ArticleMolecular therapy. Nucleic acids2018
Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair.
Article in Molecular therapy. Nucleic acids, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 67 citations in OpenAlex.
- Developing CRISPR-Based Therapies for Epidermolysis Bullosa: A Comprehensive Review of Current Strategies.Drugs · 2026Review
- Recombinant humanized type VII collagen for skin repair and regeneration: prospects for reconstructing the dermal-epidermal junction.Frontiers in medicine · 2026Review
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- Review
- Enhanced HDR-mediated correction of heterozygousMolecular therapy. Nucleic acids · 2025Article
- Immunological control of skin development: from homeostasis to developmental pathologies.Frontiers in immunology · 2025Review
- A bioinformatic analysis of gene editing off-target loci altered by common polymorphisms, using 'PopOff'.Journal of the Royal Society of New Zealand · 2025Article
- Current Status of Biomedical Products for Gene and Cell Therapy of Recessive Dystrophic Epidermolysis Bullosa.International journal of molecular sciences · 2024Review
- CRISPR-Cas9-based non-viral gene editing therapy for topical treatment of recessive dystrophic epidermolysis bullosa.Molecular therapy. Methods & clinical development · 2023Article
- Cytosine Deaminase Base Editing to RestoreJID innovations : skin science from molecules to population health · 2023Article
- Challenges of Gene Editing Therapies for Genodermatoses.International journal of molecular sciences · 2023Review
- Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects.Therapeutics and clinical risk management · 2023Review
- Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa byMolecular therapy. Methods & clinical development · 2022Article
- ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation.Scientific reports · 2022Article
- Epidermolysis Bullosa: A Review of the Tissue-Engineered Skin Substitutes Used to Treat Wounds.Molecular diagnosis & therapy · 2022Review
- Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- CRISPR/Cas9 application in cancer therapy: a pioneering genome editing tool.Cellular & molecular biology letters · 2022Review
- CRISPR/Cas9-Mediated Allele-Specific Disruption of a DominantInternational journal of molecular sciences · 2022Article
- CRISPR-Cas9‒Based Genomic Engineering in Keratinocytes: From Technology to Application.JID innovations : skin science from molecules to population health · 2022Review
- The Potential of CRISPR-Guided Therapies in the Dermatology Clinic.JID innovations : skin science from molecules to population health · 2022Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recessive dystrophic epidermolysis bullosa is a rare and severe genetic skin disease resulting in blistering of the skin and mucosa. Recessive dystrophic epidermolysis bullosa (RDEB) is caused by a wide variety of mutations in COL7A1-encoding type VII collagen, which is essential for dermal-epidermal adhesion. Here we demonstrate the feasibility of ex vivo COL7A1 editing in primary RDEB cells and in grafted 3D skin equivalents through CRISPR/Cas9-mediated homology-directed repair. We designed five guide RNAs to correct a RDEB causative null mutation in exon 2 (c.189delG; p.Leu64Trpfs*40). Among the site-specific guide RNAs tested, one showed significant cleavage activity in primary RDEB keratinocytes and in fibroblasts when delivered as integration-deficient lentivirus. Genetic correction was detected in transduced keratinocytes and fibroblasts by allele-specific highly sensitive TaqMan-droplet digital PCR (ddPCR), resulting in 11% and 15.7% of corrected COL7A1 mRNA expression, respectively, without antibiotic selection. Grafting of genetically corrected 3D skin equivalents onto nude mice showed up to 26% re-expression and normal localization of type VII collagen as well as anchoring fibril formation at the dermal-epidermal junction. Our study provides evidence that precise genome editing in primary RDEB cells is a relevant strategy to genetically correct COL7A1 mutations for the development of future ex vivo clinical applications.
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