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
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
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
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
CMT2D neuropathy is linked to the neomorphic binding activity of glycyl-tRNA synthetase.
He W et al.
Nature, 2015
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
Liao YC et al.
Plos One, 2015
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
Griffin LB et al.
Human Mutation, 2014
[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
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
The GARS gene is rarely mutated in Japanese patients with Charcot-Marie-Tooth neuropathy.
Abe A et al.
Journal of Human Genetics, 2009
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
[Molecular basis of Charcot-Marie-Tooth neuropathy].
Hayasaka K
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1996
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