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
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
Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.
Mullen P et al.
The Febs Journal, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years.
Lahoz Alonso R et al.
Advances in Laboratory Medicine, 2020
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
Royer-Bertrand B et al.
Annals of Clinical and Translational Neurology, 2019
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