ArticleNPJ genomic medicine2022
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
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In one paragraph
Article in NPJ genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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0cells of the map it votes in
16citing papers in PubMed
1.6field-weighted citation impact, top 16% of its field
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes.Investigative ophthalmology & visual science · 2026Article
- COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.Science advances · 2026Article
- Bi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.American journal of human genetics · 2026Article
- Long-read Sequencing in Inherited Retinal Dystrophies: A Systematic Review.Ophthalmology science · 2026Review
- Mitochondrial Dysfunctions in Human Primary Coenzyme QBiomolecules · 2026Review
- Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a model of mucopolysaccharidosis type IVA.Disease models & mechanisms · 2026Article
- Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.Biomolecules · 2025Review
- Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.Investigative ophthalmology & visual science · 2025Article
- Severe Neurological Presentation in Siblings WithJIMD reports · 2025Article
- Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in theMolecular syndromology · 2025Article
- PDSS1 mutations-associated steroid-resistant nephrotic syndrome: case report and review of literature.Pediatric nephrology (Berlin, Germany) · 2025Review
- Identification of a newMolecular genetics and metabolism reports · 2025Article
- Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.American journal of human genetics · 2024Article
- COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.Molecular cell · 2024Article
- Neuroimaging in Primary Coenzyme-QAntioxidants (Basel, Switzerland) · 2023Review
- Whole exome sequencing of patients with varicella-zoster virus and herpes simplex virus induced acute retinal necrosis reveals rare disease-associated genetic variants.Frontiers in molecular neuroscience · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 12 institutions in 5 countries.
Neringa JurkuteMoorfields Eye Hospital NHS Foundation Trust, London, UK. n.jurkute@nhs.net.ORCID http://orcid.org/0000-0002-3092-7451
Francesca CancellieriInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID http://orcid.org/0000-0001-8476-5366
Lisa PohlUniversity Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.
Catherina H Z LiDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Robert A HeatonSchool of Pharmacy and Biomolecular Sciences, Liverpool John Moores, Liverpool, UK.
Janine ReurinkDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0002-5677-9258
James BellinghamInstitute of Ophthalmology, University College London, London, UK.ORCID http://orcid.org/0000-0003-3368-5221
Mathieu QuinodozInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.
Georgia YiotiUniversity of Ioannina Medical School, Ioannina, Greece.
Maria StefaniotouUniversity of Ioannina Medical School, Ioannina, Greece.
Marianna WeenerOftalmic Clinical Research Organization, Moscow, Russia.ORCID http://orcid.org/0000-0002-1089-4293
Theresia ZulegerInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
Katarina StinglUniversity Eye Hospital, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-8132-911X
Genomics England Research Consortium
Carel B HoyngDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.
Omar A MahrooMoorfields Eye Hospital NHS Foundation Trust, London, UK.ORCID http://orcid.org/0000-0003-1254-0832
Iain HargreavesSchool of Pharmacy and Biomolecular Sciences, Liverpool John Moores, Liverpool, UK.
F Lucy RaymondNIHR BioResource-Rare Diseases, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.
Michel MichaelidesMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Carlo RivoltaInstitute of Molecular and Clinical Ophthalmology Basel (IOB), Basel, Switzerland.ORCID http://orcid.org/0000-0002-0733-9950
Susanne KohlInstitute for Ophthalmic Research, Centre for Ophthalmology, University of Tübingen, Tübingen, Germany.ORCID http://orcid.org/0000-0002-6438-6331
Susanne RoosingDonders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.ORCID http://orcid.org/0000-0001-9038-0067
Andrew R WebsterMoorfields Eye Hospital NHS Foundation Trust, London, UK.
Gavin ArnoMoorfields Eye Hospital NHS Foundation Trust, London, UK. g.arno@ucl.ac.uk.ORCID http://orcid.org/0000-0002-6165-7888
Genomics England · GBQueen Mary University of London · GBMoorfields Eye Hospital NHS Foundation Trust · GBRadboud University Nijmegen · NLSTZ eyetrial · DELiverpool John Moores University · GBUniversity of Ioannina · GRUniversity of Leicester · GBUniversity of Tübingen · DEUniversity College London · GBUniversity of Basel · CHUniversity of Cambridge · GB
Funding
Fight for Sight UK 5045/46National Eye Research Centre (NERC) SAC051Wellcome TrustWellcome Trust (Wellcome) 206619/Z/17/Z
Abstract
The aim of this study was to investigate coenzyme Q10 (CoQ
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
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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.