Associated Papers
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model.
Qiu Y et al.
Human Molecular Genetics, 2023
The Antiepileptic Valproic Acid Ameliorates Charcot-Marie-Tooth 2W (CMT2W) Disease-Associated HARS1 Mutation-Induced Inhibition of Neuronal Cell Morphological Differentiation Through c-Jun N-terminal Kinase.
Memezawa S et al.
Neurochemical Research, 2022
Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?
Zhang H et al.
Journal of Neurochemistry, 2021
CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS.
Sun L et al.
Proceedings of the National Academy of Sciences of the United States of America, 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
Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.
Wei N et al.
The Journal of Biological Chemistry, 2019
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Abbott JA et al.
Human Mutation, 2018
Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.
Oprescu SN et al.
Methods (san Diego, Calif.), 2017
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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