ReviewInternational journal of cell biology2014
The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes.
Review in International journal of cell biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
83 citing papers in PubMed, 134 citations in OpenAlex.
- Therapeutic rescue of pathogenic asparaginyl-tRNA synthetase alleles.Molecular therapy. Nucleic acids · 2026Article
- Disruption of mitonuclear coadaptation and compensatory evolution after an extreme dietary shift in carnivorous butterflies.Molecular biology and evolution · 2026Article
- Genome-wide SNVs revealed reticulate evolutionary history of a Eurasian-African songbird radiation (Zoological research · 2026Article
- Role of mitochondrial translation in modulating inflammatory disease outcome: Current knowledge and future perspectives.The Journal of biological chemistry · 2026Review
- Adulthood depletion of Integrator extends lifespan and healthspan via defective pre-mRNA processing.bioRxiv : the preprint server for biology · 2026Article
- Genomic Analysis Suggests That Mitonuclear Coevolution Proceeds Over Rapid Timescales in the Amazonian Pipra Manakin Complex.Molecular ecology · 2025Article
- Intrafamilial Variability in WARS2-Related Disorder: A Family Case.Movement disorders clinical practice · 2025Article
- Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation inFrontiers in pediatrics · 2025Article
- Data augmentation based on the WGAN-GP with data block to enhance the prediction of genes associated with RNA methylation pathways.Scientific reports · 2024Article
- TARS2 c.470 C > G is a chinese-specific founder mutation in three unrelated families with mitochondrial encephalomyopathy.Orphanet journal of rare diseases · 2024Article
- RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.Molecular genetics & genomic medicine · 2024Review
- Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.BMC pediatrics · 2024Review
- Role of Mutations of Mitochondrial Aminoacyl-tRNA Synthetases Genes on Epileptogenesis.Molecular neurobiology · 2023Review
- High heterogeneity in genomic differentiation between phenotypically divergent songbirds: a test of mitonuclear co-introgression.Heredity · 2023Article
- Novel phenotype and genotype spectrum of NARS2 and literature review of previous mutations.Irish journal of medical science · 2022Review
- Mitochondrial Neurodegeneration.Cells · 2022Review
- Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.Clinical case reports · 2022Article
- Article
- Biallelic mutations in theHaematologica · 2021Article
- Two Novel Variants inJournal of clinical medicine · 2021Article
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mitochondrial respiratory chain (RC) disorders are a group of genetically and clinically heterogeneous diseases. This is because protein components of the RC are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis and maintenance of mitochondria, including mitochondrial DNA (mtDNA) replication, transcription, and translation, require nuclear-encoded genes. In the past decade, a growing number of syndromes associated with dysfunction of mtDNA translation have been reported. This paper reviews the current knowledge of mutations affecting mitochondrial aminoacyl tRNAs synthetases and their role in the pathogenic mechanisms underlying the different clinical presentations.
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.