A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

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 ca...

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Bibliographic Details
Main Authors: Vester, A, Velez-Ruiz, G, McLaughlin, H, Nisc, C, Lupski, JR, Talbot, K, Vance, J, Züchner, S, Roda, R, Fischbeck, K, Biesecker, L, Nicholson, G, Beg, A, Antonellis, A
Format: Journal article
Language:English
Published: 2013