The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells
Open accessAbstract
Summary 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 725kb reframed the DMD gene. This is the largest CRISPR/Cas9-mediated deletion shown to date in DMD. Use of hiPSCs allowed for 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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
In vivo gene editing in dystrophic mouse muscle and muscle stem cells
Tabebordbar, M., Zhu, K., Cheng, J. K. W., Chew, W. L., Widrick, J. J., Yan, W. X., Maesner, C., Wu, E. Y., Xiao, R., Ran, F. A., et al. (2016) · Science · doi:10.1126/science.aad5177 · Cited by 1,046
Prevention of muscular dystrophy in mice by CRISPR/Cas9–mediated editing of germline DNA
Long, C., McAnally, J. R., Shelton, J. M., Mireault, A. A., Bassel-Duby, R., & Olson, E. N. (2014) · Science · doi:10.1126/science.1254445 · Cited by 720
Ousterout, D. G., Kabadi, A. M., Thakore, P. I., Majoros, W. H., Reddy, T. E., & Gersbach, C. A. (2015) · Nature Communications · doi:10.1038/ncomms7244 · Cited by 470
Cited by
The next generation of CRISPR–Cas technologies and applications
Pickar-Oliver, A., & Gersbach, C. A. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0131-5 · Cited by 1,459
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy
Amoasii, L., Hildyard, J. C. W., Li, H., Sanchez-Ortiz, E., Mireault, A., Caballero, D., Harron, R., Stathopoulou, T.-R., Massey, C., Shelton, J. M., et al. (2018) · Science · doi:10.1126/science.aau1549 · Cited by 546
Induced Pluripotent Stem Cells Meet Genome Editing
Hockemeyer, D., & Jaenisch, R. (2016) · Cell Stem Cell · doi:10.1016/j.stem.2016.04.013 · Cited by 499
“…challenge, recent studies used creative ways to take advantage of NHEJmeditated genome editing and the fact that the simultaneous expression of two nucleases can meditate the excision or inversion of the sequence internal to the two SSN (Chiba et al., 2015; (Chen et al., 2011; Young et al., 2016).”
BackgroundMethodChoi, J.-H., Lim, J., Shin, M., Paek, S.-H., & Choi, J.-W. (2021) · Nano Letters · doi:10.1021/acs.nanolett.0c04303 · Cited by 382
Therapeutic developments for Duchenne muscular dystrophy
Verhaart, I. E. C., & Aartsma-Rus, A. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0203-3 · Cited by 377
Metadata
- Authors
- Young, C. S., Hicks, M. R., Ermolova, N. V., Nakano, H., Jan, M., Younesi, S., Karumbayaram, S., Kumagai-Cresse, C., Wang, D., Zack, J. A., Kohn, D. B., Nakano, A., Nelson, S. F., Miceli, M. C., Spencer, M. J., & Pyle, A. D.
- Venue
- Cell Stem Cell
- Publisher
- Elsevier BV
- Published
- 2016-04
- Volume
- 18
- Issue
- 4
- Pages
- 533-540
- ISSN
- 1875-9777 (ISSN-L)
- 1934-5909
- OpenAlex
- W2257132471
- Cited by
- 383
- References
- 3
- FWCI
- 22.27
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells. https://app.cochat.ai/papers/10.1016/j.stem.2016.01.021
- The paper
- Young, C. S., Hicks, M. R., Ermolova, N. V., Nakano, H., Jan, M., Younesi, S., Karumbayaram, S., Kumagai-Cresse, C., Wang, D., Zack, J. A., Kohn, D. B., Nakano, A., Nelson, S. F., Miceli, M. C., Spencer, M. J., & Pyle, A. D. (2016). A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells. Cell Stem Cell. https://doi.org/10.1016/j.stem.2016.01.021
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
