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
Modeling of Charcot-Marie-Tooth disease in zebrafish.
Korzeniowska Née Wiweger M et al.
Frontiers in Molecular Neuroscience, 2025
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
ConVarT: Search Engine for Missense Variants Between Humans and Other Organisms.
Pir MS et al.
Current Protocols, 2022
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification.
Delmaghani S et al.
Human Genetics, 2022
Aminoacyl-tRNA synthetases in Charcot-Marie-Tooth disease: A gain or a loss?
Zhang H et al.
Journal of Neurochemistry, 2021
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
Evidence for a dominant-negative mechanism in HARS1-mediated peripheral neuropathy.
Meyer-Schuman R et al.
The Febs Journal, 2021
Associations between Neurological Diseases and Mutations in the Human Glycyl-tRNA Synthetase.
Vinogradova ES et al.
Biochemistry. Biokhimiia, 2021
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
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
Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.
Tiwari A et al.
Scientific Reports, 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
A loss-of-function variant in the human histidyl-tRNA synthetase (HARS) gene is neurotoxic in vivo.
Vester A et al.
Human Mutation, 2013
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