Associated Papers
Recessive AARS1 variants perturb human and mouse development.
Watts JL et al.
Hgg Advances, 2026
Optimizing gRNA selection for high-penetrance F0 CRISPR screening for interrogating disease gene function.
Lin SJ et al.
Nucleic Acids Research, 2025
40103232 (PubMed )
Supplement: gkaf180_supplemental_files.zip › Table_S3.xlsx › Table_S3
Chronic BMAA exposure combined with TDP-43 mutation elicits motor neuron dysfunction phenotypes in mice.
Arnold FJ et al.
Neurobiology of Aging, 2023
Genetic Interaction of tRNA-Dependent Mistranslation with Fused in Sarcoma Protein Aggregates.
Lant JT et al.
Genes, 2023
Recessive aminoacyl-tRNA synthetase disorders: lessons learned from in vivo disease models.
Kalotay E et al.
Frontiers in Neuroscience, 2023
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
An AARS variant as the likely cause of Swedish type hereditary diffuse leukoencephalopathy with spheroids.
Sundal C et al.
Acta Neuropathologica Communications, 2019
ANKRD16 prevents neuron loss caused by an editing-defective tRNA synthetase.
Vo MN et al.
Nature, 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
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
An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.
Stum M et al.
Molecular and Cellular Neurosciences, 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
Errors in translation cause selective neurodegeneration.
Rochet JC
Acs Chemical Biology, 2006
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration.
Lee JW et al.
Nature, 2006
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