ArticleGene therapy2016
Construction and validation of an RNA trans-splicing molecule suitable to repair a large number of COL7A1 mutations.
Article in Gene therapy, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 36 citations in OpenAlex.
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa.Journal of applied genetics · 2024Review
- RNA exon editing: Splicing the way to treat human diseases.Molecular therapy. Nucleic acids · 2024Review
- Pathological Mechanisms Involved in Epidermolysis Bullosa Simplex: Current Knowledge and Therapeutic Perspectives.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
- Stairways to Advanced Therapies for Epidermolysis Bullosa.Cold Spring Harbor perspectives in biology · 2023Review
- Article
- Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- 5'RNAInternational journal of molecular sciences · 2022Article
- Evaluating a Targeted Cancer Therapy Approach Mediated by RNAInternational journal of molecular sciences · 2022Article
- Integrated Management Strategies for Epidermolysis Bullosa: Current Insights.International journal of general medicine · 2022Review
- Pathogenetic Therapy of Epidermolysis Bullosa: Current State and Prospects.Bulletin of experimental biology and medicine · 2021Review
- Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.Molecular diagnosis & therapy · 2020Review
- Improved Double-Nicking Strategies for COL7A1-Editing by Homologous Recombination.Molecular therapy. Nucleic acids · 2019Article
- Epidermolysis bullosa: Advances in research and treatment.Experimental dermatology · 2019Review
- An ex vivo RNA trans-splicing strategy to correct human generalized severe epidermolysis bullosa simplex.The British journal of dermatology · 2019Article
- Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA.Molecular therapy. Nucleic acids · 2018Article
- RNA Trans-Splicing Modulation via Antisense Molecule Interference.International journal of molecular sciences · 2018Article
- Inside out: regenerative medicine for recessive dystrophic epidermolysis bullosa.Pediatric research · 2018Review
- COL7A1 Editing via CRISPR/Cas9 in Recessive Dystrophic Epidermolysis Bullosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2017Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
RNA trans-splicing has become a versatile tool in the gene therapy of monogenetic diseases. This technique is especially valuable for the correction of mutations in large genes such as COL7A1, which underlie the dystrophic subtype of the skin blistering disease epidermolysis bullosa. Over 800 mutations spanning the entire length of the COL7A1 gene have been associated with defects in type VII collagen, leading to excessive fragility of epithelial tissues, the hallmark of dystrophic epidermolysis bullosa (DEB). In the present study, we designed an RNA trans-splicing molecule (RTM) that is capable of repairing any given mutation within a 4200 nucleotide region spanning the 3' half of COL7A1. The selected RTM, RTM28, was able to induce accurate trans-splicing into endogenous COL7A1 pre-mRNA transcripts in a type VII collagen-deficient DEB patient-derived cell line. Correct trans-splicing was detected at the RNA level by semiquantitative RT-PCR and correction of full-length type VII collagen was confirmed at the protein level by immunofluorescence and western blot analyses. Our results demonstrate that RTM28, which covers >60% of all mutations reported in DEB and is thus the longest RTM described so far for the repair of COL7A1, represents a promising candidate for therapeutic applications.
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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.