The DOI matches its Crossref record; 75 of the 75 references it cites were found in a registry or an index.
Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches
Abstract
Duchenne muscular dystrophy (DMD), a rare genetic disorder characterized by progressive muscle weakness, is caused by the absence or a decreased amount of the muscle cytoskeletal protein dystrophin. Currently, several therapeutic approaches to cure DMD are being investigated, which can be categorized into two groups: therapies that aim to restore dystrophin expression, and those that aim to compensate for the lack of dystrophin. Therapies that restore dystrophin expression include read-through therapy, exon skipping, vector-mediated gene therapy, and cell therapy. Of these approaches, the most advanced are the read-through and exon skipping therapies. In 2014, ataluren, a drug that can promote ribosomal read-through of mRNA containing a premature stop codon, was conditionally approved in Europe. In 2016, eteplirsen, a morpholino-based chemical capable of skipping exon 51 in premature mRNA, received conditional approval in the USA. Clinical trials on vector-mediated gene therapy carrying micro- and mini- dystrophin are underway. More innovative therapeutic approaches include CRISPR/Cas9-based genome editing and stem cell-based cell therapies. Here we review the current status of therapeutic approaches for DMD, focusing on therapeutic approaches that can restore dystrophin.
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.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Despite considerable efforts, the treatment available for DMD remains supportive rather than curative.”
From Mechanism and Applications of CRISPR/Cas-9-Mediated Genome Editing (2021) · cites this paper as [36]
Experimental — accuracy not yet measuredThe cited source says what the claim attributes to it.
In the citing paper
“Currently, several therapeutic approaches (gene therapy, cell therapy, and exon skipping) have been investigated to restore the expression of dystrophin in DMD muscles.35,36”
From Mechanism and Applications of CRISPR/Cas-9-Mediated Genome Editing (2021) · cites this paper as [36]
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
SATELLITE CELL OF SKELETAL MUSCLE FIBERS
Mauro, A. (1961) · The Journal of Cell Biology · doi:10.1083/jcb.9.2.493 · Cited by 3,683
Update on Key Emerging Challenges in Cystic Fibrosis
Jennings, M. T., Riekert, K. A., & Boyle, M. (2014) · Medical Principles and Practice · doi:10.1159/000357646 · Cited by 3,671
The Molecular Basis of Muscular Dystrophy in the mdx Mouse: a Point Mutation
Sicinski, P., Geng, Y., Ryder-Cook, A. S., Barnard, E. A., Darlison, M. G., & Barnard, P. J. (1989) · Science · doi:10.1126/science.2662404 · Cited by 1,276
PTC124 targets genetic disorders caused by nonsense mutations
Welch, E. M., Barton, E. R., Zhuo, J., Tomizawa, Y., Friesen, W. J., Trifillis, P., Paushkin, S., Patel, M., Trotta, C. R., Hwang, S., et al. (2007) · Nature · doi:10.1038/nature05756 · Cited by 1,137
Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle
Ervasti, J. M., Ohlendieck, K., Kahl, S. D., Gaver, M. G., & Campbell, K. P. (1990) · Nature · doi:10.1038/345315a0 · Cited by 1,033
Pericytes of human skeletal muscle are myogenic precursors distinct from satellite cells
Dellavalle, A., Sampaolesi, M., Tonlorenzi, R., Tagliafico, E., Sacchetti, B., Perani, L., Innocenzi, A., Gálvez, B. G., Messina, G., Roberta Morosetti, A., et al. (2007) · Nature Cell Biology · doi:10.1038/ncb1542 · Cited by 1,027
Koenig, M., Beggs, A. H., Moyer, M., Scherpf, S., Heindrich, K., Bettecken, T., Meng, G., Müller, C. R., Lindlöf, M., Kääriäinen, H. A., et al. (1989) · Europe PMC (PubMed Central) · Cited by 961
Eteplirsen for the treatment of Duchenne muscular dystrophy
Mendell, J. R., Rodino‐Klapac, L. R., Sahenk, Z., Roush, K., Bird, L., Lowes, L. P., Alfano, L., Gomez, A. M., Lewis, S., Kota, J., et al. (2013) · Annals of Neurology · doi:10.1002/ana.23982 · Cited by 817
Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs
Sampaolesi, M., Blot, S., D’Antona, G., Granger, N., Tonlorenzi, R., Innocenzi, A., Mognol, P., Thibaud, J.-L., Galvez, B. G., Barthélémy, I., et al. (2006) · Nature · doi:10.1038/nature05282 · Cited by 769
The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations
Bladen, C. L., Salgado, D., Monges, S., Foncuberta, M. E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Roy, A. J., Chamova, T., et al. (2015) · Human Mutation · doi:10.1002/humu.22758 · Cited by 729
Cited by
Mechanism and Applications of CRISPR/Cas-9-Mediated Genome Editing
Mengstie, M. A., & Wondimu, B. Z. (2021) · Biologics: Targets and Therapy · doi:10.2147/btt.s326422 · Cited by 478
Molecular Therapies for Inherited Retinal Diseases—Current Standing, Opportunities and Challenges
Vázquez-Domínguez, I., Garanto, A., & Collin, R. W. J. (2019) · Genes · doi:10.3390/genes10090654 · Cited by 80
Metadata
- Authors
- Shimizu-Motohashi, Y., Komaki, H., Motohashi, N., Takeda, S., Yokota, T., & Aoki, Y.
- Affiliations
- Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan
- Translational Medical Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan
- Department of Geriatric Medicine, Tokyo Metropolitan Institute of Gerontology, Itabashi, Tokyo, 173-0015, Japan
- Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan
- Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta. 831 Medical Sciences Building, 8613-114 St., Edmonton, AB T6G 2H7, Canada
- ORCID
- Yokota, Toshifumi
- Venue
- Journal of Personalized Medicine
- Publisher
- MDPI AG
- Published
- 2019-01-07
- Volume
- 9
- Issue
- 1
- Pages
- 1
- ISSN
- 2075-4426
- PMC
- PMC6462907
- Cited by
- 82
- References
- 75
- Language
- en
- Funders
- Japan Society for the Promotion of Science (18K07544)
- Research on Nervous and Mental Disorders (28-6)
- Japan Agency for Medical Research and Development (18ek0109239h0002, 18lm0203066h0001, 18lm0203069h0001)
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: Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches. https://app.cochat.ai/papers/10.3390/jpm9010001
- The paper
- Shimizu-Motohashi, Y., Komaki, H., Motohashi, N., Takeda, S., Yokota, T., & Aoki, Y. (2019). Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches. Journal of Personalized Medicine. https://doi.org/10.3390/jpm9010001
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.
