Article
To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.
Current opinion in genetics & development - 1 Jun 2013
Wallen Rachel C, Antonellis Anthony
Abstract excerpt
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes responsible for the first step of protein translation--attaching amino acids to cognate tRNA molecules. Interestingly, ARS gene mutations have been implicated in tissue-specific human diseases, including inherited peripheral neuropathies. To date, five loci encoding an ARS have been implicated in peripheral neuropathy, and alleles at...
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