ArticleMolecular and cellular biology2019
Formation of tRNA Wobble Inosine in Humans Is Disrupted by a Millennia-Old Mutation Causing Intellectual Disability.
Article in Molecular and cellular biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 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
25 citing papers in PubMed, 63 citations in OpenAlex.
- Tissue-specific role of dTrmO in threonine decoding during Drosophila melanogaster development.Biological research · 2026Article
- The tRNA Editing Complex ADAT2/3 Promotes Cancer Cell Growth and Codon-biased mRNA Translation.Journal of molecular biology · 2025Article
- ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.Brain : a journal of neurology · 2025Article
- A-to-I mRNA editing recodes hundreds of genes in dozens of species and produces endogenous protein isoforms in bacteria.Nucleic acids research · 2025Article
- ADAT3-related neurodevelopmental disorder in 24 new patients with a high frequency of the p.Val144Met and a new founder variant.Scientific reports · 2025Article
- ADATs: roles in tRNA editing and relevance to disease.Acta biochimica et biophysica Sinica · 2024Review
- Proteolytic cleavage and inactivation of the TRMT1 tRNA modification enzyme by SARS-CoV-2 main protease.eLife · 2024Article
- Proteolytic cleavage and inactivation of the TRMT1 tRNA modification enzyme by SARS-CoV-2 main protease.bioRxiv : the preprint server for biology · 2024Article
- The life and times of a tRNA.RNA (New York, N.Y.) · 2023Review
- The Repertoire of RNA Modifications Orchestrates a Plethora of Cellular Responses.International journal of molecular sciences · 2023Review
- tRNA Modifications and Modifying Enzymes in Disease, the Potential Therapeutic Targets.International journal of biological sciences · 2023Review
- Destabilization of mutated human PUS3 protein causes intellectual disability.Human mutation · 2022Article
- The tRNA regulome in neurodevelopmental and neuropsychiatric disease.Molecular psychiatry · 2022Review
- The role of altered translation in intellectual disability and epilepsy.Progress in neurobiology · 2022Review
- Insight into ALKBH8-related intellectual developmental disability based on the first pathogenic missense variant.Human genetics · 2022Article
- Human transfer RNA modopathies: diseases caused by aberrations in transfer RNA modifications.The FEBS journal · 2021Review
- Human tRNAs with inosine 34 are essential to efficiently translate eukarya-specific low-complexity proteins.Nucleic acids research · 2021Article
- The structure of the mouse ADAT2/ADAT3 complex reveals the molecular basis for mammalian tRNA wobble adenosine-to-inosine deamination.Nucleic acids research · 2021Article
- Inosine in Biology and Disease.Genes · 2021Review
- High-Performance Near-Infrared Fluorescent Secondary Antibodies for Immunofluorescence.Analytical chemistry · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 3 institutions in 3 countries.
Funding
Abstract
The formation of inosine at the wobble position of eukaryotic tRNAs is an essential modification catalyzed by the ADAT2/ADAT3 complex. In humans, a valine-to-methionine mutation (V144M) in ADAT3 that originated ∼1,600 years ago is the most common cause of autosomal recessive intellectual disability (ID) in Arabia. While the mutation is predicted to affect protein structure, the molecular and cellular effects of the V144M mutation are unknown. Here, we show that cell lines derived from ID-affected individuals expressing only ADAT3-V144M exhibit decreased wobble inosine in certain tRNAs. Moreover, extracts from the same cell lines of ID-affected individuals display a severe reduction in tRNA deaminase activity. While ADAT3-V144M maintains interactions with ADAT2, the purified ADAT2/3-V144M complexes exhibit defects in activity. Notably, ADAT3-V144M exhibits an increased propensity to form aggregates associated with cytoplasmic chaperonins that can be suppressed by ADAT2 overexpression. These results identify a key role for ADAT2-dependent folding of ADAT3 in wobble inosine modification and indicate that proper formation of an active ADAT2/3 complex is crucial for proper neurodevelopment.
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.