ArticleAmerican journal of human genetics2017
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
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Who cites it
58 citing papers in PubMed, 87 citations in OpenAlex.
- Error-prone translation as a driver of proteostasis collapse and neurodegeneration.Neural regeneration research · 2026Article
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- rRNA intermediates associate with nucleolar reshaping in C. elegans.Nucleic acids research · 2026Article
- Collision-induced ribosome degradation driven by ribosome competition and translational perturbations.Nature communications · 2025Article
- Larp1 supports brain growth and spatial memory via post-transcriptional control of the translation machinery.bioRxiv : the preprint server for biology · 2025Article
- OGFOD1 enables AML chemo- and nutrient stress resistance by regulating protein synthesis.Cell metabolism · 2025Article
- Ribosome biogenesis: A central player in liver diseases.Genes & diseases · 2025Review
- Shank3 modulates Rpl3 expression and protein synthesis via mGlu5: implications for Phelan McDermid syndrome.Molecular psychiatry · 2025Article
- Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025Review
- Built differently or defective: can RNA exosomopathies cause ribosome heterogeneity?Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Review
- Differential impacts of ribosomal protein haploinsufficiency on mitochondrial function.The Journal of cell biology · 2025Article
- Ribosome plasticity in glioblastoma: a multi-omics framework for future investigation.Frontiers in genetics · 2025Review
- An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants.JCI insight · 2024Article
- Cytosolic Ribosomal Protein Haploinsufficiency affects Mitochondrial Morphology and Respiration.bioRxiv : the preprint server for biology · 2024Article
- Potentials of ribosomopathy gene as pharmaceutical targets for cancer treatment.Journal of pharmaceutical analysis · 2024Review
- Single-cell proteo-genomic reveals a comprehensive map of centrosome-associated spliceosome components.iScience · 2023Article
- Nucleolar stress: Molecular mechanisms and related human diseases.Cancer science · 2023Review
- Single-nucleus gene and gene set expression-based similarity network fusion identifies autism molecular subtypes.BMC bioinformatics · 2023Article
- Proteomic and Bioinformatic Tools to Identify Potential Hub Proteins in the Audiogenic Seizure-Prone Hamster GASH/Sal.Diagnostics (Basel, Switzerland) · 2023Article
- Qualitative lysine crotonylation and 2-hydroxyisobutyrylation analysis in the ovarian tissue proteome of piglets.Frontiers in cell and developmental biology · 2023Article
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Authors and funding
20 authors at 7 institutions in 5 countries.
Funding
Abstract
Ribosomal protein (RP) gene mutations, mostly associated with inherited or acquired bone marrow failure, are believed to drive disease by slowing the rate of protein synthesis. Here de novo missense mutations in the RPS23 gene, which codes for uS12, are reported in two unrelated individuals with microcephaly, hearing loss, and overlapping dysmorphic features. One individual additionally presents with intellectual disability and autism spectrum disorder. The amino acid substitutions lie in two highly conserved loop regions of uS12 with known roles in maintaining the accuracy of mRNA codon translation. Primary cells revealed one substitution severely impaired OGFOD1-dependent hydroxylation of a neighboring proline residue resulting in 40S ribosomal subunits that were blocked from polysome formation. The other disrupted a predicted pi-pi stacking interaction between two phenylalanine residues leading to a destabilized uS12 that was poorly tolerated in 40S subunit biogenesis. Despite no evidence of a reduction in the rate of mRNA translation, these uS12 variants impaired the accuracy of mRNA translation and rendered cells highly sensitive to oxidative stress. These discoveries describe a ribosomopathy linked to uS12 and reveal mechanistic distinctions between RP gene mutations driving hematopoietic disease and those resulting in developmental disorders.
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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.