ArticlePloS one2013
Targeted gene therapy of xeroderma pigmentosum cells using meganuclease and TALEN™.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
28 citing papers in PubMed, 88 citations in OpenAlex.
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- Evolution of Prime Editing Systems: Move Forward to the Treatment of Hereditary Diseases.Current gene therapy · 2025Review
- Challenges of Gene Editing Therapies for Genodermatoses.International journal of molecular sciences · 2023Review
- Late Presentation of Xeroderma Pigmentosa With Squamous Cell Carcinoma in Septic Shock: Report of a Rare Case.Cureus · 2022Article
- Xeroderma pigmentosum: an updated review.Drugs in context · 2022Review
- Xeroderma Pigmentosum: General Aspects and Management.Journal of personalized medicine · 2021Review
- TALENs-an indispensable tool in the era of CRISPR: a mini review.Journal, genetic engineering & biotechnology · 2021Review
- Gene Replacement Therapies for Genodermatoses: AFrontiers in genetics · 2021Review
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
- PPRC1, but not PGC-1α, levels directly correlate with expression of mitochondrial proteins in human dermal fibroblasts.Genetics and molecular biology · 2020Article
- DNA repair fidelity in stem cell maintenance, health, and disease.Biochimica et biophysica acta. Molecular basis of disease · 2020Review
- Review
- Gene editing in dermatology: Harnessing CRISPR for the treatment of cutaneous disease.F1000Research · 2020Review
- Can Designer Indels Be Tailored by Gene Editing?: Can Indels Be Customized?BioEssays : news and reviews in molecular, cellular and developmental biology · 2019Article
- CRISPR-Pass: Gene Rescue of Nonsense Mutations Using Adenine Base Editors.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- Engineering altered protein-DNA recognition specificity.Nucleic acids research · 2018Review
- The Role of Gene Editing in Neurodegenerative Diseases.Cell transplantation · 2018Review
- Deciphering TAL effectors for 5-methylcytosine and 5-hydroxymethylcytosine recognition.Nature communications · 2017Article
- Crystallographic analyses illustrate significant plasticity and efficient recoding of meganuclease target specificity.Nucleic acids research · 2017Article
- Tuning DNA binding affinity and cleavage specificity of an engineered gene-targeting nuclease via surface display, flow cytometry and cellular analyses.Protein engineering, design & selection : PEDS · 2017Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Xeroderma pigmentosum group C (XP-C) is a rare human syndrome characterized by hypersensitivity to UV light and a dramatic predisposition to skin neoplasms. XP-C cells are deficient in the nucleotide excision repair (NER) pathway, a complex process involved in the recognition and removal of DNA lesions. Several XPC mutations have been described, including a founder mutation in North African patients involving the deletion of a TG dinucleotide (ΔTG) located in the middle of exon 9. This deletion leads to the expression of an inactive truncated XPC protein, normally involved in the first step of NER. New approaches used for gene correction are based on the ability of engineered nucleases such as Meganucleases, Zinc-Finger nucleases or TALE nucleases to accurately generate a double strand break at a specific locus and promote correction by homologous recombination through the insertion of an exogenous DNA repair matrix. Here, we describe the targeted correction of the ΔTG mutation in XP-C cells using engineered meganuclease and TALEN™. The methylated status of the XPC locus, known to inhibit both of these nuclease activities, led us to adapt our experimental design to optimize their in vivo efficacies. We show that demethylating treatment as well as the use of TALEN™ insensitive to CpG methylation enable successful correction of the ΔTG mutation. Such genetic correction leads to re-expression of the full-length XPC protein and to the recovery of NER capacity, attested by UV-C resistance of the corrected cells. Overall, we demonstrate that nuclease-based targeted approaches offer reliable and efficient strategies for gene correction.
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Registered trials
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.