ArticleMolecular therapy : the journal of the American Society of Gene Therapy2024
Allele-specific CRISPR-Cas9 editing of dominant epidermolysis bullosa simplex in human epidermal stem cells.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 17 citations in OpenAlex.
- From the Microscope to the Genome: A New Era in the Molecular Genetics of Epidermolysis Bullosa.International journal of molecular sciences · 2026Review
- Treatment Landscape for Epidermolysis Bullosa Simplex: A Review of Established and Emerging Therapies.Pediatric dermatology · 2026Review
- Developing CRISPR-Based Therapies for Epidermolysis Bullosa: A Comprehensive Review of Current Strategies.Drugs · 2026Review
- Leveraging human genetic variation to therapeutically target hundreds of genes with dominant & dispensable disease alleles.medRxiv : the preprint server for health sciences · 2026Article
- CRISPR-SWITCH (silent mutations with intention to create heterozygotes): a strategy for monoallelic genome editing and generation of aFrontiers in genome editing · 2026Article
- Allele-specific disruption of KRAS p.G12V in colorectal cancer cells using electroporated Cas9 RNPs.Iranian journal of basic medical sciences · 2026Article
- Gene therapy for genodermatoses at the crossroads of innovation and clinical translation.Frontiers in bioengineering and biotechnology · 2026Review
- How far have we come? From understanding collagen disorders to advancing treatment strategies.Gene therapy · 2025Article
- Biosafety considerations triggered by genome-editing technologies.Biosafety and health · 2025Review
- Enhanced HDR-mediated correction of heterozygousMolecular therapy. Nucleic acids · 2025Article
- CATS: a bioinformatic tool for automated Cas9 nucleases activity comparison in clinically relevant contexts.Frontiers in genome editing · 2025Article
- Allele-specific CRISPR-Cas9 editing inactivates a single-nucleotide variant associated with collagen VI muscular dystrophy.Molecular therapy. Nucleic acids · 2024Article
- Biochemical characterization of the feedforward loop between CDK1 and FOXM1 in epidermal stem cells.Biology direct · 2024Article
- A cellular disease model toward gene therapy ofMolecular therapy. Methods & clinical development · 2024Article
- Epidermal stem cells: skin surveillance and clinical perspective.Journal of translational medicine · 2024Review
- Coordinating energy metabolism and signaling pathways in epithelial self-renewal and differentiation.Biology direct · 2024Review
- Biochemical role of FOXM1-dependent histone linker H1B in human epidermal stem cells.Cell death & disease · 2024Article
- [Cell therapy and wound repair].Zhonghua shao shang yu chuang mian xiu fu za zhi · 2024Review
- Advanced gene-editing strategy for epidermolysis bullosa simplex.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Article
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Authors and funding
15 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Epidermolysis bullosa simplex (EBS) is a rare skin disease inherited mostly in an autosomal dominant manner. Patients display a skin fragility that leads to blisters and erosions caused by minor mechanical trauma. EBS phenotypic and genotypic variants are caused by genetic defects in intracellular proteins whose function is to provide the attachment of basal keratinocytes to the basement membrane zone and most EBS cases display mutations in keratin 5 (KRT5) and keratin 14 (KRT14) genes. Besides palliative treatments, there is still no long-lasting effective cure to correct the mutant gene and abolish the dominant negative effect of the pathogenic protein over its wild-type counterpart. Here, we propose a molecular strategy for EBS01 patient's keratinocytes carrying a monoallelic c.475/495del21 mutation in KRT14 exon 1. Through the CRISPR-Cas9 system, we perform a specific cleavage only on the mutant allele and restore a normal cellular phenotype and a correct intermediate filament network, without affecting the epidermal stem cell, referred to as holoclones, which play a crucial role in epidermal regeneration.
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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.