ArticleMolecular therapy : the journal of the American Society of Gene Therapy2015
Correction of dystrophin expression in cells from Duchenne muscular dystrophy patients through genomic excision of exon 51 by zinc finger nucleases.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers.
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Who cites it
55 citing papers in PubMed, 110 citations in OpenAlex.
- DNA recognition, cleavage, and toxic metal ion interaction of an artificial zinc finger protein inside E. coli cells.Protein science : a publication of the Protein Society · 2026Article
- Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping.Journal of neuromuscular diseases · 2025Review
- Circadian Clock in Muscle Disease Etiology and Therapeutic Potential for Duchenne Muscular Dystrophy.International journal of molecular sciences · 2024Review
- Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle.Journal of biosciences · 2024Review
- Zinc binding of a Cys2His2-type zinc finger protein is enhanced by the interaction with DNA.Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry · 2023Article
- High-capacity adenovector delivery of forced CRISPR-Cas9 heterodimers fosters precise chromosomal deletions in human cells.Molecular therapy. Nucleic acids · 2023Article
- Delivery challenges for CRISPR-Cas9 genome editing for Duchenne muscular dystrophy.Biophysics reviews · 2023Review
- Full-length dystrophin restoration via targeted exon integration by AAV-CRISPR in a humanized mouse model of Duchenne muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2021Article
- Dystrophin gene editing by CRISPR/Cas9 system in human skeletal muscle cell line (HSkMC).Iranian journal of basic medical sciences · 2021Article
- Nanomedicine for Gene Delivery and Drug Repurposing in the Treatment of Muscular Dystrophies.Pharmaceutics · 2021Review
- Current Pharmacological Strategies for Duchenne Muscular Dystrophy.Frontiers in cell and developmental biology · 2021Review
- Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.Nature communications · 2020Article
- Natural products, PGC-1Acta pharmaceutica Sinica. B · 2020Review
- Article
- Innovative Therapeutic and Delivery Approaches Using Nanotechnology to Correct Splicing Defects Underlying Disease.Frontiers in genetics · 2020Review
- (Epi)genetic Modifications in Myogenic Stem Cells: From Novel Insights to Therapeutic Perspectives.Cells · 2019Review
- Review
- Gene Therapy for Heart Failure: New Perspectives.Current heart failure reports · 2018Review
- Myoediting: Toward Prevention of Muscular Dystrophy by Therapeutic Genome Editing.Physiological reviews · 2018Review
- Functional Rescue of Dystrophin Deficiency in Mice Caused by Frameshift Mutations Using Campylobacter jejuni Cas9.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
Abstract
Duchenne muscular dystrophy (DMD) is caused by genetic mutations that result in the absence of dystrophin protein expression. Oligonucleotide-induced exon skipping can restore the dystrophin reading frame and protein production. However, this requires continuous drug administration and may not generate complete skipping of the targeted exon. In this study, we apply genome editing with zinc finger nucleases (ZFNs) to permanently remove essential splicing sequences in exon 51 of the dystrophin gene and thereby exclude exon 51 from the resulting dystrophin transcript. This approach can restore the dystrophin reading frame in ~13% of DMD patient mutations. Transfection of two ZFNs targeted to sites flanking the exon 51 splice acceptor into DMD patient myoblasts led to deletion of this genomic sequence. A clonal population was isolated with this deletion and following differentiation we confirmed loss of exon 51 from the dystrophin mRNA transcript and restoration of dystrophin protein expression. Furthermore, transplantation of corrected cells into immunodeficient mice resulted in human dystrophin expression localized to the sarcolemmal membrane. Finally, we quantified ZFN toxicity in human cells and mutagenesis at predicted off-target sites. This study demonstrates a powerful method to restore the dystrophin reading frame and protein expression by permanently deleting exons.
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