Associated Papers
Characterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W.
Wilhelm SDP et al.
Iubmb Life, 2024
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model.
Qiu Y et al.
Human Molecular Genetics, 2023
The uniqueness of AlaRS and its human disease connections.
Zhang H et al.
Rna Biology, 2021
Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?
Zhang H et al.
Journal of Neurochemistry, 2021
Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.
Vinogradova ES et al.
Biochemistry. Biokhimiia, 2021
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
Royer-Bertrand B et al.
Annals of Clinical and Translational Neurology, 2019
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Abbott JA et al.
Human Mutation, 2018
Peripheral neuropathy via mutant tRNA synthetases: Inhibition of protein translation provides a possible explanation.
Storkebaum E
Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology, 2016
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
Safka Brozkova D et al.
Brain : a Journal of Neurology, 2015
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