ArticleMolecular therapy : the journal of the American Society of Gene Therapy2016
Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 47 citations in OpenAlex.
- Trypsin Digestion to Assess Triple Helix Stability in Collagens as Measure of Collagen Folding.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.International journal of molecular sciences · 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
- Highly efficient CRISPR/Cas9-mediated exon skipping for recessive dystrophic epidermolysis bullosa.Bioengineering & translational medicine · 2024Article
- CRISPR-Cas9-based non-viral gene editing therapy for topical treatment of recessive dystrophic epidermolysis bullosa.Molecular therapy. Methods & clinical development · 2023Article
- Ensemble-Learning and Feature Selection Techniques for Enhanced Antisense Oligonucleotide Efficacy Prediction in Exon Skipping.Pharmaceutics · 2023Article
- Innovations in the Treatment of Dystrophic Epidermolysis Bullosa (DEB): Current Landscape and Prospects.Therapeutics and clinical risk management · 2023Review
- Integrated Management Strategies for Epidermolysis Bullosa: Current Insights.International journal of general medicine · 2022Review
- In Vivo Models for the Evaluation of Antisense Oligonucleotides in Skin.Methods in molecular biology (Clifton, N.J.) · 2022Article
- In Vitro Models for the Evaluation of Antisense Oligonucleotides in Skin.Methods in molecular biology (Clifton, N.J.) · 2022Article
- Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.International journal of molecular sciences · 2021Review
- 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
- Clinical Perspectives of Gene-Targeted Therapies for Epidermolysis Bullosa.Dermatology and therapy · 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
- Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease.Disease models & mechanisms · 2021Article
- Challenges in Treating Genodermatoses: New Therapies at the Horizon.Frontiers in pharmacology · 2021Review
- Nonsequential Splicing Events Alter Antisense-Mediated Exon Skipping Outcome inInternational journal of molecular sciences · 2020Article
- Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.Molecular diagnosis & therapy · 2020Review
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
Genetically evoked deficiency of collagen VII causes dystrophic epidermolysis bullosa (DEB)-a debilitating disease characterized by chronic skin fragility and progressive fibrosis. Removal of exons carrying frame-disrupting mutations can reinstate protein expression in genetic diseases. The therapeutic potential of this approach is critically dependent on gene, protein, and disease intrinsic factors. Naturally occurring exon skipping in COL7A1, translating collagen VII, suggests that skipping of exons containing disease-causing mutations may be feasible for the treatment of DEB. However, despite a primarily in-frame arrangement of exons in the COL7A1 gene, no general conclusion of the aptitude of exon skipping for DEB can be drawn, since regulation of collagen VII functionality is complex involving folding, intra- and intermolecular interactions. To directly address this, we deleted two conceptually important exons located at both ends of COL7A1, exon 13, containing recurrent mutations, and exon 105, predicted to impact folding. The resulting recombinantly expressed proteins showed conserved functionality in biochemical and in vitro assays. Injected into DEB mice, the proteins promoted skin stability. By demonstrating functionality of internally deleted collagen VII variants, our study provides support of targeted exon deletion or skipping as a potential therapy to treat a large number of individuals with DEB.
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