ReviewFrontiers in physiology2022
Aminoacyl-tRNA synthetases in human health and disease.
Review in Frontiers in physiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers.
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Who cites it
53 citing papers in PubMed.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- AARS1-mediated lactylation reprograms macrophage lipid metabolism to restrict antitumor immunity.Journal for immunotherapy of cancer · 2026Article
- Advances in Research onGenes · 2026Review
- Human aminoacyl-tRNA synthetases as integrators of translation and cell signalling networks.Nature reviews. Molecular cell biology · 2026Review
- Comprehensive Insights into Perrault Syndrome: Genetic Diversity and Clinical Implications.Reproductive sciences (Thousand Oaks, Calif.) · 2026Review
- Linking childhood interstitial lung disease to IARS-related disorder: clinical and preliminary functional studies in four new cases.Human genomics · 2026Article
- Adaptive survival strategies of Acinetobacter baumannii under different classes of antibiotic stress revealed through transcriptomic profiling.Archives of microbiology · 2026Article
- tRNA synthetase activity is required for stress granule and P-body assembly.Genes & development · 2026Article
- A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.European journal of human genetics : EJHG · 2026Article
- Seminal Plasma Metabolomic Profiling Reveals Key Metabolic Signatures Linked to Spermatogenic Potential in Non-Obstructive Azoospermia with Cryptorchidism.Metabolites · 2026Article
- ADAM-tRNA-seq: an optimized approach for demultiplexing and enhanced hierarchal mapping in direct tRNA sequencing.Nucleic acids research · 2026Article
- Isoleucyl-tRNA synthetase 1 is essential for embryogenesis in mice.The Journal of veterinary medical science · 2026Article
- AAV9-DARS2 Gene Therapy Rescues Phenotype in Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Patient Cells and Neuronal Dars2 Deficient Mice.Annals of neurology · 2026Article
- Changes in Serum Proteins in Firefighters Responding to the 2025 Los Angeles Urban Conflagrations.Journal of occupational and environmental medicine · 2026Article
- Intracerebroventricular infusion of exercise donor plasma exosomes induces molecular changes indicating exercise-like adaptations in basal ganglia cells of older male rats.Frontiers in aging neuroscience · 2026Article
- First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain ofInternational journal of molecular sciences · 2025Article
- Comparative analysis of metabolite and microbial community dynamics during spontaneous fermentation ofFood chemistry: X · 2025Article
- Novel Variants in VARS2 Demonstrate the Phenotypic Variability of a Rare Mitochondriopathy That Responds to Valine Supplementation.Journal of inherited metabolic disease · 2025Article
- Transfer RNA and small molecule therapeutics for aminoacyl-tRNA synthetase diseases.The FEBS journal · 2025Review
- Serine mistranslation induces the integrated stress response through the P stalk.The Journal of biological chemistry · 2025Article
Corrections and comments
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Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The Aminoacyl-tRNA Synthetases (aaRSs) are an evolutionarily ancient family of enzymes that catalyze the esterification reaction linking a transfer RNA (tRNA) with its cognate amino acid matching the anticodon triplet of the tRNA. Proper functioning of the aaRSs to create aminoacylated (or "charged") tRNAs is required for efficient and accurate protein synthesis. Beyond their basic canonical function in protein biosynthesis, aaRSs have a surprisingly diverse array of non-canonical functions that are actively being defined. The human genome contains 37 genes that encode unique aaRS proteins. To date, 56 human genetic diseases caused by damaging variants in aaRS genes have been described: 46 are autosomal recessive biallelic disorders and 10 are autosomal dominant monoallelic disorders. Our appreciation of human diseases caused by damaging genetic variants in the aaRSs has been greatly accelerated by the advent of next-generation sequencing, with 89% of these gene discoveries made since 2010. In addition to these genetic disorders of the aaRSs, anti-synthetase syndrome (ASSD) is a rare autoimmune inflammatory myopathy that involves the production of autoantibodies that disrupt aaRS proteins. This review provides an overview of the basic biology of aaRS proteins and describes the rapidly growing list of human diseases known to be caused by genetic variants or autoimmune targeting that affect both the canonical and non-canonical functions of these essential proteins.
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