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Targeted pseudouridylation: An approach for suppressing nonsense mutations in disease genes
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
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A nonpathologic allele (IW) for low α‐L‐iduronidase enzyme activity vis‐a‐vis prenatal diagnosis of Hurler syndrome
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Molecular genetics of muccpolysaccharidosis type I: Diagnostic, clinical, and biological implications
inferredcites →https://doi.org/10.1002/humu.20763openalex-snapshot
A meta-analysis of nonsense mutations causing human genetic disease
inferredcites →https://doi.org/10.1002/wrna.1641openalex-snapshot
Therapeutic promise of engineered nonsense suppressor tRNAs
inferredcites →https://doi.org/10.1002/wrna.95openalex-snapshot
Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases
inferredcites →https://doi.org/10.1006/jmbi.1998.2237openalex-snapshot
Yeast RNase III as a key processing enzyme in small nucleolar RNAs metabolism
inferredcites →https://doi.org/10.1007/s00018-021-03809-7openalex-snapshot
Nonsense suppression therapies in human genetic diseases
inferredcites →https://doi.org/10.1007/s00412-005-0333-9openalex-snapshot
The many facets of H/ACA ribonucleoproteins
inferredcites →https://doi.org/10.1016/0009-8981(79)90121-9openalex-snapshot
A fluorometric assay using 4-methylumbelliferyl α-l-iduronide for the estimation of α-l-iduronidase activity and the detection of Hurler and Scheie syndromes
inferredcites →https://doi.org/10.1016/0092-8674(76)90128-8openalex-snapshot
Capping of eucaryotic mRNAs
inferredcites →https://doi.org/10.1016/j.biocel.2014.02.023openalex-snapshot
Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies
inferredcites →https://doi.org/10.1016/j.jcf.2018.12.001openalex-snapshot
Isogenic cell models of cystic fibrosis-causing variants in natively expressing pulmonary epithelial cells
inferredcites →https://doi.org/10.1016/j.molcel.2010.01.032openalex-snapshot
Box H/ACA Small Ribonucleoproteins
inferredcites →https://doi.org/10.1016/j.tig.2008.08.010openalex-snapshot
Introducing sense into nonsense in treatments of human genetic diseases
inferredcites →https://doi.org/10.1016/j.tig.2016.04.007openalex-snapshot
The Meaning of NMD: Translate or Perish
inferredcites →https://doi.org/10.1016/j.ymgme.2009.08.002openalex-snapshot
Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation
inferredcites →https://doi.org/10.1016/j.ymgme.2013.05.016openalex-snapshot
Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
inferredcites →https://doi.org/10.1016/s0092-8674(00)80238-xopenalex-snapshot
Small Nucleolar RNAs Direct Site-Specific Synthesis of Pseudouridine in Ribosomal RNA
inferredcites →https://doi.org/10.1016/s0092-8674(00)80263-9openalex-snapshot
Site-Specific Pseudouridine Formation in Preribosomal RNA Is Guided by Small Nucleolar RNAs
inferredcites →https://doi.org/10.1016/s0092-8674(01)00583-9openalex-snapshot
When the Message Goes Awry
inferredcites →https://doi.org/10.1017/s1355838202022537openalex-snapshot
An H/ACA guide RNA directs U2 pseudouridylation at two different sites in the branchpoint recognition region in Xenopus oocytes
inferredcites →https://doi.org/10.1021/bi00088a030openalex-snapshot
Four newly located pseudouridylate residues in Escherichia coli 23S ribosomal RNA are all at the peptidyltransferase center: Analysis by the application of a new sequencing technique
inferredcites →https://doi.org/10.1038/379464a0openalex-snapshot
A mammalian gene with introns instead of exons generating stable RNA products
inferredcites →https://doi.org/10.1038/mtna.2016.37openalex-snapshot
iRNA-PseU: Identifying RNA pseudouridine sites
inferredcites →https://doi.org/10.1038/nature10165openalex-snapshot
Converting nonsense codons into sense codons by targeted pseudouridylation
inferredcites →https://doi.org/10.1038/nature12302openalex-snapshot
Unusual base pairing during the decoding of a stop codon by the ribosome
inferredcites →https://doi.org/10.1038/nature13802openalex-snapshot
Pseudouridine profiling reveals regulated mRNA pseudouridylation in yeast and human cells
inferredcites →https://doi.org/10.1038/nmeth.3810openalex-snapshot
Robust transcriptome-wide discovery of RNA-binding protein binding sites with enhanced CLIP (eCLIP)
inferredcites →https://doi.org/10.1038/nprot.2012.029openalex-snapshot
Inducing nonsense suppression by targeted pseudouridylation
inferredcites →https://doi.org/10.1038/nrc.2017.109openalex-snapshot
Targeting mutant p53 for efficient cancer therapy
inferredcites →https://doi.org/10.1038/nrm1310openalex-snapshot
Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics
inferredcites →https://doi.org/10.1038/s41556-020-00618-1openalex-snapshot
Loss of the fragile X syndrome protein FMRP results in misregulation of nonsense-mediated mRNA decay
inferredcites →https://doi.org/10.1038/s41580-019-0126-2openalex-snapshot
Quality and quantity control of gene expression by nonsense-mediated mRNA decay
inferredcites →https://doi.org/10.1038/sj.clpt.6100012openalex-snapshot
Aminoglycoside-induced Translational Read-through in Disease: Overcoming Nonsense Mutations by Pharmacogenetic Therapy
inferredcites →https://doi.org/10.1038/sj.emboj.7600181openalex-snapshot
Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins
inferredcites →https://doi.org/10.1073/pnas.1219908110openalex-snapshot
Rules that govern UPF1 binding to mRNA 3′ UTRs
inferredcites →https://doi.org/10.1073/pnas.1605336113openalex-snapshot
Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression
inferredcites →https://doi.org/10.1073/pnas.1821754116openalex-snapshot
Pseudouridinylation of mRNA coding sequences alters translation
inferredcites →https://doi.org/10.1089/nat.2019.0838openalex-snapshot
Delivery of Antisense Oligonucleotides to the Cornea
inferredcites →https://doi.org/10.1093/bioinformatics/btq033openalex-snapshot
BEDTools: a flexible suite of utilities for comparing genomic features
inferredcites →https://doi.org/10.1093/bioinformatics/bts635openalex-snapshot
STAR: ultrafast universal RNA-seq aligner
inferredcites →https://doi.org/10.1093/bioinformatics/btv366openalex-snapshot
PPUS: a web server to predict PUS-specific pseudouridine sites
inferredcites →https://doi.org/10.1093/emboj/17.19.5783openalex-snapshot
Modifications of U2 snRNA are required for snRNP assembly and pre‐mRNA splicing
inferredcites →https://doi.org/10.1093/emboj/cdg191openalex-snapshot
Pseudouridylation (Ψ) of U2 snRNA in S.cerevisiae is catalyzed by an RNA‐independent mechanism
inferredcites →https://doi.org/10.1093/hmg/ddp030openalex-snapshot
Translational readthrough by the aminoglycoside geneticin (G418) modulates SMN stability in vitro and improves motor function in SMA mice in vivo
inferredcites →https://doi.org/10.1093/hmg/ddx196openalex-snapshot
Identification of the amino acids inserted during suppression of CFTR nonsense mutations and determination of their functional consequences
inferredcites →https://doi.org/10.1093/nar/18.22.6565openalex-snapshot
Mouse U14 snRNA is encoded in an intron of the mouse cognate hsc70 heat shock gene
inferredcites →https://doi.org/10.1093/nar/22.8.1327openalex-snapshot
Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs
inferredcites →https://doi.org/10.1093/nar/30.1.207openalex-snapshot
Gene Expression Omnibus: NCBI gene expression and hybridization array data repository
inferredcites →https://doi.org/10.1093/nar/gkx1167openalex-snapshot
Efficient RNA pseudouridylation by eukaryotic H/ACA ribonucleoproteins requires high affinity binding and correct positioning of guide RNA
inferredcites →https://doi.org/10.1101/cshperspect.a011700openalex-snapshot
The Molecular Basis of -Thalassemia
inferredcites →https://doi.org/10.1101/cshperspect.a028035openalex-snapshot
Pathology of Neurodegenerative Diseases
inferredcites →https://doi.org/10.1101/gad.11.24.3306openalex-snapshot
5′-Capping enzymes are targeted to pre-mRNA by binding to the phosphorylated carboxy-terminal domain of RNA polymerase II
inferredcites →https://doi.org/10.1101/gad.247361.114openalex-snapshot
Detained introns are a novel, widespread class of post-transcriptionally spliced introns
inferredcites →https://doi.org/10.1101/gr.209601.116openalex-snapshot
UMI-tools: modeling sequencing errors in Unique Molecular Identifiers to improve quantification accuracy
inferredcites →https://doi.org/10.1101/sqb.2006.71.025openalex-snapshot
Biogenesis and Intranuclear Trafficking of Human Box C/D and H/ACA RNPs
inferredcites →https://doi.org/10.1111/j.1365-2141.1989.tb04285.xopenalex-snapshot
β THALASSAEMIA MUTATIONS IN MEDITERRANEAN POPULATIONS
inferredcites →https://doi.org/10.1128/9781555818296openalex-snapshot
Modification and Editing of RNA
inferredcites →https://doi.org/10.1128/mcb.24.13.5797-5807.2004openalex-snapshot
Human Box H/ACA Pseudouridylation Guide RNA Machinery
inferredcites →https://doi.org/10.1128/mcb.26.7.2540-2549.2006openalex-snapshot
Cotranscriptional Recognition of Human Intronic Box H/ACA snoRNAs Occurs in a Splicing-Independent Manner
inferredcites →https://doi.org/10.1146/annurev-med-120611-144851openalex-snapshot
Ataluren as an Agent for Therapeutic Nonsense Suppression
inferredcites →https://doi.org/10.1172/jci28523openalex-snapshot
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
inferredcites →https://doi.org/10.1242/dmm.025783openalex-snapshot
Mice with missense and nonsense NF1 mutations display divergent phenotypes compared to NF1 patients
inferredcites →https://doi.org/10.1261/rna.066837.118openalex-snapshot
Guide-substrate base-pairing requirement for box H/ACA RNA-guided RNA pseudouridylation
inferredcites →https://doi.org/10.1261/rna.071043.119openalex-snapshot
Base-pairing interactions between substrate RNA and H/ACA guide RNA modulate the kinetics of pseudouridylation, but not the affinity of substrate binding by H/ACA small nucleolar ribonucleoproteins
inferredcites →https://doi.org/10.1261/rna.076042.120openalex-snapshot
Pseudouridine-mediated stop codon readthrough in S. cerevisiae is sequence context–independent
inferredcites →https://doi.org/10.1261/rna.1361509openalex-snapshot
Functionality and substrate specificity of human box H/ACA guide RNAs
inferredcites →https://doi.org/10.1371/journal.pone.0247511openalex-snapshot
Identification of RNA pseudouridine sites using deep learning approaches
inferredcites →https://doi.org/10.14806/ej.17.1.200openalex-snapshot
Cutadapt removes adapter sequences from high-throughput sequencing reads
inferredcites →https://doi.org/10.15252/embj.201593113openalex-snapshot
Pseudouridines in U2 snRNA stimulate the ATPase activity of Prp5 during spliceosome assembly
inferredcites →https://doi.org/10.3389/fonc.2017.00323openalex-snapshot
Synergistic Rescue of Nonsense Mutant Tumor Suppressor p53 by Combination Treatment with Aminoglycosides and Mdm2 Inhibitors
inferredcites →https://doi.org/10.3390/ijms20225722openalex-snapshot
Gene Therapy in Retinal Dystrophies
inferredcites →https://doi.org/10.3390/ijms21124394openalex-snapshot
Suppression of Nonsense Mutations by New Emerging Technologies
inferredcites →https://doi.org/10.3892/ijmm.2014.1809openalex-snapshot
Therapeutic suppression of premature termination codons: Mechanisms and clinical considerations (Review)
inferredcites →https://doi.org/10.4161/15476286.2014.972855openalex-snapshot
RNA-guided isomerization of uridine to pseudouridine—pseudouridylation
inferredcites →https://doi.org/10.7150/ijbs.49871openalex-snapshot
Role of smooth muscle cells in Cardiovascular Disease
inferredcites →https://doi.org/10.7554/elife.52611openalex-snapshot
Stop codon context influences genome-wide stimulation of termination codon readthrough by aminoglycosides
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
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Targeted Pseudouridylation Identifies a Novel Ψ-Ψ Codon-Anticodon Pairing in Nonsense Suppression and Translational Recoding
inferred← citeshttps://doi.org/10.1002/9783527838394.ch3openalex-snapshot
Modified or Unmodified mRNA Vaccines? – The Biochemistry of Pseudouridine and mRNA Pseudouridylation
inferred← citeshttps://doi.org/10.1002/chem.202404244openalex-snapshot
Site‐Selective Modification and Labeling of Native RNA
inferred← citeshttps://doi.org/10.1002/ijch.202300169openalex-snapshot
Engineered RNA‐Binding Proteins: Studying and Controlling RNA Regulation
inferred← citeshttps://doi.org/10.1002/ijch.202400005openalex-snapshot
RNA‐Guided RNA Pseudouridylation and 2’‐O‐Methylation
inferred← citeshttps://doi.org/10.1002/mco2.70816openalex-snapshot
RNA Modifications in Tumor Microenvironment: A New Dimension for Cancer Treatment
inferred← citeshttps://doi.org/10.1002/wrna.1844openalex-snapshot
RNA base editors: The emerging approach of RNA therapeutics
inferred← citeshttps://doi.org/10.1007/s11426-025-3018-0openalex-snapshot
Chemical biology of precise RNA targeting and intervention: advances and perspectives
inferred← citeshttps://doi.org/10.1007/s11427-024-2613-yopenalex-snapshot
Suppressor tRNA in gene therapy
inferred← citeshttps://doi.org/10.1007/s12268-025-2500-2openalex-snapshot
Selektive RNA-Modifizierung durch OREOs
inferred← citeshttps://doi.org/10.1007/s42977-023-00158-3openalex-snapshot
The importance of pseudouridylation: human disorders related to the fifth nucleoside
inferred← citeshttps://doi.org/10.1016/j.cell.2024.10.046openalex-snapshot
snoRNA-facilitated protein secretion revealed by transcriptome-wide snoRNA target identification
inferred← citeshttps://doi.org/10.1016/j.cellsig.2024.111242openalex-snapshot
RETRACTED: RNA modifications in physiology and pathology: Progressing towards application in clinical settings
inferred← citeshttps://doi.org/10.1016/j.chembiol.2024.07.007openalex-snapshot
Precision epigenetic editing: Technological advances, enduring challenges, and therapeutic applications
inferred← citeshttps://doi.org/10.1016/j.gde.2024.102210openalex-snapshot
Exploring pseudouridylation: dysregulation in disease and therapeutic potential
inferred← citeshttps://doi.org/10.1016/j.gde.2024.102230openalex-snapshot
Therapeutic strategies to target the epitranscriptomic machinery
inferred← citeshttps://doi.org/10.1016/j.jcf.2026.02.014openalex-snapshot
Therapeutic approaches for nonsense mutations in CFTR
inferred← citeshttps://doi.org/10.1016/j.molcel.2023.02.001openalex-snapshot
Rewriting the message: Harnessing RNA pseudouridylation to tackle disease
inferred← citeshttps://doi.org/10.1016/j.molcel.2025.01.021openalex-snapshot
Type III CRISPR-mediated flexible RNA excision with engineered guide RNAs
inferred← citeshttps://doi.org/10.1016/j.neurot.2024.e00391openalex-snapshot
Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders
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Pharmaceutical perspectives on oligonucleotide therapeutics and delivery systems
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Targeted RNA base editing for therapeutic: mechanisms and advances
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Why U matters: detection and functions of pseudouridine modifications in mRNAs
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Directing RNA-modifying machineries towards endogenous RNAs: opportunities and challenges
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The rise of epitranscriptomics: recent developments and future directions
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PUS7 mRNA pseudouridylation is driven by RNA sequence, structure, and cell-type-specific features
inferred← citeshttps://doi.org/10.1021/acs.accounts.3c00436openalex-snapshot
Quantifying m6A and Ψ Modifications in the Transcriptome via Chemical-Assisted Approaches
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RNA-Guided RNA Modifications: Biogenesis, Functions, and Applications
inferred← citeshttps://doi.org/10.1021/acschembio.4c00813openalex-snapshot
Mapping snoRNA Targets Transcriptome-Wide with snoKARR-seq
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Precision Transcriptome Editing
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Advances in brain epitranscriptomics research and translational opportunities
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N1-Methylpseudouridine and pseudouridine modifications modulate mRNA decoding during translation
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Selective RNA pseudouridinylation in situ by circular gRNAs in designer organelles
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CRISPR-free RNA base editing mediated PTC-readthrough restores hearing in mice with Otof nonsense mutation
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RNA modifications in physiology and disease: towards clinical applications
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Regulation and functions of non-m6A mRNA modifications
inferred← citeshttps://doi.org/10.1038/s41580-025-00852-1openalex-snapshot
Functions and therapeutic applications of pseudouridylation
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Near-cognate tRNAs increase the efficiency and precision of pseudouridine-mediated readthrough of premature termination codons
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Single-strand deaminase-assisted editing for functional RNA manipulation
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Programmable RNA base editing via targeted modifications
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A Ψ–Ψ codon–anticodon pairing in nonsense suppression and translational recoding
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Enhancing RNA base editing on mammalian transcripts with small nuclear RNAs
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Pseudouridines in translation
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Advances in the detection of RNA modification
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Pseudouridylation-mediated gene expression modulation
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The Role the Saccharomyces cerevisiae Nonsense-Mediated mRNA Decay Pathway Plays in Metal Toxin Uptake and Detoxification
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FLT4 causes developmental disorders of the cardiovascular and lymphovascular systems via pleiotropic molecular mechanisms
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Optimization of ACE-tRNAs function in translation for suppression of nonsense mutations
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ACE-tRNAs are a platform technology for suppressing nonsense mutations that cause cystic fibrosis
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Codon specific readthrough as a mechanism of BRCA2 restoration in acquired PARP inhibitor and chemotherapy resistance
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Small nuclear RNAs enhance protein-free RNA-programmable base conversion on mammalian coding transcripts
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Recent developments, opportunities, and challenges in the study of mRNA pseudouridylation
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Detection and site-specific editing of RNA modifications
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Selective RNA pseudouridinylation in situ by circular gRNAs in designer organelles
inferred← citeshttps://doi.org/10.21769/bioprotoc.4985openalex-snapshot
Updated Pseudo-seq Protocol for Transcriptome-Wide Detection of Pseudouridines
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Pseudouridine Synthase 7 in Cancer: Functions, Mechanisms, and Therapeutic Potential
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RNA Cis-Elements Involved in Animal Virus Stop Codon Readthrough: Stop Codon Context and Downstream RNA Structures
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Advancing Gene Therapy for Pancreatitis: From Genetic Insights to Clinical Translation
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RNA modifications: emerging players in the regulation of reproduction and development
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A South African perspective on MYD88 and CXCR4 variants in lymphoplasmacytic lymphoma or Waldenström macroglobulinaemia
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