ArticleMolecular therapy. Nucleic acids2018
Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.
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 29 papers.
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Who cites it
29 citing papers in PubMed, 47 citations in OpenAlex.
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- Clinical and genetic study of a family with epidermolysis bullosa simplex caused by a novelIntractable & rare diseases research · 2025Article
- Sephardic origins revealed for rare skin disorder, recessive dystrophic epidermolysis bullosa, in individuals carrying the unique c.6527insC mutation.Journal of medical genetics · 2025Article
- Phenotypic Characteristics of a Patient Cohort With Recessive Dystrophic Epidermolysis Bullosa and the Pathogenic Variant c.7485+5G>A in Intron 98 of COL7A1.American journal of medical genetics. Part A · 2025Article
- Progress in skin gene therapy: From the inside and out.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Functional genotype classification groups distinguish disease severity in recessive dystrophic epidermolysis bullosa.The British journal of dermatology · 2025Article
- Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa.Journal of applied genetics · 2024Review
- Twin Prime Editing Mediated Exon Skipping/Reinsertion for Restored Collagen VII Expression in Recessive Dystrophic Epidermolysis Bullosa.The Journal of investigative dermatology · 2024Article
- 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
- Challenges of Gene Editing Therapies for Genodermatoses.International journal of molecular sciences · 2023Review
- Preclinical model for phenotypic correction of dystrophic epidermolysis bullosa byMolecular therapy. Methods & clinical development · 2022Article
- 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
- Non-viral delivery of CRISPR-Cas9 complexes for targeted gene editing via a polymer delivery system.Gene therapy · 2022Article
- Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.American journal of medical genetics. Part A · 2021Article
- 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
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
- Gene Replacement Therapies for Genodermatoses: AFrontiers in genetics · 2021Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recessive dystrophic epidermolysis bullosa is a severe skin fragility disease caused by loss of functional type VII collagen at the dermal-epidermal junction. A frameshift mutation in exon 80 of COL7A1 gene, c.6527insC, is highly prevalent in the Spanish patient population. We have implemented gene-editing strategies for COL7A1 frame restoration by NHEJ-induced indels in epidermal stem cells from patients carrying this mutation. TALEN nucleases designed to cut within the COL7A1 exon 80 sequence were delivered to primary patient keratinocyte cultures by non-integrating viral vectors. After genotyping a large collection of vector-transduced patient keratinocyte clones with high proliferative potential, we identified a significant percentage of clones with COL7A1 reading frame recovery and Collagen VII protein expression. Skin equivalents generated with cells from a clone lacking exon 80 entirely were able to regenerate phenotypically normal human skin upon their grafting onto immunodeficient mice. These patient-derived human skin grafts showed Collagen VII deposition at the basement membrane zone, formation of anchoring fibrils, and structural integrity when analyzed 12 weeks after grafting. Our data provide a proof-of-principle for recessive dystrophic epidermolysis bullosa treatment through ex vivo gene editing based on removal of pathogenic mutation-containing, functionally expendable COL7A1 exons in patient epidermal stem cells.
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