodegenerative Charcot–Marie–Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases

N Wei, Q Zhang, XL Yang - Journal of Biological Chemistry, 2019 - ASBMB
Aminoacyl-tRNA synthetases (aaRSs) are essential enzymes that catalyze the first reaction
in protein biosynthesis, namely the charging of transfer RNAs (tRNAs) with their cognate
amino acids. aaRSs have been increasingly implicated in dominantly and recessively
inherited human diseases. The most common aaRS-associated monogenic disorder is the
incurable neurodegenerative disease Charcot–Marie–Tooth neuropathy (CMT), caused by
dominant mono-allelic mutations in aaRSs. With six currently known members (GlyRS …