ArticleNature communications2021
Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype.
Article in Nature communications, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Genetics of autism spectrum disorder: an umbrella review of systematic reviews and meta-analyses.Translational psychiatry · 2022Pooled it
- An engineered exosome-based platform for targeted delivery to endogenous neural stem cells and fate modulation after spinal cord injury.Materials today. Bio · 2026Article
- Article
- Involvement of tRNA thiolation in uORF-mediated translational regulation during Xylogenesis in Arabidopsis thaliana.Plant & cell physiology · 2026Article
- TRIAGE Toolkit: Streamlined Discovery of Regulatory Genes and Elements.Current protocols · 2026Article
- Organophosphate Flame Retardants Disrupt Autism-Relevant Gene Networks Across Development: A Cross-Species Multi-Omics Study.Environmental research · 2025Article
- Autophosphorylation of conserved yeast and human casein kinase 1 isozymes regulates Elongator-dependent tRNA modifications.Nucleic acids research · 2025Article
- ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.Brain : a journal of neurology · 2025Article
- Genetic modeling of ELP1-associated Sonic hedgehog medulloblastoma identifies MDM2 as a selective therapeutic target.Cancer cell · 2025Article
- TRIAGE: an R package for regulatory gene analysis.Briefings in bioinformatics · 2025Article
- Article
- tRNA Modifications and Dysregulation: Implications for Brain Diseases.Brain sciences · 2024Review
- Cryo-EM structures of the human Elongator complex at work.Nature communications · 2024Article
- Evolutionary Conservation in Protein-Protein Interactions and Structures of the Elongator Sub-Complex ELP456 fromInternational journal of molecular sciences · 2024Article
- Article
- The conserved wobble uridine tRNA thiolase Ctu1 is required for angiogenesis and embryonic development.PloS one · 2024Article
- Dysregulation of the Wnt/β-catenin signaling pathway via Rnf146 upregulation in a VPA-induced mouse model of autism spectrum disorder.Experimental & molecular medicine · 2023Article
- A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.Journal of human genetics · 2023Article
- Cryo-EM structure of the fully assembled Elongator complex.Nucleic acids research · 2023Article
- Elongator and the role of its subcomplexes in human diseases.EMBO molecular medicine · 2023Review
Corrections and comments
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Authors and funding
40 authors at 12 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common neurodevelopmental disorders and are characterized by substantial impairment in intellectual and adaptive functioning, with their genetic and molecular basis remaining largely unknown. Here, we identify biallelic variants in the gene encoding one of the Elongator complex subunits, ELP2, in patients with ID and ASD. Modelling the variants in mice recapitulates the patient features, with brain imaging and tractography analysis revealing microcephaly, loss of white matter tract integrity and an aberrant functional connectome. We show that the Elp2 mutations negatively impact the activity of the complex and its function in translation via tRNA modification. Further, we elucidate that the mutations perturb protein homeostasis leading to impaired neurogenesis, myelin loss and neurodegeneration. Collectively, our data demonstrate an unexpected role for tRNA modification in the pathogenesis of monogenic ID and ASD and define Elp2 as a key regulator of brain development.
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