Associated Papers
Inhibition of the integrated stress response rescues a histidyl-tRNA synthetase variant associated with Charcot-Marie-Tooth disease.
Mahmood M et al.
Nar Molecular Medicine, 2026
Transfer RNA supplementation rescues HARS deficiency in a humanized yeast model of Charcot-Marie-Tooth disease.
Wilhelm SDP et al.
Nucleic Acids Research, 2024
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model.
Qiu Y et al.
Human Molecular Genetics, 2023
Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?
Zhang H et al.
Journal of Neurochemistry, 2021
CMT disease severity correlates with mutation-induced open conformation of histidyl-tRNA synthetase, not aminoacylation loss, in patient cells.
Blocquel D et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
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
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