Associated Papers
The role of Alanyl-tRNA synthetase 1 lactylation in tumors and other diseases.
Zhou XY et al.
Discover Oncology, 2026
Recessive, pathogenic AARS1 variants display variable loss-of-function and dominant-negative effects.
Kuo ME et al.
Disease Models & Mechanisms, 2025
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
Evaluation of the Role of Tanshinone I in an In Vitro System of Charcot-Marie-Tooth Disease Type 2N.
Zhang J et al.
International Journal of Molecular Sciences, 2024
Comprehensive assessment of recessive, pathogenic AARS1 alleles in a humanized yeast model reveals loss-of-function and dominant-negative effects.
Kuo ME et al.
Biorxiv : the Preprint Server for Biology, 2024
A humanized yeast model reveals dominant-negative properties of neuropathy-associated alanyl-tRNA synthetase mutations.
Meyer-Schuman R et al.
Human Molecular Genetics, 2023
An AARS1 variant identified to cause adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia.
Wu J et al.
Translational Neurodegeneration, 2023
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 2023
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
Clinical characteristics and proteome modifications in two Charcot-Marie-Tooth families with the AARS1 Arg326Trp mutation.
Høyer H et al.
Bmc Neurology, 2022
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S et al.
Journal of Clinical Medicine, 2022
Variants of aminoacyl-tRNA synthetase genes in Charcot-Marie-Tooth disease: A Korean cohort study.
Nam DE et al.
Journal of the Peripheral Nervous System : Jpns, 2022
The uniqueness of AlaRS and its human disease connections.
Zhang H et al.
Rna Biology, 2021
A stress-free strategy to correct point mutations in patient iPS cells.
Cai J et al.
Stem Cell Research, 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
The expanding genetic landscape of hereditary motor neuropathies.
Beijer D et al.
Brain : a Journal of Neurology, 2020
Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy.
Lee AJ et al.
Genes & Genomics, 2020
Yield of next-generation neuropathy gene panels in axonal neuropathies.
Lee DC et al.
Journal of the Peripheral Nervous System : Jpns, 2019
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
Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain).
Lousa M et al.
Journal of the Peripheral Nervous System : Jpns, 2019
The role of tRNA synthetases in neurological and neuromuscular disorders.
Boczonadi V et al.
Febs Letters, 2018
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Nakayama T et al.
Human Mutation, 2017
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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
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
A novel AARS mutation in a family with dominant myeloneuropathy.
Motley WW et al.
Neurology, 2015
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation.
Euro L et al.
Frontiers in Genetics, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 2014
Genetics of Charcot-Marie-Tooth (CMT) Disease within the Frame of the Human Genome Project Success.
Timmerman V et al.
Genes, 2014
To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.
Wallen RC et al.
Current Opinion in Genetics & Development, 2013
Alanyl-tRNA synthetase mutation in a family with dominant distal hereditary motor neuropathy.
Zhao Z et al.
Neurology, 2012
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
Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.
Ajroud-Driss S et al.
Current Neurology and Neuroscience Reports, 2011
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.
Stum M et al.
Molecular and Cellular Neurosciences, 2011
The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
Lin KP et al.
Plos One, 2011
A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease.
Latour P et al.
American Journal of Human Genetics, 2010
From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.
Scherrer C et al.
Journal of Tissue Engineering, 0