{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,4]],"date-time":"2026-11-04T17:16:02Z","timestamp":1793812562281,"version":"4.6.1"},"reference-count":83,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2019,1,7]],"date-time":"2019-01-07T00:00:00Z","timestamp":1546819200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["18K07544"],"award-info":[{"award-number":["18K07544"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Research on Nervous and Mental Disorders","award":["28-6"],"award-info":[{"award-number":["28-6"]}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18ek0109239h0002"],"award-info":[{"award-number":["18ek0109239h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18lm0203066h0001"],"award-info":[{"award-number":["18lm0203066h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18lm0203069h0001"],"award-info":[{"award-number":["18lm0203069h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/jpm9010001","type":"journal-article","created":{"date-parts":[[2019,1,10]],"date-time":"2019-01-10T03:22:31Z","timestamp":1547090551000},"page":"1","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":82,"title":["Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: Current Status of Therapeutic Approaches"],"prefix":"10.3390","volume":"9","author":[{"given":"Yuko","family":"Shimizu-Motohashi","sequence":"first","affiliation":[{"name":"Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8551, Japan"},{"name":"Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hirofumi","family":"Komaki","sequence":"additional","affiliation":[{"name":"Translational Medical Center, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Motohashi","sequence":"additional","affiliation":[{"name":"Department of Geriatric Medicine, Tokyo Metropolitan Institute of Gerontology, Itabashi, Tokyo, 173-0015, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shin\u2019ichi","family":"Takeda","sequence":"additional","affiliation":[{"name":"Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6672-6742","authenticated-orcid":false,"given":"Toshifumi","family":"Yokota","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta. 831 Medical Sciences Building, 8613-114 St., Edmonton, AB T6G 2H7, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshitsugu","family":"Aoki","sequence":"additional","affiliation":[{"name":"Department of Molecular Therapy, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2019,1,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/345315a0","article-title":"Deficiency of a glycoprotein component of the dystrophin complex in dystrophic muscle","volume":"345","author":"Ervasti","year":"1990","journal-title":"Nature"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1083\/jcb.128.3.355","article-title":"Mechanical function of dystrophin in muscle cells","volume":"128","author":"Pasternak","year":"1995","journal-title":"J. Cell Biol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"248","DOI":"10.3988\/jcn.2015.11.3.248","article-title":"Clinical and genetic characterization of female Dystrophinopathy","volume":"11","author":"Lee","year":"2015","journal-title":"J. Clin. Neurol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/j.nmd.2010.09.006","article-title":"Duchenne muscular dystrophy: Survival by cardio-respiratory interventions","volume":"21","author":"Ishikawa","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1002\/humu.22758","article-title":"The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne muscular dystrophy mutations","volume":"36","author":"Bladen","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_6","first-page":"498","article-title":"The molecular basis for Duchenne versus Becker muscular dystrophy: Correlation of severity with type of deletion","volume":"45","author":"Koenig","year":"1989","journal-title":"Am. J. Hum. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1038\/nature05756","article-title":"PTC124 targets genetic disorders caused by nonsense mutations","volume":"447","author":"Welch","year":"2007","journal-title":"Nature"},{"key":"ref_8","first-page":"2471","article-title":"Recent advances in innovative therapeutic approaches for Duchenne muscular dystrophy: From discovery to clinical trials","volume":"8","author":"Miyatake","year":"2016","journal-title":"Am. J. Transl. Res."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1016\/S0140-6736(17)31611-2","article-title":"Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): A multicentre, randomised, double-blind, placebo-controlled, phase 3 trial","volume":"390","author":"McDonald","year":"2017","journal-title":"Lancet"},{"key":"ref_10","first-page":"93","article-title":"Misreading of RNA codewords induced by aminoglycoside antibiotics","volume":"1","author":"Davies","year":"1965","journal-title":"Mol. Pharmacol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1038\/277148a0","article-title":"Phenotypic suppression of nonsense mutants in yeast by aminoglycoside antibiotics","volume":"277","author":"Palmer","year":"1979","journal-title":"Nature"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1578","DOI":"10.1126\/science.2662404","article-title":"The molecular basis of muscular dystrophy in the mdx mouse: A point mutation","volume":"244","author":"Sicinski","year":"1989","journal-title":"Science"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1172\/JCI7866","article-title":"Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice","volume":"104","author":"Cordier","year":"1999","journal-title":"J. Clin. Invest."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1002\/ana.1023","article-title":"Gentamicin treatment of Duchenne and Becker muscular dystrophy due to nonsense mutations","volume":"49","author":"Wagner","year":"2001","journal-title":"Ann. Neurol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1002\/ana.22024","article-title":"Gentamicin-induced readthrough of stop codons in Duchenne muscular dystrophy","volume":"67","author":"Malik","year":"2010","journal-title":"Ann. Neurol."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Finkel, R.S., Flanigan, K.M., Wong, B., B\u00f6nnemann, C., Sampson, J., Sweeney, H.L., Reha, A., Northcutt, V.J., Elfring, G., and Barth, J. (2013). Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0081302"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1002\/mus.24332","article-title":"Ataluren treatment of patients with nonsense mutation dystrophinopathy","volume":"50","author":"Bushby","year":"2014","journal-title":"Muscle Nerve"},{"key":"ref_18","unstructured":"(2018, November 11). Available online: http:\/\/ir.ptcbio.com\/news-releases\/news-release-details\/ptc-therapeutics-announces-initial-data-patient-registry."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"706","DOI":"10.1038\/nbt0814-706","article-title":"EMA reconsiders 'read-through' drug against Duchenne muscular dystrophy following appeal","volume":"32","author":"Mullard","year":"2014","journal-title":"Nat. Biotechnol."},{"key":"ref_20","unstructured":"(2018, November 11). Available online: https:\/\/www.ema.europa.eu\/en\/medicines\/human\/EPAR\/translarna."},{"key":"ref_21","unstructured":"(2018, November 11). Available online: http:\/\/www. Retrieved from ptcbio.com\/en\/pipeline\/clinical-trials-ataluren\/."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/humu.20918","article-title":"Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations","volume":"30","author":"Fokkema","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"546","DOI":"10.1016\/S0140-6736(11)61028-3","article-title":"Exon-skipping therapy for Duchenne muscular dystrophy","volume":"378","author":"Nakamura","year":"2011","journal-title":"Lancet"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1186\/s13023-018-0834-2","article-title":"Exon skipping for Duchenne muscular dystrophy: A systematic review and meta-analysis","volume":"13","author":"Murakami","year":"2018","journal-title":"Orphanet. J. Rare Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"637","DOI":"10.1002\/ana.23982","article-title":"Eteplirsen for the treatment of Duchenne muscular dystrophy","volume":"74","author":"Mendell","year":"2013","journal-title":"Ann. Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"2357","DOI":"10.1001\/jama.2016.16437","article-title":"Approving a problematic muscular dystrophy drug: Implications for FDA Policy","volume":"316","author":"Kesselheim","year":"2016","journal-title":"JAMA"},{"key":"ref_27","unstructured":"(2018, November 11). Available online: https:\/\/www.fda.gov\/NewsEvents\/Newsroom\/PressAnnouncements\/ucm521263.htm."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1002\/ana.24555","article-title":"Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy","volume":"79","author":"Mendell","year":"2016","journal-title":"Ann. Neurol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"S22.001","DOI":"10.1212\/WNL.90.15_supplement.S22.001","article-title":"Golodirsen induces exon skipping leading to sarcolemmal dystrophin expression in Duchenne muscular dystrophy patients With mutations amenable to Exon 53 skipping","volume":"90","author":"Muntoni","year":"2018","journal-title":"Neurology"},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Komaki, H., Nagata, T., Saito, T., Masuda, S., Takeshita, E., Sasaki, M., Tachimori, H., Nakamura, H., Aoki, Y., and Takeda, S. (2018). Systemic administration of the antisense oligonucleotide NS-065\/NCNP-01 for skipping of exon 53 in patients with Duchenne muscular dystrophy. Sci. Transl. Med., 10.","DOI":"10.1126\/scitranslmed.aan0713"},{"key":"ref_31","unstructured":"(2018, November 11). Available online: https:\/\/www.sarepta.com\/pipeline\/exon-skipping-duchenne."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"2296","DOI":"10.1016\/j.bbamem.2010.02.012","article-title":"Morpholinos and their peptide conjugates: Therapeutic promise and challenge for Duchenne muscular dystrophy","volume":"1798","author":"Moulton","year":"2010","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"5182","DOI":"10.1093\/nar\/gkm478","article-title":"Cell-penetrating peptides as transporters for morpholino oligomers: Effects of amino acid composition on intracellular delivery and cytotoxicity","volume":"35","author":"Wu","year":"2007","journal-title":"Nucleic Acids Res."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1325","DOI":"10.1021\/bc070060v","article-title":"Pharmacokinetics, biodistribution, stability and toxicity of a cell-penetrating peptide-morpholino oligomer conjugate","volume":"18","author":"Amantana","year":"2007","journal-title":"Bioconjug. Chem."},{"key":"ref_35","unstructured":"(2018, November 11). Available online: https:\/\/ir.wavelifesciences.com\/static-files\/6285cdfd-2559-474b-9997-8b20eccbcad4."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1038\/nbt.3948","article-title":"Control of phosphorothioate stereochemistry substantially increases the efficacy of antisense oligonucleotides","volume":"35","author":"Iwamoto","year":"2017","journal-title":"Nat. Biotechnol."},{"key":"ref_37","unstructured":"(2018, November 11). Available online: https:\/\/www.daiichisankyo.com\/media_investors\/media_relations\/press_releases\/detail\/006840.html."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/343180a0","article-title":"Very mild muscular dystrophy associated with the deletion of 46% of dystrophin","volume":"343","author":"England","year":"1990","journal-title":"Nature"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"4263","DOI":"10.1111\/febs.12178","article-title":"Repair or replace? Exploiting novel gene and cell therapy strategies for muscular dystrophies","volume":"280","author":"Benedetti","year":"2013","journal-title":"FEBS J."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"2355","DOI":"10.1093\/hmg\/11.20.2355","article-title":"Gene therapy of muscular dystrophy","volume":"11","author":"Chamberlain","year":"2002","journal-title":"Hum. Mol. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1038\/ng1294-333","article-title":"Dp71 can restore the dystrophin-associated glycoprotein complex in muscle but fails to prevent dystrophy","volume":"8","author":"Cox","year":"1994","journal-title":"Nat. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1083\/jcb.134.1.93","article-title":"Forced expression of dystrophin deletion constructs reveals structure-function correlations","volume":"134","author":"Rafael","year":"1996","journal-title":"J. Cell Biol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"13714","DOI":"10.1073\/pnas.240335297","article-title":"Adeno-associated virus vector carrying human minidystrophin genes effectively ameliorates muscular dystrophy in mdx mouse model","volume":"97","author":"Wang","year":"2000","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1016\/j.ymthe.2018.07.011","article-title":"Systemic AAV micro-dystrophin gene therapy for Duchenne muscular dystrophy","volume":"26","author":"Duan","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1038\/nm0302-253","article-title":"Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy","volume":"8","author":"Harper","year":"2002","journal-title":"Nat. Med."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1038\/nbt1073","article-title":"Adeno-associated virus serotype 8 efficiently delivers genes to muscle and heart","volume":"23","author":"Wang","year":"2005","journal-title":"Nat. Biotechnol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1038\/nm1439","article-title":"rAAV6-microdystrophin preserves muscle function and extends lifespan in severely dystrophic mice","volume":"12","author":"Gregorevic","year":"2006","journal-title":"Nat. Med."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"5880","DOI":"10.1093\/hmg\/ddv310","article-title":"Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virus","volume":"24","author":"Yue","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1056\/NEJMoa1000228","article-title":"Dystrophin immunity in Duchenne's muscular dystrophy","volume":"363","author":"Mendell","year":"2010","journal-title":"N. Engl. J. Med."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1038\/mt.2011.237","article-title":"Phase 1 gene therapy for Duchenne muscular dystrophy using a translational optimized AAV vector","volume":"20","author":"Bowles","year":"2012","journal-title":"Mol. Ther."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"E9182","DOI":"10.1073\/pnas.1808648115","article-title":"Engineered DNA plasmid reduces immunity to dystrophin while improving muscle force in a model of gene therapy of Duchenne dystrophy","volume":"115","author":"Ho","year":"2018","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"803","DOI":"10.1016\/j.nmd.2018.06.009","article-title":"Personalized gene and cell therapy for Duchenne muscular dystrophy","volume":"28","author":"Wein","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1056\/NEJM199509283331303","article-title":"Myoblast transfer in the treatment of Duchenne's muscular dystrophy","volume":"333","author":"Mendell","year":"1995","journal-title":"N. Engl. J. Med."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1097\/01.jnen.0000218443.45782.81","article-title":"Dystrophin expression in muscles of duchenne muscular dystrophy patients after high-density injections of normal myogenic cells","volume":"65","author":"Skuk","year":"2006","journal-title":"J. Neuropathol. Exp. Neurol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1016\/j.ymthe.2003.11.023","article-title":"Dystrophin expression in myofibers of Duchenne muscular dystrophy patients following intramuscular injections of normal myogenic cells","volume":"9","author":"Skuk","year":"2004","journal-title":"Mol. Ther."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"563","DOI":"10.3727\/000000007783465064","article-title":"Autologous transplantation of muscle-derived CD133+ stem cells in Duchenne muscle patients","volume":"16","author":"Torrente","year":"2007","journal-title":"Cell Transplant."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1172\/JCI20325","article-title":"Human circulating AC133(+) stem cells restore dystrophin expression and ameliorate function in dystrophic skeletal muscle","volume":"114","author":"Torrente","year":"2004","journal-title":"J. Clin. Invest."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"2773","DOI":"10.1242\/dev.129.11.2773","article-title":"The meso-angioblast: A multipotent, self-renewing cell that originates from the dorsal aorta and differentiates into most mesodermal tissues","volume":"129","author":"Minasi","year":"2002","journal-title":"Development"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1038\/nature05282","article-title":"Mesoangioblast stem cells ameliorate muscle function in dystrophic dogs","volume":"444","author":"Sampaolesi","year":"2006","journal-title":"Nature"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.15252\/emmm.201505636","article-title":"Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy","volume":"7","author":"Cossu","year":"2015","journal-title":"EMBO Mol. Med."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1038\/ncb1542","article-title":"Pericytes of human skeletal muscle are myogenic precursors distinct from satellite cells","volume":"9","author":"Dellavalle","year":"2007","journal-title":"Nat. Cell Biol."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.3892\/ijmm.2015.2084","article-title":"Transplantation of human umbilical cord-derived mesenchymal stems cells for the treatment of Becker muscular dystrophy in affected pedigree members","volume":"35","author":"Li","year":"2015","journal-title":"Int. J. Mol. Med."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1016\/j.stem.2012.02.015","article-title":"Human ES- and iPS-derived myogenic progenitors restore dystrophin and improve contractility upon transplantation in dystrophic mice","volume":"10","author":"Darabi","year":"2012","journal-title":"Cell Stem Cell"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1016\/j.stem.2016.01.021","article-title":"A single CRISPR-Cas9 deletion strategy that targets the majority of DMD patients restores dystrophin function in hiPSC-derived muscle cells","volume":"18","author":"Young","year":"2016","journal-title":"Cell Stem Cell"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1016\/j.stem.2007.09.016","article-title":"Restoration of human dystrophin following transplantation of exon-skipping-engineered DMD patient stem cells into dystrophic mice","volume":"1","author":"Benchaouir","year":"2007","journal-title":"Cell Stem Cell"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"19750","DOI":"10.1038\/srep19750","article-title":"Autologous skeletal muscle derived cells expressing a novel functional dystrophin provide a potential therapy for Duchenne Muscular Dystrophy","volume":"6","author":"Meng","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"96ra78","DOI":"10.1126\/scitranslmed.3002342","article-title":"Stem cell-mediated transfer of a human artificial chromosome ameliorates muscular dystrophy","volume":"3","author":"Tedesco","year":"2011","journal-title":"Sci. Transl. Med."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1083\/jcb.9.2.493","article-title":"Satellite cell of skeletal muscle fibers","volume":"9","author":"Mauro","year":"1961","journal-title":"J. Biophys. Biochem. Cytol."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1172\/JCI40373","article-title":"Repairing skeletal muscle: Regenerative potential of skeletal muscle stem cells","volume":"120","author":"Tedesco","year":"2010","journal-title":"J. Clin. Invest."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"469","DOI":"10.3390\/medicina47090068","article-title":"Skeletal muscle-derived stem cells: Implications for cell-mediated therapies","volume":"47","author":"Usas","year":"2011","journal-title":"Medicina"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/mt.2014.26","article-title":"Human skeletal muscle-derived CD133(+) cells form functional satellite cells after intramuscular transplantation in immunodeficient host mice","volume":"22","author":"Meng","year":"2014","journal-title":"Mol. Ther."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"2226","DOI":"10.1161\/01.CIR.0000144457.55518.E5","article-title":"Chondrogenic and adipogenic potential of microvascular pericytes","volume":"110","author":"Crofts","year":"2004","journal-title":"Circulation"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/j.stemcr.2014.10.013","article-title":"Precise correction of the dystrophin gene in duchenne muscular dystrophy patient induced pluripotent stem cells by TALEN and CRISPR-Cas9","volume":"4","author":"Li","year":"2015","journal-title":"Stem Cell Rep"},{"key":"ref_74","unstructured":"(2018, November 11). Available online: http:\/\/www.ema.europa.eu\/docs\/en_GB\/document_library\/Scientific_guideline\/2015\/12\/WC500199239.pdf."},{"key":"ref_75","unstructured":"(2018, November 11). Available online: https:\/\/www.fda.gov\/downloads\/Drugs\/GuidanceComplianceRegulatoryInformation\/Guidances\/UCM450229.pdf."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"g6802","DOI":"10.1136\/bmj.g6802","article-title":"Innovative research methods for studying treatments for rare diseases: Methodological review","volume":"349","author":"Gagne","year":"2014","journal-title":"BMJ"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"4364","DOI":"10.1021\/acs.nanolett.5b00490","article-title":"Self-assembly into nanoparticles is essential for receptor mediated uptake of therapeutic antisense oligonucleotides","volume":"15","author":"Ezzat","year":"2015","journal-title":"Nano Lett."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"533","DOI":"10.2147\/DDDT.S97635","article-title":"Eteplirsen in the treatment of Duchenne muscular dystrophy","volume":"11","author":"Lim","year":"2017","journal-title":"Drug Des. Dev. Ther."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1154","DOI":"10.1002\/mus.880190902","article-title":"Duchenne phenotype with in-frame deletion removing major portion of dystrophin rod: Threshold effect for deletion size?","volume":"19","author":"Fanin","year":"1996","journal-title":"Muscle Nerve"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"254","DOI":"10.15252\/emmm.201607284","article-title":"Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next-generation human artificial chromosomes for Duchenne muscular dystrophy","volume":"10","author":"Benedetti","year":"2018","journal-title":"EMBO Mol. Med."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"44775","DOI":"10.1038\/srep44775","article-title":"Lentiviral vectors can be used for full-length dystrophin gene therapy","volume":"7","author":"Counsell","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"8085","DOI":"10.1038\/s41598-017-08312-3","article-title":"Delivery of large transgene cassettes by foamy virus vector","volume":"7","author":"Sweeney","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"16105","DOI":"10.1038\/ncomms16105","article-title":"Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy","volume":"8","author":"Servais","year":"2017","journal-title":"Nat. Commun."}],"container-title":["Journal of Personalized Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4426\/9\/1\/1\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T12:24:02Z","timestamp":1760185442000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4426\/9\/1\/1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,1,7]]},"references-count":83,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2019,3]]}},"alternative-id":["jpm9010001"],"URL":"https:\/\/doi.org\/10.3390\/jpm9010001","relation":{},"ISSN":["2075-4426"],"issn-type":[{"value":"2075-4426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,1,7]]}}}