Associated Papers
Yeast models for Charcot-Marie-Tooth disease-causing aminoacyl-tRNA synthetase alleles reveal the cellular basis of disease.
Mahmood M et al.
Iubmb Life, 2025
An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia.
Wu J et al.
Translational Neurodegeneration, 2023
37106376 (PubMed )
Supplement: 40035_2023_353_MOESM1_ESM.pdf
Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models.
Kalotay E et al.
Frontiers in Neuroscience, 2023
Alanyl-tRNA Synthetase 1 Gene Variants in Hereditary Neuropathy: Genotype and Phenotype Overview.
Setlere S et al.
Neurology. Genetics, 2022
The uniqueness of AlaRS and its human disease connections.
Zhang H et al.
Rna Biology, 2021
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
Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ et al.
Genes & Genomics, 2020
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
Sundal C et al.
Acta Neuropathologica Communications, 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
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
Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.
Bansagi B et al.
Journal of Neurology, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N).
McLaughlin HM et al.
Human Mutation, 2012
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