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
Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing.
Kim YG et al.
Brain Communications, 2023
Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.
Meyer AP et al.
Human Mutation, 2022
Therapeutic Potential of CKD-504, a Novel Selective Histone Deacetylase 6 Inhibitor, in a Zebrafish Model of Neuromuscular Junction Disorders.
Jeong HS et al.
Molecules and Cells, 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
Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene.
Huang Y et al.
Molecular Genetics & Genomic Medicine, 2022
Conformational sampling of CMT-2D associated GlyRS mutations.
Childers MC et al.
Brain Multiphysics, 2022
GARS-related disease in infantile spinal muscular atrophy: Implications for diagnosis and treatment.
Markovitz R et al.
American Journal of Medical Genetics. Part A, 2020
Genetic and Clinical Features in 24 Chinese Distal Hereditary Motor Neuropathy Families.
Xie Y et al.
Frontiers in 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
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons.
Boczonadi V et al.
Human Molecular Genetics, 2018
Aberrant GlyRS-HDAC6 interaction linked to axonal transport deficits in Charcot-Marie-Tooth neuropathy.
Mo Z et al.
Nature Communications, 2018
A Novel Mutation of GARS in a Chinese Family With Distal Hereditary Motor Neuropathy Type V.
Yu X et al.
Frontiers in Neurology, 2018
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
The insertion domain 1 of class IIA dimeric glycyl-tRNA synthetase is a rubredoxin-like zinc ribbon.
Kaur G et al.
Journal of Structural Biology, 2015
[A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement].
Kawakami N et al.
Rinsho Shinkeigaku = Clinical Neurology, 2014
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type V.
Lee HJ et al.
Journal of the Peripheral Nervous System : Jpns, 2012
Dispersed disease-causing neomorphic mutations on a single protein promote the same localized conformational opening.
He W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
GARS axonopathy: not every neuron's cup of tRNA.
Motley WW et al.
Trends in Neurosciences, 2010
Crystal structure of human wildtype and S581L-mutant glycyl-tRNA synthetase, an enzyme underlying distal spinal muscular atrophy.
Cader MZ et al.
Febs Letters, 2007
An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Achilli F et al.
Disease Models & Mechanisms, 0