Article
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Human mutation - 1 Jan 2013
Vester Aimée, Velez-Ruiz Gisselle, McLaughlin Heather M, Lupski James R, Talbot Kevin, Vance Jeffery M, Züchner Stephan, Roda Ricardo H, Fischbeck Kenneth H, Biesecker Leslie G, Nicholson Garth, Beg Asim A, Antonellis Anthony
Abstract excerpt
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed enzymes responsible for ligating amino acids to cognate tRNA molecules. Mutations in four genes encoding an ARS have been implicated in inherited peripheral neuropathy with an axonal pathology, suggesting that all ARS genes are relevant candidates for disease in patients with related phenotypes. Here, we present results from a mutation screen of the...
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