Article
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.
Molecular and cellular neurosciences - 1 Feb 2011
Stum Morgane, McLaughlin Heather M, Kleinbrink Erica L, Miers Kathy E, Ackerman Susan L, Seburn Kevin L, Antonellis Anthony, Burgess Robert W
Abstract excerpt
Mutations in glycyl-, tyrosyl-, and alanyl-tRNA synthetases (GARS, YARS and AARS respectively) cause autosomal dominant Charcot-Marie-Tooth disease, and mutations in Gars cause a similar peripheral neuropathy in mice. Aminoacyl-tRNA synthetases (ARSs) charge amino acids onto their cognate tRNAs during translation; however, the pathological mechanism(s) of ARS mutations remains unclear. To address this, we tested...
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