ArticleMolecular therapy. Nucleic acids2016
Gene Editing for the Efficient Correction of a Recurrent COL7A1 Mutation in Recessive Dystrophic Epidermolysis Bullosa Keratinocytes.
Article in Molecular therapy. Nucleic acids, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 57 citations in OpenAlex.
- Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives.MedComm · 2026Review
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.Journal of medical genetics · 2025Article
- Immunological control of skin development: from homeostasis to developmental pathologies.Frontiers in immunology · 2025Review
- 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
- Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa byMolecular therapy. Methods & clinical development · 2022Article
- Advances of Epigenetic Biomarkers and Epigenome Editing for Early Diagnosis in Breast Cancer.International journal of molecular sciences · 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
- Detection of Novel Biallelic Causative Variants inDiagnostics (Basel, Switzerland) · 2022Article
- Future applications of 3D bioprinting: A promising technology for treating recessive dystrophic epidermolysis bullosa.Experimental dermatology · 2022Article
- Investigational Treatments for Epidermolysis Bullosa.American journal of clinical dermatology · 2021Review
- Future Perspectives of Oral Delivery of Next Generation Therapies for Treatment of Skin Diseases.Pharmaceutics · 2021Review
- A non-viral and selection-freeMolecular therapy. Nucleic acids · 2021Article
- Ex vivo gene modification therapy for genetic skin diseases-recent advances in gene modification technologies and delivery.Experimental dermatology · 2021Review
- Correction of recessive dystrophic epidermolysis bullosa by homology-directed repair-mediated genome editing.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Pathogenetic Therapy of Epidermolysis Bullosa: Current State and Prospects.Bulletin of experimental biology and medicine · 2021Review
- Gene Replacement Therapies for Genodermatoses: AFrontiers in genetics · 2021Review
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
- Toward Combined Cell and Gene Therapy for Genodermatoses.Cold Spring Harbor perspectives in biology · 2020Review
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clonal gene therapy protocols based on the precise manipulation of epidermal stem cells require highly efficient gene-editing molecular tools. We have combined adeno-associated virus (AAV)-mediated delivery of donor template DNA with transcription activator-like nucleases (TALE) expressed by adenoviral vectors to address the correction of the c.6527insC mutation in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa in a high percentage of Spanish patients. After transduction with these viral vectors, high frequencies of homology-directed repair were found in clones of keratinocytes derived from a recessive dystrophic epidermolysis bullosa (RDEB) patient homozygous for the c.6527insC mutation. Gene-edited clones recovered the expression of the COL7A1 transcript and collagen VII protein at physiological levels. In addition, treatment of patient keratinocytes with TALE nucleases in the absence of a donor template DNA resulted in nonhomologous end joining (NHEJ)-mediated indel generation in the vicinity of the c.6527insC mutation site in a large proportion of keratinocyte clones. A subset of these indels restored the reading frame of COL7A1 and resulted in abundant, supraphysiological expression levels of mutant or truncated collagen VII protein. Keratinocyte clones corrected both by homology-directed repair (HDR) or NHEJ were used to regenerate skin displaying collagen VII in the dermo-epidermal junction.
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Registered trials
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