ReviewCurrent opinion in genetics & development2013
To charge or not to charge: mechanistic insights into neuropathy-associated tRNA synthetase mutations.
Review in Current opinion in genetics & development, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
29 citing papers in PubMed, 48 citations in OpenAlex.
- Advances in Research onGenes · 2026Review
- GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy.Scientific reports · 2025Article
- Case report: Infantile pulmonary alveolar proteinosis associated with cytosolic isoleucyl-tRNA synthetase deficiency.Frontiers in pharmacology · 2025Article
- Characterization of a novel heterozygous variant in the histidyl-tRNA synthetase gene associated with Charcot-Marie-Tooth disease type 2W.IUBMB life · 2024Article
- Increased cysteinyl-tRNA synthetase drives neuroinflammation in Alzheimer's disease.Translational neurodegeneration · 2024Article
- Leukoencephalopathy hypomyelination with brainstem and spinal cord involvement and leg spasticity caused byFrontiers in genetics · 2022Review
- Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.The FEBS journal · 2021Article
- Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome.Human mutation · 2020Article
- A Yeast-Based Model for Hereditary Motor and Sensory Neuropathies: A Simple System for Complex, Heterogeneous Diseases.International journal of molecular sciences · 2020Review
- Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.Brain research · 2020Review
- The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.Frontiers in cellular neuroscience · 2020Review
- Neurodegenerative Charcot-Marie-Tooth disease as a case study to decipher novel functions of aminoacyl-tRNA synthetases.The Journal of biological chemistry · 2019Review
- Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes.Neurology. Genetics · 2019Article
- A Novel Mutation in MARS in a Patient with Charcot-Marie-Tooth Disease, Axonal, Type 2U with Congenital Onset.Journal of neuromuscular diseases · 2019Article
- Translation deregulation in human disease.Nature reviews. Molecular cell biology · 2018Review
- Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology.Journal of inherited metabolic disease · 2018Review
- Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.European journal of human genetics : EJHG · 2018Article
- Bi-allelic IARS mutations in a child with intra-uterine growth retardation, neonatal cholestasis, and mild developmental delay.Clinical genetics · 2017Article
- A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.Brain : a journal of neurology · 2017Article
- Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations.Methods (San Diego, Calif.) · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
Aminoacyl-tRNA synthetases (ARSs) are ubiquitously expressed, essential enzymes responsible for the first step of protein translation--attaching amino acids to cognate tRNA molecules. Interestingly, ARS gene mutations have been implicated in tissue-specific human diseases, including inherited peripheral neuropathies. To date, five loci encoding an ARS have been implicated in peripheral neuropathy, and alleles at each locus show loss-of-function characteristics. The majority of the phenotypes are autosomal dominant, and each of the implicated enzymes acts as an oligomer, indicating that a dominant-negative effect should be considered. On the basis of current data, impaired tRNA charging is likely to be a central component of ARS-related neuropathy. Future efforts should focus on testing this notion and developing strategies for restoring ARS function in the peripheral nerve.
Indexed as
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.