ArticleProceedings of the National Academy of Sciences of the United States of America2013
Repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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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
30 citing papers in PubMed, 58 citations in OpenAlex.
- Intravenous gentamicin therapy induces functional type VII collagen in patients with recessive dystrophic epidermolysis bullosa: an open-label clinical trial.The British journal of dermatology · 2024Trial
- Gentamicin Induces Laminin 332 and Improves Wound Healing in Junctional Epidermolysis Bullosa Patients with Nonsense Mutations.Molecular therapy : the journal of the American Society of Gene Therapy · 2020Trial
- Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients.The Journal of clinical investigation · 2017Trial
- Codon specific readthrough as a mechanism of BRCA2 restoration in acquired PARP inhibitor and chemotherapy resistance.Nucleic acids research · 2025Article
- Synthetic rescue of Xeroderma Pigmentosum C phenotype via PIK3C3 downregulation.Cell death & disease · 2024Article
- Peripheral neuropathies associated with DNA repair disorders.Muscle & nerve · 2023Review
- A Preclinical Study to Repurpose Spironolactone for Enhancing Chemotherapy Response in Bladder Cancer.Molecular cancer therapeutics · 2022Article
- Nonsense Suppression Therapy: An Emerging Treatment for Hereditary Skin Diseases.Acta dermato-venereologica · 2022Review
- Functional Restoration ofFrontiers in pharmacology · 2022Article
- Application of topical gentamicin-a new era in the treatment of genodermatosis.World journal of pediatrics : WJP · 2021Review
- Isoconazole and Clemizole Hydrochloride Partially Reverse the Xeroderma Pigmentosum C Phenotype.International journal of molecular sciences · 2021Article
- Nonsense suppression therapies in human genetic diseases.Cellular and molecular life sciences : CMLS · 2021Review
- 2,6-Diaminopurine as a highly potent corrector of UGA nonsense mutations.Nature communications · 2020Article
- Frontotemporal dementia non-sense mutation of progranulin rescued by aminoglycosides.Human molecular genetics · 2020Article
- CRISPR-Pass: Gene Rescue of Nonsense Mutations Using Adenine Base Editors.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Gentamicin inducesProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Bloom syndrome: research and data priorities for the development of precision medicine as identified by some affected families.Cold Spring Harbor molecular case studies · 2018Review
- Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.PloS one · 2017Article
- RNA-based therapies for genodermatoses.Experimental dermatology · 2017Review
- GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient Trichothiodystrophy.American journal of human genetics · 2016Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
Abstract
About 12% of human genetic disorders involve premature termination codons (PTCs). Aminoglycoside antibiotics have been proposed for restoring full-length proteins by readthrough of PTC. To assess the efficiency of readthrough, we selected homozygous and compound heterozygous skin fibroblasts from xeroderma pigmentosum (XP) patients with different PTCs in the XPC DNA repair gene. XP patients have a nucleotide excision repair defect and a 10,000-fold increased risk of UV-induced skin cancer. In six of eight PTC-containing XP-C cells, treatment with Geneticin and gentamicin resulted in (i) stabilized XPC-mRNA, which would have been degraded by nonsense-mediated decay; (ii) increased expression of XPC protein that localized to UV-damaged sites; (iii) recruitment of XPB and XPD proteins to UV DNA damage sites; and (iv) increased repair of 6-4 photoproducts and cyclobutane pyrimidine dimers. Expression of PTC in a transfected vector revealed that readthrough depends on the PTC sequence and its location within the gene. This sensitive DNA repair assay system demonstrates the complexity of response to PTC readthrough inducers. The efficiency of aminoglycoside-mediated readthrough depends on the type and copy number of PTC, the downstream 4+ nucleotide, and the location within the exon. Treatment with small-molecule nonaminoglycoside compounds (PTC124, BZ16, or RTC14) resulted in similarly increased XPC mRNA expression and photoproduct removal with less toxicity than with the aminoglycosides. Characterizing PTC structure and parameters governing effective PTC readthrough may provide a unique prophylactic therapy for skin cancer prevention in XP-C patients.
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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.