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
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.
Accogli A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease.
Zheng WQ et al.
Human Molecular Genetics, 2022
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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