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
Aminoacyl-tRNA synthetase defects in neurological diseases.
Zhang H et al.
Iubmb Life, 2025
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
Gcn2 structurally mimics and functionally repurposes the HisRS enzyme for the integrated stress response.
Bou-Nader C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Histidine supplementation can escalate or rescue HARS deficiency in a Charcot-Marie-Tooth disease model.
Qiu Y et al.
Human Molecular Genetics, 2023
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
Usher Syndrome: Genetics and Molecular Links of Hearing Loss and Directions for Therapy.
Whatley M et al.
Frontiers in Genetics, 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
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Abbott JA et al.
Human Mutation, 2018
The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity.
Abbott JA et al.
Biochemistry, 2017
Genetic mapping and exome sequencing identify variants associated with five novel diseases.
Puffenberger EG et al.
Plos One, 2012
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