ArticleProceedings of the National Academy of Sciences of the United States of America2020
Pseudouridylation defect due to
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Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
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34citing papers in PubMed
2.5field-weighted citation impact, top 10% of its field
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Who cites it
34 citing papers in PubMed, 52 citations in OpenAlex.
- Identification and Computational Analysis of a Novel Pathogenic DKC1 Variant Underlying X-Linked Dyskeratosis Congenita.Biochemical genetics · 2026Article
- Podocin oligomers regulate the ordering of nephrin chains, providing the molecular basis ofProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Adult male patients withERJ open research · 2026Article
- Mechanistic insight into the pseudouridylation of RNA.RNA biology · 2025Review
- Senescent-like border-associated macrophages regulate cognitive aging via migrasome-mediated induction of paracrine senescence in microglia.Nature aging · 2025Article
- The MEC-2E isoform with a large C-terminal completely rescues the touch sensation defect of C. elegans.Scientific reports · 2025Article
- CYP51A1 in health and disease: from sterol metabolism to regulated cell death.Cell death discovery · 2025Review
- Mechanisms of ribosomopathy and phase separation-related ribosomopathy.Journal of Zhejiang University. Science. B · 2025Review
- Development of a Short Telomere Zebrafish Model for Accelerated Aging Research and Antiaging Drug Screening.Aging cell · 2025Article
- Emerging roles of ribosome translation in stem cells and stem cell therapy - a review.Cell & bioscience · 2025Review
- The zebrafish (NAR genomics and bioinformatics · 2025Article
- Epigenetic Regulation of Ferroptosis in Chronic Kidney Disease: Mechanisms and Implications.Research (Washington, D.C.) · 2025Review
- RNA modifications and their role in gene expression.Frontiers in molecular biosciences · 2025Review
- Article
- Metabolic Characteristics of Sclera in Lens-Induced Myopic Guinea Pigs.Investigative ophthalmology & visual science · 2024Article
- The dominant findings of a recessive man: from Mendel's kid pea to kidney.Pediatric nephrology (Berlin, Germany) · 2024Review
- CLPP-Null Eukaryotes with Excess Heme Biosynthesis Show Reduced L-arginine Levels, Probably via CLPX-Mediated OAT Activation.Biomolecules · 2024Article
- Why U matters: detection and functions of pseudouridine modifications in mRNAs.Trends in biochemical sciences · 2024Review
- METTL5-mediated 18S rRNA mMolecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Control of protein synthesis through mRNA pseudouridylation by dyskerin.Science advances · 2023Article
Corrections and comments
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Authors and funding
57 authors at 11 institutions in 6 countries.
Eszter BaloghMTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.ORCID 0000-0003-2813-4759
Jennifer C ChandlerDevelopmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.ORCID 0000-0001-9785-4528
Máté VargaMTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary; mvarga@ttk.elte.hu aoife.waters@gosh.nhs.uk tory.kalman@med.semmelweis-univ.hu.ORCID 0000-0003-4289-1705
Mona TahounDevelopmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
Dóra K MenyhárdMTA-ELTE Protein Modeling Research Group, Eötvös Loránd University, HU 1117 Budapest, Hungary.
Gusztáv SchayMTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.ORCID 0000-0001-9512-3203
Tomas GoncalvesChromosome Maintenance Research Group, University College London Cancer Institute, WC1E 6DD London, United Kingdom.
Renáta HamarDepartment of Genetics, Eötvös Loránd University, HU 1117 Budapest, Hungary.
Regina LégrádiMTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.ORCID 0000-0002-5634-4000
Ákos SzekeresFirst Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
Olivier GribouvalLaboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, UMR 1163, Université de Paris, FR 75015 Paris, France.ORCID 0000-0003-0238-8224
Robert KletaDivision of Medicine, Royal Free Hospital, NW3 2QG London, United Kingdom.ORCID 0000-0002-0228-8656
Horia StanescuDivision of Medicine, Royal Free Hospital, NW3 2QG London, United Kingdom.
Detlef BockenhauerDivision of Medicine, Royal Free Hospital, NW3 2QG London, United Kingdom.ORCID 0000-0001-5878-941X
Andrea KertiMTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.
Hywel WilliamsGOSgene, Experimental and Personalised Medicine, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
Veronica KinslerGenetics and Genomic Medicine, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
Wei-Li DiInfection, Immunity, Inflammatory, and Physiological Medicine, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.ORCID 0000-0002-4851-1649
David CurtisUniversity College London Genetics Institute, University College London, C1E 6AD London, United Kingdom.ORCID 0000-0002-4089-9183
Maria Kolatsi-JoannouDevelopmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.ORCID 0000-0003-1636-3968
Hafsa HammidDevelopmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.
Anna SzőcsMedical Imaging Department, Neuroradiology Department, Semmelweis University, HU 1082 Budapest, Hungary.ORCID 0000-0001-7944-3303
Kristóf PerczelMTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.
Erika MakaDepartment of Ophthalmology, Semmelweis University, HU 1085 Budapest, Hungary.ORCID 0000-0002-3631-3506
Gergely ToldiFirst Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.ORCID 0000-0003-0178-1243
Florentina SavaMTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.ORCID 0000-0001-8936-3542
Christelle ArrondelLaboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, UMR 1163, Université de Paris, FR 75015 Paris, France.
Magdolna KardosSecond Department of Pathology, Semmelweis University, HU 1091 Budapest, Hungary.ORCID 0000-0003-1464-7887
Attila FinthaSecond Department of Pathology, Semmelweis University, HU 1091 Budapest, Hungary.ORCID 0000-0002-0519-8170
Ahmed HossainDépartement des Sciences Biologiques, Université du Québec à Montréal, Montréal, QC H2X 1Y4, Canada.
Felipe D'ArcoDepartment of Neuro-Radiology, Great Ormond Street Hospital, WC1N 3JH London, United Kingdom.ORCID 0000-0001-7396-591X
Mario KaliakatsosDepartment of Neurology, Great Ormond Street Hospital, WC1N 3JH London, United Kingdom.ORCID 0000-0001-6299-9866
Jutta KoeglmeierDepartment of Gastroenterology, Great Ormond Street Hospital, WC1N 3JH London, United Kingdom.ORCID 0000-0001-7875-5786
William MifsudDepartment of Histopathology, Great Ormond Street Hospital, WC1N 3JH London, United Kingdom.ORCID 0000-0002-9805-6461
Mariya MoosajeeInstitute of Ophthalmology, University College London, EC1V 9EL London, United Kingdom.ORCID 0000-0003-1688-5360
Ana FaroDivision of Biosciences, Department of Cell and Developmental Biology, University College London, WC1E 6BT London, United Kingdom.ORCID 0000-0003-2575-2308
Eszter JávorszkyMTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary.ORCID 0000-0002-7834-8854
Gábor RudasMedical Imaging Department, Neuroradiology Department, Semmelweis University, HU 1082 Budapest, Hungary.
Marwa H SaiedClinical and Chemical Pathology Department, Faculty of Medicine Alexandria University, EG 21500, Egypt.ORCID 0000-0002-0306-6510
Salah MarzoukClinical and Chemical Pathology Department, Faculty of Medicine Alexandria University, EG 21500, Egypt.
Kata KelenFirst Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
Judit GötzeFirst Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.
George ReuszFirst Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.ORCID 0000-0003-0396-043X
Tivadar TulassayFirst Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.ORCID 0000-0002-5387-8103
François DragonDépartement des Sciences Biologiques, Université du Québec à Montréal, Montréal, QC H2X 1Y4, Canada.ORCID 0000-0002-6043-5626
Géraldine MolletLaboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, UMR 1163, Université de Paris, FR 75015 Paris, France.ORCID 0000-0003-4685-5736
Susanne MotamenyCologne Center for Genomics, University of Cologne, DE 50931 Cologne, Germany.ORCID 0000-0003-1186-1108
Holger ThieleCologne Center for Genomics, University of Cologne, DE 50931 Cologne, Germany.
Guillaume DorvalLaboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, UMR 1163, Université de Paris, FR 75015 Paris, France.ORCID 0000-0003-3883-1398
Peter NürnbergCologne Center for Genomics, University of Cologne, DE 50931 Cologne, Germany.ORCID 0000-0002-7228-428X
András PerczelMTA-ELTE Protein Modeling Research Group, Eötvös Loránd University, HU 1117 Budapest, Hungary.
Attila J SzabóFirst Department of Pediatrics, Semmelweis University, HU 1083 Budapest, Hungary.ORCID 0000-0001-7321-9861
David A LongDevelopmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom.ORCID 0000-0001-6580-3435
Kazunori TomitaChromosome Maintenance Research Group, University College London Cancer Institute, WC1E 6DD London, United Kingdom.ORCID 0000-0003-1096-6725
Corinne AntignacLaboratory of Hereditary Kidney Diseases, Imagine Institute, INSERM, UMR 1163, Université de Paris, FR 75015 Paris, France.ORCID 0000-0002-9934-4940
Aoife M WatersDevelopmental Biology and Cancer Programme, University College London Great Ormond Street Institute of Child Health, WC1N 1EH London, United Kingdom; mvarga@ttk.elte.hu aoife.waters@gosh.nhs.uk tory.kalman@med.semmelweis-univ.hu.ORCID 0000-0003-4520-5635
Kálmán ToryMTA-SE Lendület Nephrogenetic Laboratory, Semmelweis University, HU 1083 Budapest, Hungary; mvarga@ttk.elte.hu aoife.waters@gosh.nhs.uk tory.kalman@med.semmelweis-univ.hu.ORCID 0000-0002-0316-6212
Semmelweis University · HUUniversity College London · GBGreat Ormond Street Hospital · GBInserm · FREötvös Loránd University · HUThe Royal Free Hospital · GBUniversity of Cologne · DEAlexandria University · EGLondon Cancer · GBUniversité du Québec à Montréal · CAHôpital Necker-Enfants Malades · FR
Funding
Cancer Research UK C36439/A12097Department of HealthMedical Research Council MR/K010654/1
Abstract
RNA modifications play a fundamental role in cellular function. Pseudouridylation, the most abundant RNA modification, is catalyzed by the H/ACA small ribonucleoprotein (snoRNP) complex that shares four core proteins, dyskerin (DKC1), NOP10, NHP2, and GAR1. Mutations in
Indexed as
AnimalsCataractCell Cycle ProteinsChildEnterocolitisFemaleGenetic Predisposition to DiseaseHearing Loss, SensorineuralHumansLongevityMaleModels, MolecularMolecular Dynamics SimulationMutationNephrotic SyndromeNuclear ProteinsCell Cycle ProteinsDKC1 protein, humanNOP10 protein, humanNuclear ProteinsRibonucleoproteins, Small NucleolarRNA, RibosomalH/ACA snoRNPpediatricspseudouridylationrRNAtelomere
Identifiers
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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.