{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T09:10:59Z","timestamp":1790759459557,"version":"4.1.0"},"reference-count":72,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T00:00:00Z","timestamp":1708905600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["1R01AR071170"],"award-info":[{"award-number":["1R01AR071170"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["1R56HL162953"],"award-info":[{"award-number":["1R56HL162953"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Heart Lung and Blood Institute","doi-asserted-by":"publisher","award":["1R01AR071170"],"award-info":[{"award-number":["1R01AR071170"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Heart Lung and Blood Institute","doi-asserted-by":"publisher","award":["1R56HL162953"],"award-info":[{"award-number":["1R56HL162953"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Loss of function of members of the muscleblind-like (MBNL) family of RNA binding proteins has been shown to play a key role in the spliceopathy of RNA toxicity in myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and children. MBNL1 and MBNL2 are the most abundantly expressed members in skeletal muscle. A key aspect of DM1 is poor muscle regeneration and repair, leading to dystrophy. We used a BaCl2-induced damage model of muscle injury to study regeneration and effects on skeletal muscle satellite cells (MuSCs) in Mbnl1\u2206E3\/\u2206E3 and Mbnl2\u2206E2\/\u2206E2 knockout mice. Similar experiments have previously shown deleterious effects on these parameters in mouse models of RNA toxicity. Muscle regeneration in Mbnl1 and Mbnl2 knockout mice progressed normally with no obvious deleterious effects on MuSC numbers or increased expression of markers of fibrosis. Skeletal muscles in Mbnl1\u2206E3\/\u2206E3\/ Mbnl2\u2206E2\/+ mice showed increased histopathology but no deleterious reductions in MuSC numbers and only a slight increase in collagen deposition. These results suggest that factors beyond the loss of MBNL1\/MBNL2 and the associated spliceopathy are likely to play a key role in the defects in skeletal muscle regeneration and deleterious effects on MuSCs that are seen in mouse models of RNA toxicity due to expanded CUG repeats.<\/jats:p>","DOI":"10.3390\/ijms25052687","type":"journal-article","created":{"date-parts":[[2024,2,26]],"date-time":"2024-02-26T07:51:39Z","timestamp":1708933899000},"page":"2687","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Studying the Effect of MBNL1 and MBNL2 Loss in Skeletal Muscle Regeneration"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0092-5033","authenticated-orcid":false,"given":"Ramesh S.","family":"Yadava","sequence":"first","affiliation":[{"name":"Department of Pathology, University of Virginia, Charlottesville, VA 22908, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahua","family":"Mandal","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Virginia, Charlottesville, VA 22908, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mani S.","family":"Mahadevan","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Virginia, Charlottesville, VA 22908, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,26]]},"reference":[{"key":"ref_1","first-page":"385","article-title":"Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3\u2019 end of a transcript encoding a protein kinase family member","volume":"69","author":"Brook","year":"1992","journal-title":"Cell"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1126\/science.1546325","article-title":"Myotonic dystrophy mutation: An unstable CTG repeat in the 3\u2019 untranslated region of the gene","volume":"255","author":"Mahadevan","year":"1992","journal-title":"Science"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"995","DOI":"10.1083\/jcb.128.6.995","article-title":"Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues","volume":"128","author":"Taneja","year":"1995","journal-title":"J. Cell Biol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"7388","DOI":"10.1073\/pnas.94.14.7388","article-title":"Expansion of a CUG trinucleotide repeat in the 3\u2019 untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts","volume":"94","author":"Davis","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_5","unstructured":"Mahadevan, M.S.A.J.D., and Paguio, A.P. (1998, January 27\u201331). A cell culture model of the myotonic dystrophy (DM) mutation. Proceedings of the Annual Meeting of the American Society of Human Genetics, Denver, CO, USA."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1975","DOI":"10.1093\/hmg\/8.11.1975","article-title":"Cis and trans effects of the myotonic dystrophy (DM) mutation in a cell culture model","volume":"8","author":"Amack","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"1066","DOI":"10.1038\/ng1857","article-title":"Reversible model of RNA toxicity and cardiac conduction defects in myotonic dystrophy","volume":"38","author":"Mahadevan","year":"2006","journal-title":"Nat. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1769","DOI":"10.1126\/science.289.5485.1769","article-title":"Myotonic dystrophy in transgenic mice expressing an expanded CUG repeat","volume":"289","author":"Mankodi","year":"2000","journal-title":"Science"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1038\/nature11362","article-title":"Targeting nuclear RNA for in vivo correction of myotonic dystrophy","volume":"488","author":"Wheeler","year":"2012","journal-title":"Nature"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"100","DOI":"10.1016\/j.brainres.2012.02.030","article-title":"RNA-binding proteins in microsatellite expansion disorders: Mediators of RNA toxicity","volume":"1462","author":"Echeverria","year":"2012","journal-title":"Brain Res."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"519","DOI":"10.3389\/fneur.2018.00519","article-title":"Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy","volume":"9","author":"Braz","year":"2018","journal-title":"Front. Neurol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1093\/hmg\/ddu443","article-title":"NKX2-5, a modifier of skeletal muscle pathology due to RNA toxicity","volume":"24","author":"Gladman","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"4461","DOI":"10.1172\/JCI64081","article-title":"GSK3beta mediates muscle pathology in myotonic dystrophy","volume":"122","author":"Jones","year":"2012","journal-title":"J. Clin. Investig."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.molcel.2007.07.027","article-title":"Increased steady-state levels of CUGBP1 in myotonic dystrophy 1 are due to PKC-mediated hyperphosphorylation","volume":"28","author":"Wang","year":"2007","journal-title":"Mol. Cell"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2789","DOI":"10.1093\/hmg\/ddy192","article-title":"Mechanisms of skeletal muscle wasting in a mouse model for myotonic dystrophy type 1","volume":"27","author":"Morriss","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Yadava, R.S., Foff, E.P., Yu, Q., Gladman, J.T., Zheng, T.S., and Mahadevan, M.S. (2016). TWEAK Regulates Muscle Functions in a Mouse Model of RNA Toxicity. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0150192"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1038\/ng.2007.28","article-title":"RNA toxicity in myotonic muscular dystrophy induces NKX2-5 expression","volume":"40","author":"Yadava","year":"2008","journal-title":"Nat. Genet."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1435","DOI":"10.2353\/ajpath.2009.080560","article-title":"Large CTG repeats trigger p16-dependent premature senescence in myotonic dystrophy type 1 muscle precursor cells","volume":"174","author":"Bigot","year":"2009","journal-title":"Am. J. Pathol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"e173576","DOI":"10.1172\/JCI173576","article-title":"Verapamil mitigates chloride and calcium bi-channelopathy in a myotonic dystrophy mouse model","volume":"134","author":"Cisco","year":"2024","journal-title":"J. Clin. Investig."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"4033","DOI":"10.1038\/s41467-023-39663-3","article-title":"Clearance of defective muscle stem cells by senolytics restores myogenesis in myotonic dystrophy type 1","volume":"14","author":"Conte","year":"2023","journal-title":"Nat. Commun."},{"key":"ref_21","doi-asserted-by":"crossref","unstructured":"Czubak, K., Sedehizadeh, S., Kozlowski, P., and Wojciechowska, M. (2019). An Overview of Circular RNAs and Their Implications in Myotonic Dystrophy. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20184385"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"649","DOI":"10.3389\/fgene.2019.00649","article-title":"Global Increase in Circular RNA Levels in Myotonic Dystrophy","volume":"10","author":"Czubak","year":"2019","journal-title":"Front. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.3233\/JND-230099","article-title":"Resistance Exercise Training Rescues Mitochondrial Dysfunction in Skeletal Muscle of Patients with Myotonic Dystrophy Type 1","volume":"10","author":"Lawless","year":"2023","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Hasuike, Y., Mochizuki, H., and Nakamori, M. (2022). Cellular Senescence and Aging in Myotonic Dystrophy. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23042339"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"5472","DOI":"10.1073\/pnas.1907297117","article-title":"HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy","volume":"117","author":"Li","year":"2020","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"e156125","DOI":"10.1172\/JCI156125","article-title":"Aerobic exercise elicits clinical adaptations in myotonic dystrophy type 1 patients independently of pathophysiological changes","volume":"132","author":"Mikhail","year":"2022","journal-title":"J. Clin. Investig."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"3249","DOI":"10.1113\/JP282725","article-title":"Pharmacological and exercise-induced activation of AMPK as emerging therapies for myotonic dystrophy type 1 patients","volume":"600","author":"Duchesne","year":"2022","journal-title":"J. Physiol."},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Sabater-Arcis, M., Moreno, N., Sevilla, T., Perez Alonso, M., Bargiela, A., and Artero, R. (2023). Msi2 enhances muscle dysfunction in a myotonic dystrophy type 1 mouse model. Biomed. J.","DOI":"10.1016\/j.bj.2023.100667"},{"key":"ref_29","doi-asserted-by":"crossref","unstructured":"Voellenkle, C., Perfetti, A., Carrara, M., Fuschi, P., Renna, L.V., Longo, M., Sain, S.B., Cardani, R., Valaperta, R., and Silvestri, G. (2019). Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20081938"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"2073","DOI":"10.1096\/fj.201700700R","article-title":"Correction of GSK3beta at young age prevents muscle pathology in mice with myotonic dystrophy type 1","volume":"32","author":"Wei","year":"2018","journal-title":"FASEB J."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1186\/1479-5876-8-48","article-title":"Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients","volume":"8","author":"Gambardella","year":"2010","journal-title":"J. Transl. Med."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1016\/j.nmd.2010.11.012","article-title":"Dysregulation and cellular mislocalization of specific miRNAs in myotonic dystrophy type 1","volume":"21","author":"Perbellini","year":"2011","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"38174","DOI":"10.1038\/srep38174","article-title":"Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1","volume":"6","author":"Perfetti","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"36230","DOI":"10.1038\/srep36230","article-title":"Derepressing muscleblind expression by miRNA sponges ameliorates myotonic dystrophy-like phenotypes in Drosophila","volume":"6","author":"Llamusi","year":"2016","journal-title":"Sci. Rep."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"4439","DOI":"10.1093\/emboj\/19.17.4439","article-title":"Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy","volume":"19","author":"Miller","year":"2000","journal-title":"EMBO J."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1978","DOI":"10.1126\/science.1088583","article-title":"A muscleblind knockout model for myotonic dystrophy","volume":"302","author":"Kanadia","year":"2003","journal-title":"Science"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.1002\/emmm.201303275","article-title":"Compound loss of muscleblind-like function in myotonic dystrophy","volume":"5","author":"Lee","year":"2013","journal-title":"EMBO Mol. Med."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1101\/gad.300590.117","article-title":"Disrupted prenatal RNA processing and myogenesis in congenital myotonic dystrophy","volume":"31","author":"Thomas","year":"2017","journal-title":"Genes. Dev."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1111\/j.0954-6820.1988.tb19594.x","article-title":"Muscle function and morphology in myotonic dystrophy","volume":"224","author":"Grimby","year":"1988","journal-title":"Acta Medica Scand."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"368","DOI":"10.3389\/fneur.2018.00368","article-title":"Abnormalities in Skeletal Muscle Myogenesis, Growth, and Regeneration in Myotonic Dystrophy","volume":"9","author":"Andre","year":"2018","journal-title":"Front. Neurol."},{"key":"ref_41","first-page":"125","article-title":"Muscle wasting in myotonic dystrophies: A model of premature aging","volume":"7","author":"Goicoechea","year":"2015","journal-title":"Front. Aging Neurosci."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"2280","DOI":"10.1016\/j.biocel.2013.06.010","article-title":"Molecular mechanisms of muscle atrophy in myotonic dystrophies","volume":"45","author":"Timchenko","year":"2013","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1038\/nm.3918","article-title":"The central role of muscle stem cells in regenerative failure with aging","volume":"21","author":"Blau","year":"2015","journal-title":"Nat. Med."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1111","DOI":"10.1093\/hmg\/ddab108","article-title":"Modeling muscle regeneration in RNA toxicity mice","volume":"30","author":"Yadava","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"1440","DOI":"10.1093\/hmg\/ddaa060","article-title":"Systemic therapy in an RNA toxicity mouse model with an antisense oligonucleotide therapy targeting a non-CUG sequence within the DMPK 3\u2019UTR RNA","volume":"29","author":"Yadava","year":"2020","journal-title":"Hum. Mol. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"3547","DOI":"10.1093\/hmg\/ddt209","article-title":"Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice","volume":"22","author":"Poulos","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1016\/j.neuron.2012.05.029","article-title":"Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy","volume":"75","author":"Charizanis","year":"2012","journal-title":"Neuron"},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Hardy, D., Besnard, A., Latil, M., Jouvion, G., Briand, D., Thepenier, C., Pascal, Q., Guguin, A., Gayraud-Morel, B., and Cavaillon, J.M. (2016). Comparative Study of Injury Models for Studying Muscle Regeneration in Mice. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0147198"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1062","DOI":"10.1038\/embor.2013.182","article-title":"Cellular dynamics in the muscle satellite cell niche","volume":"14","author":"Bentzinger","year":"2013","journal-title":"EMBO Rep."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1152\/physrev.00019.2003","article-title":"Cellular and molecular regulation of muscle regeneration","volume":"84","author":"Charge","year":"2004","journal-title":"Physiol. Rev."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"2895","DOI":"10.1242\/jcs.112.17.2895","article-title":"In vivo satellite cell activation via Myf5 and MyoD in regenerating mouse skeletal muscle","volume":"112","author":"Cooper","year":"1999","journal-title":"J. Cell Sci."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1038\/nrm3265","article-title":"Satellite cells, the engines of muscle repair","volume":"13","author":"Wang","year":"2011","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1152\/physrev.00043.2011","article-title":"Satellite cells and the muscle stem cell niche","volume":"93","author":"Yin","year":"2013","journal-title":"Physiol. Rev."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"4645","DOI":"10.1093\/hmg\/dds306","article-title":"Mouse model of muscleblind-like 1 overexpression: Skeletal muscle effects and therapeutic promise","volume":"21","author":"Chamberlain","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"2330","DOI":"10.1093\/hmg\/ddz065","article-title":"MBNL1 overexpression is not sufficient to rescue the phenotypes in a mouse model of RNA toxicity","volume":"28","author":"Yadava","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1093\/nar\/gkac1219","article-title":"Alternative splicing mediates the compensatory upregulation of MBNL2 upon MBNL1 loss-of-function","volume":"51","author":"Nitschke","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"1037","DOI":"10.1002\/mus.880170911","article-title":"Muscle histopathology in myotonic dystrophy in relation to age and muscular weakness","volume":"17","author":"Tohgi","year":"1994","journal-title":"Muscle Nerve"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1016\/0022-510X(83)90080-1","article-title":"Skeletal muscle in preterm infants with congenital myotonic dystrophy. Morphologic and histochemical study","volume":"59","author":"Sahgal","year":"1983","journal-title":"J. Neurol. Sci."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"466","DOI":"10.1001\/archneur.1976.00500070008002","article-title":"Maturational arrest of fetal muscle in neonatal myotonic dystrophy. A pathologic study of four cases","volume":"33","author":"Sarnat","year":"1976","journal-title":"Arch. Neurol."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1136\/jcp.31.11.1057","article-title":"Myotonia dystrophica with heart involvement: An electron microscopic study of skeletal, cardiac, and smooth muscle","volume":"31","author":"Ludatscher","year":"1978","journal-title":"J. Clin. Pathol."},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1093\/hmg\/10.19.2079","article-title":"Defective satellite cells in congenital myotonic dystrophy","volume":"10","author":"Furling","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1016\/0022-510X(83)90207-1","article-title":"A quantitative study of the muscle satellite cells in various neuromuscular disorders","volume":"62","author":"Ishimoto","year":"1983","journal-title":"J. Neurol. Sci."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1111\/j.1365-2990.2009.01014.x","article-title":"Satellite cell dysfunction contributes to the progressive muscle atrophy in myotonic dystrophy type 1","volume":"35","author":"Thornell","year":"2009","journal-title":"Neuropathol. Appl. Neurobiol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"10064","DOI":"10.4081\/ejtm.2022.10064","article-title":"Involvement of muscle satellite cell dysfunction in neuromuscular disorders: Expanding the portfolio of satellite cell-opathies","volume":"32","author":"Ganassi","year":"2022","journal-title":"Eur. J. Transl. Myol."},{"key":"ref_65","doi-asserted-by":"crossref","unstructured":"Andre, L.M., van Cruchten, R.T.P., Willemse, M., Bezstarosti, K., Demmers, J.A.A., van Agtmaal, E.L., Wansink, D.G., and Wieringa, B. (2019). Recovery in the Myogenic Program of Congenital Myotonic Dystrophy Myoblasts after Excision of the Expanded (CTG)n Repeat. Int. J. Mol. Sci., 20.","DOI":"10.3390\/ijms20225685"},{"key":"ref_66","doi-asserted-by":"crossref","unstructured":"Franck, S., Couvreu De Deckersberg, E., Bubenik, J.L., Markouli, C., Barbe, L., Allemeersch, J., Hilven, P., Duque, G., Swanson, M.S., and Gheldof, A. (2022). Myotonic dystrophy type 1 embryonic stem cells show decreased myogenic potential, increased CpG methylation at the DMPK locus and RNA mis-splicing. Biol. Open, 11.","DOI":"10.1242\/bio.058978"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"e00155-19","DOI":"10.1128\/MCB.00155-19","article-title":"Correction of Glycogen Synthase Kinase 3beta in Myotonic Dystrophy 1 Reduces the Mutant RNA and Improves Postnatal Survival of DMSXL Mice","volume":"39","author":"Wang","year":"2019","journal-title":"Mol. Cell Biol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"11748","DOI":"10.1073\/pnas.0604970103","article-title":"Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy","volume":"103","author":"Kanadia","year":"2006","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"862","DOI":"10.1002\/ana.23992","article-title":"Splicing biomarkers of disease severity in myotonic dystrophy","volume":"74","author":"Nakamori","year":"2013","journal-title":"Ann. Neurol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"335","DOI":"10.1016\/j.nmd.2009.03.002","article-title":"Ribonuclear inclusions and MBNL1 nuclear sequestration do not affect myoblast differentiation but alter gene splicing in myotonic dystrophy type 2","volume":"19","author":"Cardani","year":"2009","journal-title":"Neuromuscul. Disord. NMD"},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1016\/j.nbd.2009.07.009","article-title":"Absence of a differentiation defect in muscle satellite cells from DM2 patients","volume":"36","author":"Pelletier","year":"2009","journal-title":"Neurobiol. Dis."},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"670","DOI":"10.1016\/S1525-0016(03)00068-6","article-title":"Hammerhead ribozyme-mediated destruction of nuclear foci in myotonic dystrophy myoblasts","volume":"7","author":"Langlois","year":"2003","journal-title":"Mol. Ther. J. Am. Soc. Gene Ther."}],"container-title":["International Journal of Molecular Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/5\/2687\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:04:56Z","timestamp":1760105096000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1422-0067\/25\/5\/2687"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2,26]]},"references-count":72,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,3]]}},"alternative-id":["ijms25052687"],"URL":"https:\/\/doi.org\/10.3390\/ijms25052687","relation":{},"ISSN":["1422-0067"],"issn-type":[{"value":"1422-0067","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,2,26]]}}}