ArticleCell stem cell2016
A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells.
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Article in Cell stem cell, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 253 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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253citing papers in PubMed, 2 pooled it
25.8field-weighted citation impact, top 1% of its field
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Who cites it
253 citing papers in PubMed, 2 syntheses or guidelines pooled it, 374 citations in OpenAlex.
- Muscle and cardiac therapeutic strategies for Duchenne muscular dystrophy: past, present, and future.Pharmacological reports : PR · 2020Pooled it
- CRISPR-cas gene-editing as plausible treatment of neuromuscular and nucleotide-repeat-expansion diseases: A systematic review.PloS one · 2019Pooled it
- Engineered muscle tissues with enhanced maturation enable the identification of clinically relevant rAAV products.Molecular therapy. Advances · 2026Article
- Age-Dependent Effect of Myostatin Blockade in theMuscles (Basel, Switzerland) · 2026Article
- Stem Cell and Stem Cell-Derived Extracellular Vesicles: Therapeutic Potential and Mechanistic Insights in Anti-Aging.Stem cell reviews and reports · 2026Review
- Duchenne muscular dystrophy: from gene to gene-ius therapies.Skeletal muscle · 2026Review
- A primer on prime: A prime editing update from advances to first-in-human trial.Molecular therapy : the journal of the American Society of Gene Therapy · 2026Review
- From mechanism to medicine: CRISPR‒Cas9 delivery strategies, therapeutic applications and translation challenges.Discover nano · 2026Review
- Gene Editing Strategies for Duchenne Muscular Dystrophy: From Molecular Mechanisms to Clinical Translation.Cells · 2026Review
- Heterogeneous nuclear ribonucleoprotein A1 (hnRNPA1) maintains muscle progenitor identity by stabilizing the Ppp1r1b-lncRNA-PRC2 complex.Nucleic acids research · 2026Article
- Structural and functional bases of F. rodentium Cas9 provide insights into CRISPR-Cas protein engineering.Cell genomics · 2026Article
- Genome writing and Targeted Delivery of thebioRxiv : the preprint server for biology · 2026Article
- Bridging science and hope: the evolving story of gene therapy for neuromuscular diseases.Frontiers in cell and developmental biology · 2026Review
- Transcytotic transportation of size-controlled nanocarriers into dystrophic skeletal muscle leads to therapeutic outcome in mice.Nature communications · 2025Article
- Cell therapy for Duchenne muscular dystrophy: promises, challenges, and controversies.Cellular and molecular life sciences : CMLS · 2025Review
- Combining Multiplexed CRISPR/Cas9-Nickase and PARP Inhibitors Efficiently and Precisely Targets Cancer Cells.Cancer research · 2025Article
- Advancing adeno-associated virus for Duchenne muscular dystrophy treatment: Moving beyond rodent models.Molecular therapy. Methods & clinical development · 2025Article
- CRISPR-directed exon skipping; friend or foe (opportunity or warning sign)?Molecular therapy. Nucleic acids · 2025Article
- The road toward AAV-mediated gene therapy of Duchenne muscular dystrophy.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Review
- Preclinical development of genome editing to treat Duchenne muscular dystrophy by exon skipping.Journal of neuromuscular diseases · 2025Review
193 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 3 institutions in 1 country.
Courtney S YoungMolecular Biology Institute, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Neurology, University of California, Los Angeles, CA 90095, USA.
Michael R HicksCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA.
Natalia V ErmolovaCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Neurology, University of California, Los Angeles, CA 90095, USA.
Haruko NakanoEli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Molecular, Cell, and Developmental Biology, University of California, Los Angeles, CA 90095, USA.
Majib JanCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA; CIRM Bridges Program, California State University, Northridge, CA 91330, USA.
Shahab YounesiCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA; CIRM Bridges Program, California State University, Northridge, CA 91330, USA.
Saravanan KarumbayaramEli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA.
Chino Kumagai-CresseCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Neurology, University of California, Los Angeles, CA 90095, USA.
Derek WangCenter for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA.
Jerome A ZackMolecular Biology Institute, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA.
Donald B KohnMolecular Biology Institute, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA.
Atsushi NakanoMolecular Biology Institute, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Molecular, Cell, and Developmental Biology, University of California, Los Angeles, CA 90095, USA.
Stanley F NelsonMolecular Biology Institute, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Human Genetics, University of California, Los Angeles, CA 90095, USA.
M Carrie MiceliMolecular Biology Institute, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA.
Melissa J SpencerMolecular Biology Institute, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Neurology, University of California, Los Angeles, CA 90095, USA. Electronic address: mspencer@mednet.ucla.edu.
April D PyleMolecular Biology Institute, University of California, Los Angeles, CA 90095, USA; Center for Duchenne Muscular Dystrophy, University of California, Los Angeles, CA 90095, USA; Eli and Edythe Broad Center of Regenerative Medicine and Stem Cell Research, University of California, Los Angeles, CA 90095, USA; Department of Microbiology, Immunology, and Molecular Genetics, University of California, Los Angeles, CA 90095, USA. Electronic address: apyle@mednet.ucla.edu.
University of California, Los Angeles · USBroad Center · USCalifornia State University, Northridge · US
Funding
Women's CancersP30CA016042 · NCI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Samuel Wheeler French · 1985 to 2026
$134.5MVirology CoreP30AI028697 · NIAID · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ANTON, PETER A · 1991 to 2018
$39.9MPilot and Feasibility ProgramP30DK041301 · NIDDK · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI ROZENGURT, JUAN ENRIQUE · 1990 to 2019
$18.0MReprogramming and Directed Differentiation of Skeletal Muscle Cells from hPSCs.R01AR064327 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI April D Pyle · 2013 to 2026
$6.4MUCLA Muscular Dystrophy Core CenterP30AR057230 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI SPENCER, MELISSA JAN · 2009 to 2018
$6.2MMuscle Cell Biology, Pathophysiology, and TherapeuticsT32AR065972 · NIAMS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Rachelle Hope Crosbie, THOMAS A. RANDO · 2016 to 2026
$3.9MNCI NIH HHS P30 CA016042NIAID NIH HHS 5P30 AI028697NIAID NIH HHS AI028697NIAID NIH HHS P30 AI028697NIAMS NIH HHS P30 AR057230NIAMS NIH HHS R01 AR064327NIAMS NIH HHS R01AR064327NIAMS NIH HHS T32 AR065972NIDDK NIH HHS P30 DK041301
Abstract
Mutations in DMD disrupt the reading frame, prevent dystrophin translation, and cause Duchenne muscular dystrophy (DMD). Here we describe a CRISPR/Cas9 platform applicable to 60% of DMD patient mutations. We applied the platform to DMD-derived hiPSCs where successful deletion and non-homologous end joining of up to 725 kb reframed the DMD gene. This is the largest CRISPR/Cas9-mediated deletion shown to date in DMD. Use of hiPSCs allowed evaluation of dystrophin in disease-relevant cell types. Cardiomyocytes and skeletal muscle myotubes derived from reframed hiPSC clonal lines had restored dystrophin protein. The internally deleted dystrophin was functional as demonstrated by improved membrane integrity and restoration of the dystrophin glycoprotein complex in vitro and in vivo. Furthermore, miR31 was reduced upon reframing, similar to observations in Becker muscular dystrophy. This work demonstrates the feasibility of using a single CRISPR pair to correct the reading frame for the majority of DMD patients.
Indexed as
Gene DeletionAnimalsCRISPR-Cas SystemsDystrophinGene EditingHumansInduced Pluripotent Stem CellsMiceMice, SCIDMuscle, SkeletalMuscular Dystrophy, DuchenneDystrophin
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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.