Associated Papers
TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.
Zhang S et al.
Orphanet Journal of Rare Diseases, 2024
39394138 (PubMed )
Supplement: 13023_2024_3365_MOESM1_ESM.xlsx › supplementary_table
TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review.
Gao X et al.
Neuropediatrics, 2024
Mammalian mitochondrial translation infidelity leads to oxidative stress-induced cell cycle arrest and cardiomyopathy.
Zheng WQ et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Mitochondrial translational defect extends lifespan in C. elegans by activating UPRmt.
Guo M et al.
Redox Biology, 2023
Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
He P et al.
American Journal of Medical Genetics. Part A, 2023
Cancer-driving mutations are enriched in genic regions intolerant to germline variation.
Vitsios D et al.
Science Advances, 2022
36026442 (PubMed )
Supplement: sciadv.abo6371_tables_s1_to_s13.zip › sciadv.abo6371_tables_s1_to_s13.xlsx › S2
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Zheng WQ et al.
Human Molecular Genetics, 2022
Mitochondrial Aminoacyl-tRNA Synthetase and Disease: The Yeast Contribution for Functional Analysis of Novel Variants.
Figuccia S et al.
International Journal of Molecular Sciences, 2021
Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report.
Li X et al.
Bmc Medical Genetics, 2020
A Human Disease-causing Point Mutation in Mitochondrial Threonyl-tRNA Synthetase Induces Both Structural and Functional Defects.
Wang Y et al.
The Journal of Biological Chemistry, 2016
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.
Diodato D et al.
Human Mutation, 2014
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Diodato D et al.
International Journal of Cell Biology, 2014
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