ReviewFEBS letters2021
The molecular pathology of pathogenic mitochondrial tRNA variants.
Review in FEBS letters, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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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
34 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Mitochondrial DNA mutations in head and neck squamous cell carcinoma: a systematic review and meta-analysis.BMC cancer · 2025Pooled it
- Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutation.Brain : a journal of neurology · 2025Trial
- MRPS22 variants alter mitochondrial ribosome assembly in patients with leukodystrophy, movement disorder and intellectual impairment.Human molecular genetics · 2026Article
- tRNA modifications in cancer: from molecular mechanisms to clinical translation.Biomarker research · 2026Review
- Clinical Validation of Digital PCR for Precise m.3243A>G Heteroplasmy Quantification in Early-Onset Diabetes.Journal of diabetes research · 2026Article
- Mitochondrial tRNA-Derived Diseases.International journal of molecular sciences · 2025Review
- Contrastive hypergraph collaborative filtering for transfer RNA-disease association prediction.Briefings in bioinformatics · 2025Article
- The m.3290T > C variant might be a protective factor against the pathogenic m.3243 A > G variant: a case study.Orphanet journal of rare diseases · 2025Article
- Overview of neuroimaging in primary mitochondrial disorders.Pediatric radiology · 2025Review
- Novel pathogenic mtDNA variants in Chinese children with neurological mitochondrial disorders.Annals of clinical and translational neurology · 2025Article
- Association of maternal metabolic conditions with mitochondrial DNA copy number in cord blood.Precision nutrition · 2025Article
- Mitochondrial DNA variants in the pathogenesis and metabolic alterations of diabetes mellitus.Molecular genetics and metabolism reports · 2025Review
- MitochondrialInternational journal of molecular sciences · 2025Article
- Macular OCT inner retinal changes reflect CNS involvement in m.3243A>G disease.BMJ neurology open · 2025Article
- Post-transcriptional methylation of mitochondrial-tRNA differentially contributes to mitochondrial pathology.Nature communications · 2024Article
- A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAJournal of human genetics · 2024Article
- Mitochondrial protein synthesis quality control.Human molecular genetics · 2024Review
- Maternally Inherited Essential Hypertension May Be Associated with the Mutations in Mitochondrial tRNAPharmacogenomics and personalized medicine · 2024Article
- Madelung disease with postoperative priapism and multiple venous thromboses: case report and literature review.Frontiers in cardiovascular medicine · 2024Article
- Mitochondrial RNA maturation.RNA biology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
Mitochondrial diseases are clinically and genetically heterogeneous disorders, caused by pathogenic variants in either the nuclear or mitochondrial genome. This heterogeneity is particularly striking for disease caused by variants in mitochondrial DNA-encoded tRNA (mt-tRNA) genes, posing challenges for both the treatment of patients and understanding the molecular pathology. In this review, we consider disease caused by the two most common pathogenic mt-tRNA variants: m.3243A>G (within MT-TL1, encoding mt-tRNA
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Registered trials
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