ArticleAmerican journal of human genetics2020
Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.
Article in American journal of human genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
What it found
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Who cites it
30 citing papers in PubMed, 49 citations in OpenAlex.
- ADAR-mediated RNA editing in CNS disorders: from pathogenic mechanisms to therapeutic opportunities.Cellular & molecular biology letters · 2026Review
- Knockdown of RNA editing proteins reshapes the HepaRG transcriptome and pharmacogene expression.Scientific reports · 2026Article
- Evolution of Engineered ADAR-Based RNA Editing Systems.International journal of molecular sciences · 2026Review
- TSniffer: unbiased de novo identification of RNA editing sites and quantification of editing activity in RNA-seq data.Genome biology · 2026Article
- Metabolic functions for molecular chaperones and stress proteins in microcephaly.Cellular and molecular life sciences : CMLS · 2025Review
- Novel ADAR2 variants in children with seizures, intellectual disability, and motor delay have reduced RNA editing.RNA (New York, N.Y.) · 2025Article
- Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease.Nature reviews. Genetics · 2025Review
- Landscape of A-I RNA editing in mouse, pig, macaque, and human brains.Nucleic acids research · 2025Article
- The diagnosis and treatment of disorders of nucleic acid/nucleotide metabolism associated with epilepsy.Acta epileptologica · 2025Review
- [Ring chromosome 21 syndrome: report of 2 cases].Revista medica del Instituto Mexicano del Seguro Social · 2025Article
- Charting and probing the activity of ADARs in human development and cell-fate specification.Nature communications · 2024Article
- ADAR Family Proteins: A Structural Review.Current issues in molecular biology · 2024Review
- Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.NPJ genomic medicine · 2024Article
- Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity.Genome medicine · 2023Article
- Review
- Heterogeneous RNA editing and influence of ADAR2 on mesothelioma chemoresistance and the tumor microenvironment.Molecular oncology · 2022Article
- ADAR2 enzymes: efficient site-specific RNA editors with gene therapy aspirations.RNA (New York, N.Y.) · 2022Review
- Targeting purine metabolism in ovarian cancer.Journal of ovarian research · 2022Review
- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.Journal of medical genetics · 2022Article
- Interplay between A-to-I Editing and Splicing of RNA: A Potential Point of Application for Cancer Therapy.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
20 authors at 11 institutions in 5 countries.
Funding
Abstract
The RNA editing enzyme ADAR2 is essential for the recoding of brain transcripts. Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2, in four unrelated individuals with microcephaly, intellectual disability, and epilepsy. In one individual, a homozygous variant in one of the double-stranded RNA-binding domains (dsRBDs) was identified. In the others, variants were situated in or around the deaminase domain. To evaluate the effects of these variants on ADAR2 enzymatic activity, we performed in vitro assays with recombinant proteins in HEK293T cells and ex vivo assays with fibroblasts derived from one of the individuals. We demonstrate that these ADAR2 variants lead to reduced editing activity on a known ADAR2 substrate. We also demonstrate that one variant leads to changes in splicing of ADARB1 transcript isoforms. These findings reinforce the importance of RNA editing in brain development and introduce ADARB1 as a genetic etiology in individuals with intellectual disability, microcephaly, and epilepsy.
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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.