Associated Papers
Replating induces mTOR-dependent rescue of protein synthesis in Charcot-Marie-Tooth diseased neurons.
Koenig J et al.
Biorxiv : the Preprint Server for Biology, 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
Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy.
Rhymes ER et al.
Neurobiology of Disease, 2024
Boosting BDNF in muscle rescues impaired axonal transport in a mouse model of DI-CMTC peripheral neuropathy.
Rhymes ER et al.
Biorxiv : the Preprint Server for Biology, 2024
Distal hereditary motor neuropathy due to a novel YARS1 gene pathogenic variant.
Llauradó A et al.
Muscle & Nerve, 2023
Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling.
Ermanoska B et al.
Nature Communications, 2023
Dominant aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models.
Kalotay E et al.
Frontiers in Neuroscience, 2023
A missense, loss-of-function YARS1 variant in a patient with proximal-predominant motor neuropathy.
Forrest ME et al.
Cold Spring Harbor Molecular Case Studies, 2022
Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.
Hines TJ et al.
Journal of Anatomy, 2022
Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.
Giesen N et al.
Haematologica, 2022
The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L et al.
Journal of Molecular Medicine (berlin, Germany), 2021
Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.
Averdunk L et al.
Journal of Molecular Medicine (berlin, Germany), 2021
Drosophila Models for Charcot-Marie-Tooth Neuropathy Related to Aminoacyl-tRNA Synthetases.
Morant L et al.
Genes, 2021
The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy.
Spaulding EL et al.
Science (new York, N.y.), 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
Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.
Mullen P et al.
The Febs Journal, 2021
YARS as an oncogenic protein that promotes gastric cancer progression through activating PI3K-Akt signaling.
Zhang C et al.
Journal of Cancer Research and Clinical Oncology, 2020
Longitudinal 16-year study of dominant intermediate CMT type C neuropathy.
Pan Y et al.
Muscle & Nerve, 2020
Transcriptional dysregulation by a nucleus-localized aminoacyl-tRNA synthetase associated with Charcot-Marie-Tooth neuropathy.
Bervoets S et al.
Nature Communications, 2019
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS.
Tracewska-Siemiątkowska A et al.
Genes, 2017
Alternative stable conformation capable of protein misinteraction links tRNA synthetase to peripheral neuropathy.
Blocquel D et al.
Nucleic Acids Research, 2017
Anatomical distributional defects in mutant genes associated with dominant intermediate Charcot-Marie-Tooth disease type C in an adenovirus-mediated mouse model.
Lee S et al.
Neural Regeneration Research, 2017
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.
Nowaczyk MJ et al.
American Journal of Medical Genetics. Part A, 2017
Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis.
Li LX et al.
Oncotarget, 2016
Clinical, neurophysiological and morphological study of dominant intermediate Charcot-Marie-Tooth type C neuropathy.
Thomas FP et al.
Journal of Neurology, 2016
[Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Fu X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Evolutionary and structural annotation of disease-associated mutations in human aminoacyl-tRNA synthetases.
Datt M et al.
Bmc Genomics, 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
Drosophila as a platform to predict the pathogenicity of novel aminoacyl-tRNA synthetase mutations in CMT.
Leitão-Gonçalves R et al.
Amino Acids, 2012
Dominant Intermediate Charcot-Marie-Tooth disorder is not due to a catalytic defect in tyrosyl-tRNA synthetase.
Froelich CA et al.
Biochemistry, 2011
Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot-Marie-Tooth neuropathy.
Storkebaum E et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy.
Jordanova A et al.
Nature Genetics, 2006
[COMPUTATIONAL MODELING OF MOLECULAR DYNAMICS OF G41R MUTANT FORM OF HUMAN TYROSYL-tRNA SYNTHETASE, ASSOSIATED WITH CHARCOT-MARIE-TOOTH NEUROPATHY].
Savytskyi OV et al.
Ukrainian Biochemical Journal, 0