{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:20:17Z","timestamp":1791872417048,"version":"4.3.4"},"reference-count":253,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T00:00:00Z","timestamp":1697500800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>Muscular dystrophies are a heterogeneous group of genetic muscle-wasting disorders that are subdivided based on the region of the body impacted by muscle weakness as well as the functional activity of the underlying genetic mutations. A common feature of the pathophysiology of muscular dystrophies is chronic inflammation associated with the replacement of muscle mass with fibrotic scarring. With the progression of these disorders, many patients suffer cardiomyopathies with fibrosis of the cardiac tissue. Anti-inflammatory glucocorticoids represent the standard of care for Duchenne muscular dystrophy, the most common muscular dystrophy worldwide; however, long-term exposure to glucocorticoids results in highly adverse side effects, limiting their use. Thus, it is important to develop new pharmacotherapeutic approaches to limit inflammation and fibrosis to reduce muscle damage and promote repair. Here, we examine the pathophysiology, genetic background, and emerging therapeutic strategies for muscular dystrophies.<\/jats:p>","DOI":"10.3390\/biom13101536","type":"journal-article","created":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T10:43:10Z","timestamp":1697539390000},"page":"1536","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Pharmacotherapeutic Approaches to Treatment of Muscular Dystrophies"],"prefix":"10.3390","volume":"13","author":[{"given":"Alan","family":"Rawls","sequence":"first","affiliation":[{"name":"School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bridget K.","family":"Diviak","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA"},{"name":"Molecular and Cellular Biology Graduate Program, School of Life Sciences, Tempe, AZ 85287 4501, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-2030-2739","authenticated-orcid":false,"given":"Cameron I.","family":"Smith","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA"},{"name":"Molecular and Cellular Biology Graduate Program, School of Life Sciences, Tempe, AZ 85287 4501, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grant W.","family":"Severson","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA"},{"name":"Molecular and Cellular Biology Graduate Program, School of Life Sciences, Tempe, AZ 85287 4501, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia A.","family":"Acosta","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA"},{"name":"Molecular and Cellular Biology Graduate Program, School of Life Sciences, Tempe, AZ 85287 4501, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3704-6956","authenticated-orcid":false,"given":"Jeanne","family":"Wilson-Rawls","sequence":"additional","affiliation":[{"name":"School of Life Sciences, Arizona State University, Tempe, AZ 85287-4501, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,17]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1016\/j.nmd.2022.12.002","article-title":"The 2023 version of the gene table of neuromuscular disorders","volume":"33","author":"Benarroch","year":"2023","journal-title":"Neuromuscul. Disord."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1449","DOI":"10.1002\/humu.22390","article-title":"The TREAT-NMD DMD Global Database: Analysis of More than 7000 Duchenne Muscular Dystrophy Mutations","volume":"34","author":"Bladen","year":"2013","journal-title":"Hum. Mut."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1093\/nar\/17.2.811","article-title":"Rapid carrier and prenatal diagnosis of Duchenne and Becker muscular dystrophy","volume":"17","author":"Roberts","year":"1989","journal-title":"Nucleic Acids Res."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.nmd.2014.03.008","article-title":"A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy","volume":"24","author":"Mah","year":"2014","journal-title":"Neuromuscul. Disord."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"759","DOI":"10.1111\/jpc.12868","article-title":"Duchenne muscular dystrophy","volume":"51","author":"Yiu","year":"2015","journal-title":"J. Paediatr. Child Health"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1016\/0960-8966(91)90001-9","article-title":"Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy","volume":"1","author":"Jennekens","year":"1991","journal-title":"Neuromuscul. Disord."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1016\/j.yjmcc.2012.12.009","article-title":"Cardiac phenotype of Duchenne Muscular Dystrophy: Insights from cellular studies","volume":"58","author":"Shirikova","year":"2013","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_8","first-page":"184","article-title":"The role of fibrosis in Duchenne muscular dystrophy","volume":"31","author":"Klingler","year":"2012","journal-title":"Acta Myol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/1471-2377-10-33","article-title":"Myocardial inflammation in Duchenne Muscular Dystrophy as a precipitating factor for heart failure: A prospective study","volume":"10","author":"Mavrogeni","year":"2010","journal-title":"BMC Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/mus.20586","article-title":"Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule","volume":"34","author":"Fokkema","year":"2006","journal-title":"Muscle Nerve"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/0092-8674(87)90504-6","article-title":"Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals","volume":"50","author":"Koenig","year":"1987","journal-title":"Cell"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"12575","DOI":"10.1038\/s41598-017-12981-5","article-title":"Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy","volume":"7","author":"Doorenweerd","year":"2017","journal-title":"Sci. Rep."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1152\/physrev.00028.2001","article-title":"Function and genetics of dystrophin and dystrophin-related proteins in muscle","volume":"82","author":"Blake","year":"2002","journal-title":"Physiol. Rev."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1002\/cphy.c140048","article-title":"The Dystrophin Complex: Structure, Function, and Implications for Therapy","volume":"5","author":"Gao","year":"2015","journal-title":"Compr. Physiol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/S0074-7696(07)65005-0","article-title":"Biology of the striated muscle dystrophin-glycoprotein complex","volume":"265","author":"Ervasti","year":"2008","journal-title":"Int. Rev. Cytol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1113\/EP085308","article-title":"Advances in genetic therapeutic strategies for Duchenne muscular dystrophy","volume":"100","author":"Guiraud","year":"2015","journal-title":"Exp. Physiol."},{"key":"ref_17","doi-asserted-by":"crossref","unstructured":"Wilson, D.G.S., Tinker, A., and Iskratsch, T. (2022). The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction. Commun. Biol., 5.","DOI":"10.1038\/s42003-022-03980-y"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","article-title":"Duchenne muscular dystrophy","volume":"7","author":"Duan","year":"2021","journal-title":"Nat. Rev. Dis. Primers"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1212\/WNL.0000000000002337","article-title":"Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy. Report of the Guideline Development Subcommittee of the American Academy of Neurology","volume":"86","author":"Gloss","year":"2016","journal-title":"Neurology"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.3892\/etm.2017.4105","article-title":"Expression levels of TGF-\u03b21 and CTGF are associated with the severity of Duchenne muscular dystrophy","volume":"13","author":"Song","year":"2017","journal-title":"Exp. Ther. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1016\/S1474-4422(09)70271-6","article-title":"DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management","volume":"9","author":"Bushby","year":"2010","journal-title":"Lancet Neurol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1186\/s13023-021-01758-9","article-title":"Standard of care versus new-wave corticosteroids in the treatment of Duchenne muscular dystrophy: Can we do better?","volume":"16","author":"Kourakis","year":"2021","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e2144178","DOI":"10.1001\/jamanetworkopen.2021.44178","article-title":"Efficacy and Safety of Vamorolone in Duchenne Muscular Dystrophy: A 30-Month Nonrandomized Controlled Open-Label Extension Trial","volume":"5","author":"Mah","year":"2022","journal-title":"JAMA Netw. Open"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"769","DOI":"10.3233\/JND-210689","article-title":"A Randomized, Double-Blind, Placebo-Controlled, Global Phase 3 Study of Edasalonexent in Pediatric Patients with Duchenne Muscular Dystrophy: Results of the PolarisDMD Trial","volume":"8","author":"Finkel","year":"2021","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2241","DOI":"10.1016\/j.bmc.2013.02.009","article-title":"VBP15: Preclinical characterization of a novel anti-inflammatory delta 9, 11 steroid","volume":"21","author":"Reeves","year":"2013","journal-title":"Bioorg. Med. Chem."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1597","DOI":"10.1001\/jama.1997.03540440031029","article-title":"Administration of methylprednisolone for 24 or 48 hours or tirilazad mesylate for 48 hours in the treatment of acute spinal cord injury. Results of the National Acute Spinal Cord Injury Randomized Controlled Trial. National Acute Spinal Cord Injury Study","volume":"277","author":"Bracken","year":"1997","journal-title":"JAMA"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1002\/jnr.23842","article-title":"Is it time to resurrect \u201clazaroids\u201d?","volume":"95","author":"Cahill","year":"2017","journal-title":"J. Neurosci. Res."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1569","DOI":"10.1002\/emmm.201302621","article-title":"VBP15, a novel anti-inflammatory and membrane-stabilizer, improves muscular dystrophy without side effects","volume":"5","author":"Heier","year":"2013","journal-title":"EMBO Mol. Med."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1124\/jpet.112.194340","article-title":"\u0394-9,11 modification of glucocorticoids dissociates nuclear factor-\u03baB inhibitory efficacy from glucocorticoid response element-associated side effects","volume":"343","author":"Baudy","year":"2012","journal-title":"J. Pharmacol. Exp. Ther."},{"key":"ref_30","doi-asserted-by":"crossref","unstructured":"Smith, E.C., Conklin, L.S., Hoffman, E.P., Clemens, P.R., Mah, J.K., Finkel, R.S., Guglieri, M., Tulinius, M., Nevo, Y., and Ryan, M.M. (2020). Efficacy and safety of vamorolone in Duchenne muscular dystrophy: An 18-month interim analysis of a non-randomized open-label extension study. PLoS Med., 17.","DOI":"10.1371\/journal.pmed.1003222"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1001\/jamaneurol.2022.2480","article-title":"Efficacy and Safety of Vamorolone vs Placebo and Prednisone Among Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial","volume":"79","author":"Guglieri","year":"2022","journal-title":"JAMA Neurol."},{"key":"ref_32","doi-asserted-by":"crossref","unstructured":"Andre, A.B., Zhang, L., Nix, J.D., Elmadbouly, N., Lucas, A.R., Wilson-Rawls, J., and Rawls, A. (2022). Myxomavirus Serp-1 Protein Ameliorates Inflammation in a Mouse Model of Duchenne Muscular Dystrophy. Biomedicines, 10.","DOI":"10.3390\/biomedicines10051154"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"2851","DOI":"10.1113\/jphysiol.2013.251249","article-title":"Molecular determinants for cardiovascular TRPC6 channel regulation by Ca2+\/calmodulin-dependent kinase II","volume":"591","author":"Shi","year":"2013","journal-title":"J. Physiol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"e003911","DOI":"10.1161\/JAHA.116.003911","article-title":"Tadalafil treatment delays the onset of cardiomyopathy in dystrophin-deficient hearts","volume":"5","author":"Hammers","year":"2016","journal-title":"J. Am. Heart Assoc."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"10156","DOI":"10.1073\/pnas.1815354116","article-title":"In vivo selective inhibition of TRPC6 by antagonist BI 749327 ameliorates fibrosis and dysfunction in cardiac and renal disease","volume":"116","author":"Lin","year":"2019","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1038\/nm.1916","article-title":"Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle","volume":"15","author":"Bellinger","year":"2009","journal-title":"Nat. Med."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1002\/mus.20745","article-title":"SERCA pump isoforms: Their role in calcium transport and disease","volume":"35","author":"Periasamy","year":"2007","journal-title":"Muscle Nerve"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1038\/bjp.2008.285","article-title":"Investigation of Debio 025, a cyclophilin inhibitor, in the dystrophic mdx mouse, a model for Duchenne muscular dystrophy","volume":"155","author":"Reutenauer","year":"2008","journal-title":"Br. J. Pharmacol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1016\/j.nmd.2010.06.016","article-title":"Debio-025 is more effective than prednisone in reducing muscular pathology in mdx mice","volume":"20","author":"Wissing","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.phrs.2017.09.001","article-title":"Alisporivir rescues defective mitochondrial respiration in Duchenne muscular dystrophy","volume":"125","author":"Schiavone","year":"2017","journal-title":"Pharmacol. Res."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"2161","DOI":"10.1113\/jphysiol.2011.207456","article-title":"Exacerbation of pathology by oxidative stress in respiratory and locomotor muscles with Duchenne muscular dystrophy: Oxidative stress and DMD pathology","volume":"589","author":"Lawler","year":"2011","journal-title":"J. Physiol."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"396","DOI":"10.1016\/j.nmd.2011.02.016","article-title":"Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: Results from a 12 month, double-blind, randomized placebo-controlled trial","volume":"21","author":"Buyse","year":"2011","journal-title":"Neuromuscul. Disord."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1748","DOI":"10.1016\/S0140-6736(15)60025-3","article-title":"Efficacy of idebenone on respiratory function in patients with Duchenne muscular dystrophy not using glucocorticoids (DELOS): A double-blind randomised placebo-controlled phase 3 trial","volume":"385","author":"Buyse","year":"2015","journal-title":"Lancet"},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Vita, G.L., Sframeli, M., Licata, N., Bitto, A., Romeo, S., Frisone, F., Ciranni, A., Pallio, G., Mannino, F., and Aguennouz, M. (2021). A Phase 1\/2 Study of Flavocoxid, an Oral NF-\u03baB Inhibitor, in Duchenne Muscular Dystrophy. Brain Sci., 11.","DOI":"10.3390\/brainsci11010115"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e2144279","DOI":"10.1001\/jamanetworkopen.2021.44279","article-title":"Effect of Urolithin A Supplementation on Muscle Endurance and Mitochondrial Health in Older Adults: A Randomized Clinical Trial","volume":"5","author":"Liu","year":"2022","journal-title":"JAMA Netw Open"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"100633","DOI":"10.1016\/j.xcrm.2022.100633","article-title":"Urolithin A improves muscle strength, exercise performance, and biomarkers of mitochondrial health in a randomized trial in middle-aged adults","volume":"3","author":"Singh","year":"2022","journal-title":"Cell Rep. Med."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2835","DOI":"10.1182\/blood.V99.8.2835","article-title":"Plasmin Activity Is Required for Myogenesis in Vitro and Skeletal Muscle Regeneration in Vivo","volume":"99","author":"Suelves","year":"2002","journal-title":"Blood"},{"key":"ref_48","doi-asserted-by":"crossref","unstructured":"Suelves, M. (2005). The Plasminogen Activation System in Skeletal Muscle Regeneration: Antagonistic Roles of Urokinase-Type Plasminogen Activator (Upa) and Its Inhibitor (PAI-1). Front. Biosci., 10.","DOI":"10.2741\/1754"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1039","DOI":"10.1083\/jcb.200705127","article-title":"UPA Deficiency Exacerbates Muscular Dystrophy in MDX Mice","volume":"178","author":"Suelves","year":"2007","journal-title":"J. Cell. Biol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1182\/blood.V97.6.1703","article-title":"Urokinase-Dependent Plasminogen Activation Is Required for Efficient Skeletal Muscle Regeneration In Vivo","volume":"97","author":"Roma","year":"2001","journal-title":"Blood"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1083\/jcb.201105013","article-title":"PAI-1\u2013Regulated MiR-21 Defines a Novel Age-Associated Fibrogenic Pathway in Muscular Dystrophy","volume":"196","author":"Ardite","year":"2012","journal-title":"J. Cell Biol."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"eabf0376","DOI":"10.1126\/scitranslmed.abf0376","article-title":"Anti-latent TGF-\u03b2 binding protein 4 antibody improves muscle function and reduces muscle fibrosis in muscular dystrophy","volume":"13","author":"Demonbreun","year":"2021","journal-title":"Sci. Trans. Med."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"e16","DOI":"10.1017\/erm.2014.17","article-title":"Dysregulation of calcium homeostasis in muscular dystrophies","volume":"16","author":"Aldanondo","year":"2014","journal-title":"Expert Rev. Mol. Med."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1038\/cdd.2015.65","article-title":"Genetic evidence in the mouse solidifies the calcium hypothesis of myofiber death in muscular dystrophy","volume":"22","author":"Burr","year":"2015","journal-title":"Cell Death Differ."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"647010","DOI":"10.3389\/fphys.2021.647010","article-title":"Abnormal calcium handling in Duchenne Muscular Dystrophy: Mechanisms and potential therapies","volume":"12","author":"Mareedu","year":"2021","journal-title":"Front. Physiol."},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1038\/nature02246","article-title":"The mitochondrial calcium uniporter is a highly selective ion channel","volume":"427","author":"Kirichok","year":"2004","journal-title":"Nature"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1007\/s10974-013-9350-0","article-title":"Increased sarcolipin expression and decreased sarco(endo)plasmic reticulum Ca2+ uptake in skeletal muscles of mouse models of Duchenne muscular dystrophy","volume":"34","author":"Schneider","year":"2013","journal-title":"J. Muscle Res. Cell Motil."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1068","DOI":"10.1038\/s41467-017-01146-7","article-title":"Reducing sarcolipin expression mitigates Duchenne muscular dystrophy and associated cardiomyopathy in mice","volume":"8","author":"Voit","year":"2017","journal-title":"Nat. Commun."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/j.ymthe.2019.12.011","article-title":"Single SERCA2a therapy ameliorated dilated cardiomyopathy for 18 months in a mouse model of duchenne muscular dystrophy","volume":"28","author":"Wasala","year":"2020","journal-title":"Mol. Ther."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1016\/j.bbamem.2013.08.023","article-title":"Dystrophin complex functions as a scaffold for signalling proteins","volume":"1838","author":"Constantin","year":"2014","journal-title":"Biochim. Biophys. Acta"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1186\/s12967-021-03191-9","article-title":"TRPC3, but not TRPC1, as a good therapeutic target for standalone or complementary treatment of DMD","volume":"19","author":"Gazaille","year":"2021","journal-title":"J. Transl. Med."},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"47842","DOI":"10.1074\/jbc.M302983200","article-title":"N-linked protein glycosylation is a major determinant for basal TRPC3 and TRPC6 channel activity","volume":"278","author":"Dietrich","year":"2003","journal-title":"J. Biol. Chem."},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"19439","DOI":"10.1074\/jbc.M110.210294","article-title":"cAMP activates TRPC6 channels via the phosphatidylinositol 3-kinase (PI3K)-protein kinase B (PKB)-mitogen-activated protein kinase kinase (MEK)-ERK1\/2 signaling pathway","volume":"286","author":"Shen","year":"2011","journal-title":"J. Biol. Chem."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"e158906","DOI":"10.1172\/jci.insight.158906","article-title":"Pharmacological TRPC6 inhibition improves survival and muscle function in mice with Duchenne muscular dystrophy","volume":"7","author":"Lin","year":"2022","journal-title":"JCI Insight"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1025","DOI":"10.1096\/fj.201700182RRR","article-title":"Ryanodine channel complex stabilizer compound S48168\/ARM210 as a disease modifier in dystrophin-deficient mdx mice: Proof-of-concept study and independent validation of efficacy","volume":"32","author":"Capogrosso","year":"2018","journal-title":"FASEB J."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1006","DOI":"10.1093\/hmg\/ddab100","article-title":"Pharmacological activation of SERCA ameliorates dystrophic phenotypes in dystrophin-deficient mdx mice","volume":"30","author":"Nogami","year":"2021","journal-title":"Hum. Mol. Genet."},{"key":"ref_67","doi-asserted-by":"crossref","unstructured":"Reid, A.L., and Alexander, M.S. (2021). The Interplay of Mitophagy and Inflammation in Duchenne Muscular Dystrophy. Life, 11.","DOI":"10.3390\/life11070648"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"eadi2767","DOI":"10.1126\/sciadv.adi2767","article-title":"ANT-dependent MPTP underlies necrotic myofiber death in muscular dystrophy","volume":"9","author":"Bround","year":"2023","journal-title":"Sci. Adv."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1016\/j.yjmcc.2009.02.021","article-title":"What is the mitochondrial permeability transition pore?","volume":"46","author":"Halestrap","year":"2009","journal-title":"J. Mol. Cell. Cardiol."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1038\/nm1736","article-title":"Genetic and pharmacologic inhibition of mitochondrial-dependent necrosis attenuates muscular dystrophy","volume":"14","author":"Millay","year":"2008","journal-title":"Nat. Med."},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Dubinin, M.V., Starinets, V.S., Talanov, E.Y., Mikheeva, I.B., Belosludtseva, N.V., and Belosludtsev, K.N. (2021). Alisporivir Improves Mitochondrial Function in Skeletal Muscle of mdx Mice but Suppresses Mitochondrial Dynamics and Biogenesis. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22189780"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1080\/14656566.2018.1560424","article-title":"Efficacy and safety of alisporivir for the treatment of hepatitis C infection","volume":"20","author":"Stanciu","year":"2019","journal-title":"Exp. Opin. Pharmacother."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"eabb0319","DOI":"10.1126\/scitranslmed.abb0319","article-title":"Urolithin A improves muscle function by inducing mitophagy in muscular dystrophy","volume":"13","author":"Luan","year":"2021","journal-title":"Sci. Transl. Med."},{"key":"ref_74","first-page":"e21276","article-title":"Mss51 deletion increases endurance and ameliorates histopathology in the mdx mouse model of Duchenne muscular dystrophy","volume":"35","author":"Moyer","year":"2021","journal-title":"FASEB J."},{"key":"ref_75","first-page":"268","article-title":"Clinical aspects of Emery-Dreifuss muscular dystrophy","volume":"9","year":"2018","journal-title":"Nucleus"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"728","DOI":"10.1097\/WCO.0000000000000741","article-title":"Emery\u2013Dreifuss muscular dystrophy: Focal point nuclear envelope","volume":"32","author":"Muchir","year":"2019","journal-title":"Curr. Opin. Neurol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"436","DOI":"10.1002\/mus.26782","article-title":"Emery-Dreifuss muscular dystrophy","volume":"61","author":"Heller","year":"2020","journal-title":"Muscle Nerve"},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1016\/j.cell.2013.01.009","article-title":"LBR and lamin A\/C sequentially tether peripheral heterochromatin and inversely regulate differentiation","volume":"152","author":"Solovei","year":"2013","journal-title":"Cell"},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Bertrand, A.T., Brull, A., Azibani, F., Benarroch, L., Chikhaoui, K., Stewart, C.L., Medalia, O., Ben Yaou, R., and Bonne, G. (2020). Lamin A\/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery\u2013Dreifuss Muscular Dystrophy. Cells, 9.","DOI":"10.3390\/cells9040844"},{"key":"ref_80","doi-asserted-by":"crossref","unstructured":"Meinke, P., Kerr, A.R.W., Czapiewski, R., de Las Heras, J.I., Dixon, C.R., Harris, E., K\u00f6lbel, H., Muntoni, F., Schara, U., and Straub, V. (2020). A multistage sequencing strategy pinpoints novel candidate alleles for Emery-Dreifuss muscular dystrophy and supports gene misregulation as its pathomechanism. eBioMedicine, 51.","DOI":"10.1016\/j.ebiom.2019.11.048"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1038\/ncb2927","article-title":"Isolated nuclei adapt to force and reveal a mechanotransduction pathway in the nucleus","volume":"16","author":"Guilluy","year":"2014","journal-title":"Nat. Cell Biol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"864","DOI":"10.1038\/ncb3387","article-title":"Mechanical regulation of transcription controls Polycomb-mediated gene silencing during lineage commitment","volume":"18","author":"Le","year":"2016","journal-title":"Nat. Cell Biol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"8897","DOI":"10.1021\/bi602636m","article-title":"An emerin \u201cproteome\u201d: Purification of distinct emerin-containing complexes from HeLa cells suggests molecular basis for diverse roles including gene regulation, mRNA splicing, signaling, mechanosensing, and nuclear architecture","volume":"46","author":"Holaska","year":"2007","journal-title":"Biochemistry"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"5586","DOI":"10.1093\/nar\/gky288","article-title":"Emerin modulates spatial organization of chromosome territories in cells on softer matrices","volume":"46","author":"Pradhan","year":"2018","journal-title":"Nucleic Acids Res."},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1536\/ihj.17-604","article-title":"Cardiac Involvement in Emery-Dreifuss Muscular Dystrophy and Related Management Strategies","volume":"60","author":"Wang","year":"2019","journal-title":"Int. Heart J."},{"key":"ref_86","first-page":"385","article-title":"MAPK signaling pathways and HDAC3 activity are disrupted during differentiation of emerin-null myogenic progenitor cells","volume":"10","author":"Collins","year":"2017","journal-title":"Dis. Model Mech."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1093\/hmg\/ddi017","article-title":"Mouse model carrying H222P-Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies","volume":"14","author":"Arimura","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.3389\/fphys.2018.01533","article-title":"The pathogenesis and therapies of striated muscle laminopathies","volume":"9","author":"Brull","year":"2018","journal-title":"Front. Physiol."},{"key":"ref_89","first-page":"4043","article-title":"Microtubule cytoskeleton regulates Connexin 43 localization and cardiac conduction in cardiomyopathy caused by mutation in A-type lamins gene","volume":"28","author":"Macquart","year":"2019","journal-title":"Hum. Mol. Genet."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1212\/WNL.57.8.1434","article-title":"Randomized, double-blind, placebo-controlled trial of albuterol in facioscapulohumeral dystrophy","volume":"57","author":"Kissel","year":"2001","journal-title":"Neurology"},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1212\/01.WNL.0000134660.30793.1F","article-title":"Strength training and albuterol in facioscapulohumeral muscular dystrophy","volume":"63","author":"Vogels","year":"2004","journal-title":"Neurology"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"4658","DOI":"10.1111\/bcp.14884","article-title":"Phase 1 clinical trial of losmapimod in facioscapulohumeral dystrophy: Safety, tolerability, pharmacokinetics, and target engagement","volume":"87","author":"Mellion","year":"2021","journal-title":"Br. J. Clin. Pharmacol."},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"e163333","DOI":"10.1172\/JCI163333","article-title":"Net39 protects muscle nuclei from mechanical stress during the pathogenesis of Emery-Dreifuss muscular dystrophy","volume":"133","author":"Zhang","year":"2023","journal-title":"J. Clin. Investig."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/j.cell.2017.03.035","article-title":"mTor signaling in growth, metabolism, and disease","volume":"169","author":"Saxton","year":"2017","journal-title":"Cell"},{"key":"ref_95","doi-asserted-by":"crossref","unstructured":"Vignier, N., and Muchir, A. (2020). An Omics View of Emery\u2013Dreifuss Muscular Dystrophy. J. Pers. Med., 10.","DOI":"10.3390\/jpm10020050"},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"e1180","DOI":"10.1212\/WNL.0000000000008123","article-title":"Patient-reported symptoms in facioscapulohumeral muscular dystrophy (PRISM-FSHD)","volume":"93","author":"Hamel","year":"2019","journal-title":"Neurology"},{"key":"ref_97","doi-asserted-by":"crossref","unstructured":"Chen, T.H., Wu, Y.Z., and Tseng, Y.H. (2020). Early-onset infantile facioscapulohumeral muscular dystrophy: A timely review. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21207783"},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"964","DOI":"10.1111\/dmcn.14142","article-title":"Clinical features of fascioscapulohumeral muscular dystrophy 1 in childhood","volume":"61","author":"Steel","year":"2019","journal-title":"Dev. Med. Child Neurol."},{"key":"ref_99","doi-asserted-by":"crossref","unstructured":"Lim, K.R.Q., Nguyen, Q., and Yokota, T. (2020). DUX4 Signalling in the Pathogenesis of Facioscapulohumeral Muscular Dystrophy. Int. J. Mol. Sci., 21.","DOI":"10.3390\/ijms21030729"},{"key":"ref_100","doi-asserted-by":"crossref","unstructured":"Caputo, V., Megalizzi, D., Fabrizio, C., Termine, A., Colantoni, L., Caltagirone, C., Giardina, E., Cascella, R., and Strafella, C. (2022). Update on the Molecular Aspects and Methods Underlying the Complex Architecture of FSHD. Cells, 11.","DOI":"10.3390\/cells11172687"},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1007\/s11910-016-0667-0","article-title":"Facioscapulohumeral Dystrophy","volume":"16","author":"Wang","year":"2016","journal-title":"Curr. Neurol. Neurosci. Rep."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"e1211","DOI":"10.1212\/WNL.0000000000010155","article-title":"Evaluation of inflammatory lesions over 2 years in facioscapulohumeral muscular dystrophy","volume":"95","author":"Dahlqvist","year":"2002","journal-title":"Neurology"},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"e13695","DOI":"10.15252\/emmm.202013695","article-title":"Pathomechanisms and biomarkers in facioscapulohumeral muscular dystrophy: Roles of DUX4 and PAX7","volume":"13","author":"Banerji","year":"2021","journal-title":"EMBO Mol. Med."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"1650","DOI":"10.1126\/science.1189044","article-title":"A unifying genetic model for facioscapulohumeral muscular dystrophy","volume":"329","author":"Lemmers","year":"2010","journal-title":"Science"},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/ng.2454","article-title":"Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2","volume":"44","author":"Lemmers","year":"2012","journal-title":"Nat. Genet."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1038\/ng.3844","article-title":"Conserved roles of mouse DUX and human DUX4 in activating cleavage-stage genes and MERVL\/HERVL retrotransposons","volume":"49","author":"Hendrickson","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"8207","DOI":"10.1038\/ncomms9207","article-title":"Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development","volume":"6","author":"Katayama","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"935","DOI":"10.1038\/ng.3846","article-title":"Conservation and innovation in the DUX4-family gene network","volume":"49","author":"Whiddon","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"941","DOI":"10.1038\/ng.3858","article-title":"DUX-family transcription factors regulate zygotic genome activation in placental mammals","volume":"49","author":"Planet","year":"2017","journal-title":"Nat. Genet."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"R17","DOI":"10.1093\/hmg\/ddv237","article-title":"Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy","volume":"24","author":"Hewitt","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_111","doi-asserted-by":"crossref","unstructured":"Snider, L., Geng, L.N., Lemmers, R.J., Kyba, M., Ware, C.B., Nelson, A.M., Tawil, R., Filippova, G.N., van der Maarel, S.M., and Tapscott, S.J. (2010). Facioscapulohumeral dystrophy: Incomplete suppression of a retrotransposed gene. PLoS Genet., 6.","DOI":"10.1371\/journal.pgen.1001181"},{"key":"ref_112","doi-asserted-by":"crossref","unstructured":"Das, S., and Chadwick, B.P. (2016). Influence of repressive histone and DNA methylation upon D4Z4 transcription in non-myogenic cells. PLoS ONE, 11.","DOI":"10.1371\/journal.pone.0160022"},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1124\/jpet.119.259663","article-title":"Clinically Advanced p38 Inhibitors Suppress DUX4 Expression in Cellular and Animal Models of Facioscapulohumeral Muscular Dystrophy","volume":"370","author":"Oliva","year":"2019","journal-title":"J. Pharmacol. Exper. Ther."},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1038\/ng0992-26","article-title":"Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy","volume":"2","author":"Wijmenga","year":"1992","journal-title":"Nat. Genet."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.devcel.2011.11.013","article-title":"DUX4 activates germline genes, retroelements, and immune mediators: Implications for facioscapulohumeral dystrophy","volume":"22","author":"Geng","year":"2012","journal-title":"Dev. Cell"},{"key":"ref_116","doi-asserted-by":"crossref","first-page":"104137","DOI":"10.1016\/j.isci.2022.104137","article-title":"DUX4 is a multifunctional factor priming human embryonic genome activation","volume":"25","author":"Vuoristo","year":"2022","journal-title":"iScience"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s13311-018-00675-3","article-title":"Facioscapulohumeral muscular dystrophy: Update on pathogenesis and future treatments","volume":"15","author":"Hamel","year":"2018","journal-title":"Neurotherapeutics"},{"key":"ref_118","doi-asserted-by":"crossref","unstructured":"Marsollier, A.-C., Joubert, R., Mariot, V., and Dumonceaux, J. (2018). Targeting the polyadenylation signal of pre-mRNA: A new gene silencing approach for facioscapulohumeral dystrophy. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19051347"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1136\/jmedgenet-2019-106402","article-title":"Intronic SMCHD1 variants in FSHD: Testing the potential for CRISPR-Cas9 genome editing","volume":"56","author":"Goossens","year":"2019","journal-title":"J. Med. Genet."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"1020","DOI":"10.1016\/j.ajhg.2016.03.013","article-title":"Mutations in DNMT3B modify epigenetic repression of the D4Z4 repeat and the penetrance of facioscapulohumeral dystrophy","volume":"98","author":"Lemmers","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1152\/physrev.00028.2007","article-title":"Role of beta-adrenoceptor signaling in skeletal muscle: Implications for muscle wasting and disease","volume":"88","author":"Lynch","year":"2008","journal-title":"Physiol. Rev."},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s13395-017-0134-x","article-title":"BET bromodomain inhibitors and agonists of the beta-2 adrenergic receptor identified in screens for compounds that inhibit DUX4 expression in FSHD muscle cells","volume":"7","author":"Campbell","year":"2017","journal-title":"Skelet. Muscle"},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1124\/jpet.119.264689","article-title":"p38\u03b1 Regulates Expression of DUX4 in a Model of Facioscapulohumeral Muscular Dystrophy","volume":"374","author":"Rojas","year":"2020","journal-title":"J. Pharmacol. Exper. Ther."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"5161","DOI":"10.1093\/nar\/gkw141","article-title":"DUX4 recruits p300\/CBP through its C-terminus and induces global H3K27 acetylation changes","volume":"44","author":"Choi","year":"2016","journal-title":"Nucleic Acids Res."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"eaaw7781","DOI":"10.1126\/sciadv.aaw7781","article-title":"A novel P300 inhibitor reverses DUX4-mediated global histone H3 hyperacetylation, target gene expression, and cell death","volume":"5","author":"Bosnakovski","year":"2019","journal-title":"Sci. Adv."},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.spen.2006.06.006","article-title":"The childhood limb-girdle muscular dystrophies","volume":"13","author":"Straub","year":"2006","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"3175","DOI":"10.1093\/brain\/awp236","article-title":"Prevalence of genetic muscle disease in Northern England: In-depth analysis of a muscle clinic population","volume":"132","author":"Norwood","year":"2009","journal-title":"Brain"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"e92","DOI":"10.1212\/NXG.0000000000000092","article-title":"Rare disease clinical trials: Power in numbers","volume":"2","author":"Wicklund","year":"2016","journal-title":"Neurol. Genet."},{"key":"ref_129","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1002\/(SICI)1097-4598(199904)22:4<473::AID-MUS8>3.0.CO;2-5","article-title":"Heart involvement in muscular dystrophy due to sarcoglycan gene mutations","volume":"22","author":"Melacini","year":"1999","journal-title":"Muscle Nerve"},{"key":"ref_130","doi-asserted-by":"crossref","unstructured":"S\u00e1nchez Riera, C., Lozanoska-Ochser, B., Testa, S., Fornetti, E., Bouch\u00e9, M., and Madaro, L. (2021). Muscle diversity, heterogeneity, and gradients: Learning from sarcoglycanopathies. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22052502"},{"key":"ref_131","doi-asserted-by":"crossref","unstructured":"Molina, T., Fabre, P., and Dumont, N.A. (2021). Fibro-adipogenic progenitors in skeletal muscle homeostasis, regeneration and diseases. Open Biol., 11.","DOI":"10.1098\/rsob.210110"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"1549","DOI":"10.1002\/(SICI)1097-4598(199811)21:11<1549::AID-MUS30>3.0.CO;2-T","article-title":"Primary alpha-sarcoglycan deficiency responsive to immunosuppression over three years","volume":"21","author":"Connolly","year":"1998","journal-title":"Muscle Nerve"},{"key":"ref_133","first-page":"12","article-title":"Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort","volume":"20","author":"Kuntz","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"4774","DOI":"10.1158\/0008-5472.CAN-07-6307","article-title":"BIBF 1120: Triple angiokinase inhibitor with sustained receptor blockade and good antitumor efficacy","volume":"68","author":"Hilberg","year":"2008","journal-title":"Cancer Res."},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/s41419-018-0792-6","article-title":"Nintedanib decreases muscle fibrosis and improves muscle function in a murine model of dystrophinopathy","volume":"9","author":"Gallardo","year":"2018","journal-title":"Cell Death Dis."},{"key":"ref_136","doi-asserted-by":"crossref","unstructured":"Alonso-P\u00e9rez, J., Carrasco-Rozas, A., Borrell-Pages, M., Fern\u00e1ndez-Sim\u00f3n, E., Pi\u00f1ol-Jurado, P., Badimon, L., Wollin, L., Lleix\u00e0, C., Gallardo, E., and Oliv\u00e9, M. (2022). Nintedanib Reduces Muscle Fibrosis and Improves Muscle Function of the Alpha-Sarcoglycan-Deficient Mice. Biomedicines, 10.","DOI":"10.3390\/biomedicines10102629"},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1172\/JCI13505","article-title":"Role of AMP-activated protein kinase in mechanism of metformin action","volume":"108","author":"Zhou","year":"2001","journal-title":"J. Clin. Investig."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"e1914171","DOI":"10.1001\/jamanetworkopen.2019.14171","article-title":"Effect of Combination l-Citrulline and Metformin Treatment on Motor Function in Patients With Duchenne Muscular Dystrophy: A Randomized Clinical Trial","volume":"2","author":"Hafner","year":"2019","journal-title":"JAMA Netw. Open"},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1086\/324412","article-title":"Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin a2 Deficiency and Abnormal Glycosylation of a-Dystroglycan","volume":"69","author":"Brockington","year":"2001","journal-title":"Am. J. Hum. Genet."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"11534","DOI":"10.1038\/ncomms11534","article-title":"ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto alpha-dystroglycan","volume":"7","author":"Gerin","year":"2016","journal-title":"Nat. Commun."},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1038\/1689","article-title":"A gene related to Caenorhabditis elegans type 2Bl","volume":"20","author":"Bashir","year":"1998","journal-title":"Nat. Genet."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"2200","DOI":"10.2174\/1872208311206030200","article-title":"Poloxamer 188 (p188) as a membrane resealing reagent in biomedical applications","volume":"6","author":"Moloughney","year":"2012","journal-title":"Recent Pat. Biotechnol."},{"key":"ref_143","doi-asserted-by":"crossref","unstructured":"Vallecillo-Z\u00faniga, M.L., Poulson, P.D., Luddington, J.S., Arnold, C.J., Rathgeber, M., Kartchner, B.C., Hayes, S., Gill, H., Valdoz, J.C., and Spallino, J.L. (2021). Therapeutic Benefit of Galectin-1: Beyond Membrane Repair, a Multifaceted Approach to LGMD2B. Cells, 10.","DOI":"10.3390\/cells10113210"},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1016\/j.coph.2017.07.001","article-title":"Therapeutic advances in musculoskeletal AAV targeting approaches","volume":"34","author":"Bulaklak","year":"2017","journal-title":"Curr. Opin. Pharmacol."},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"e005418","DOI":"10.1161\/CIRCHEARTFAILURE.118.005418","article-title":"Metformin Enhances Autophagy and Provides Cardioprotection in \u03b4-Sarcoglycan Deficiency-Induced Dilated Cardiomyopathy","volume":"12","author":"Kanamori","year":"2019","journal-title":"Circ. Heart Fail."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"642908","DOI":"10.3389\/fphys.2021.642908","article-title":"Metformin Increases Sarcolemma Integrity and Ameliorates Neuromuscular Deficits in a Murine Model of Duchenne Muscular Dystrophy","volume":"12","author":"Dong","year":"2021","journal-title":"Front. Physiol."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.immuni.2017.06.020","article-title":"The P2X7 Receptor in Infection and Inflammation","volume":"47","author":"Sarti","year":"2017","journal-title":"Immunity"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"7907","DOI":"10.1074\/jbc.274.12.7907","article-title":"Ecto-ATPase Activity of-Sarcoglycan (Adhalin)","volume":"274","author":"Betto","year":"1999","journal-title":"J. Biol. Chem."},{"key":"ref_149","doi-asserted-by":"crossref","unstructured":"Raffaghello, L., Principi, E., Baratto, S., Panicucci, C., Pintus, S., Antonini, F., Del Zotto, G., Benzi, A., Bruzzone, S., and Scudieri, P. (2022). P2X7 Receptor Antagonist Reduces Fibrosis and Inflammation in a Mouse Model of Alpha-Sarcoglycan Muscular Dystrophy. Pharmaceuticals, 15.","DOI":"10.3390\/ph15010089"},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1093\/jb\/mvy020","article-title":"Ribitol-phosphate-a newly identified posttranslational glycosylation unit in mammals: Structure, modification enzymes and relationship to human diseases","volume":"163","author":"Kanagawa","year":"2018","journal-title":"J. Biochem."},{"key":"ref_151","first-page":"1","article-title":"Genetic basis of limb-girdle muscular dystrophies: The 2014 update","volume":"33","author":"Nigro","year":"2014","journal-title":"Acta Myol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1038\/nrneurol.2016.35","article-title":"Limb-girdle muscular dystrophies\u2014International collaborations for translational research","volume":"12","author":"Thompson","year":"2016","journal-title":"Nat. Rev. Neurol."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"1635","DOI":"10.1016\/j.ajpath.2016.02.015","article-title":"Glucocorticoid steroid and alendronate treatment alleviates dystrophic phenotype with enhanced functional glycosylation of \u03b1-dystroglycan in mouse model of limb-girdle muscular dystrophy with FKRPP448L mutation","volume":"186","author":"Wu","year":"2016","journal-title":"Am. J. Pathol."},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1093\/hmg\/ddg043","article-title":"Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease","volume":"12","author":"Taniguchi","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"e61","DOI":"10.1136\/jmg.2003.013870","article-title":"Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome","volume":"41","author":"Voit","year":"2004","journal-title":"J. Med. Genet."},{"key":"ref_156","doi-asserted-by":"crossref","first-page":"3995","DOI":"10.1093\/hmg\/ddq314","article-title":"Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies","volume":"19","author":"Chan","year":"2010","journal-title":"Hum. Mol. Genet."},{"key":"ref_157","doi-asserted-by":"crossref","first-page":"3058","DOI":"10.1111\/jcmm.14218","article-title":"A molecular overview of the primary dystroglycanopathies","volume":"23","author":"Brancaccio","year":"2018","journal-title":"J. Cell. Mol. Med."},{"key":"ref_158","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1016\/j.ajpath.2017.12.011","article-title":"Long-term treatment of tamoxifen and raloxifene alleviates dystrophic phenotype and enhances muscle functions of FKRP dystroglycanopathy","volume":"188","author":"Wu","year":"2018","journal-title":"Am. J. Pathol."},{"key":"ref_159","doi-asserted-by":"crossref","unstructured":"Gui, Y.S., Wang, L., Tian, X., Li, X., Ma, A., Zhou, W., Zeng, N., Zhang, J., Cai, B., and Zhang, H. (2015). mTOR overactivation and compromised autophagy in the pathogenesis of pulmonary fibrosis. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0138625"},{"key":"ref_160","doi-asserted-by":"crossref","first-page":"102","DOI":"10.1016\/j.bbrc.2015.05.032","article-title":"mTOR is necessary for proper satellite cell activity and skeletal muscle regeneration","volume":"463","author":"Zhang","year":"2015","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_161","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1186\/s13395-016-0091-9","article-title":"Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy","volume":"6","author":"Foltz","year":"2016","journal-title":"Skelet. Muscle"},{"key":"ref_162","unstructured":"Sproule, D. (2022, January 11\u201315). Preliminary Results from MLB-01-003: An Open Label Phase 2 Study of BBP-418 in Patients with Limb-Girdle Muscular Dystrophy Type 2I. Proceedings of the World Muscle Society 2022 Congress, Halifax, NS, Canada."},{"key":"ref_163","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1016\/j.ceb.2007.07.001","article-title":"Dysferlin and muscle membrane repair","volume":"19","author":"Han","year":"2007","journal-title":"Curr. Opin. Cell Biol."},{"key":"ref_164","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1111\/cge.14216","article-title":"Dysferlinopathies: Clinical and genetic variability","volume":"102","author":"Ivanova","year":"2022","journal-title":"Clin. Genet."},{"key":"ref_165","doi-asserted-by":"crossref","first-page":"382","DOI":"10.1016\/j.bpj.2013.11.4492","article-title":"Quantitation of the calcium and membrane binding properties of the C2 domains of dysferlin","volume":"106","author":"Abdullah","year":"2014","journal-title":"Biophys. J."},{"key":"ref_166","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/j.expneurol.2016.06.026","article-title":"Dysferlin function in skeletal muscle: Possible pathological mechanisms and therapeutical targets in dysferlinopathies","volume":"283","author":"Cea","year":"2016","journal-title":"Exp. Neurol."},{"key":"ref_167","doi-asserted-by":"crossref","first-page":"20831","DOI":"10.1073\/pnas.1307960110","article-title":"Dysferlin stabilizes stress-induced Ca2+ signaling in the transverse tubule membrane","volume":"110","author":"Kerr","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_168","doi-asserted-by":"crossref","first-page":"1668","DOI":"10.1016\/j.ajpath.2014.02.005","article-title":"Lipid accumulation in dysferlin-deficient muscles","volume":"184","author":"Grounds","year":"2014","journal-title":"Am. J. Pathol."},{"key":"ref_169","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1111\/tra.12370","article-title":"Ferlins Show Tissue-Specific Expression and Segregate as Plasma Membrane\/Late Endosomal or Trans-Golgi\/Recycling Ferlins","volume":"17","author":"Redpath","year":"2016","journal-title":"Traffic"},{"key":"ref_170","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/ana.10080","article-title":"A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy","volume":"51","author":"Ho","year":"2002","journal-title":"Ann. Neurol."},{"key":"ref_171","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1016\/B978-0-08-045031-5.00007-4","article-title":"Dysferlinopathies","volume":"101","author":"Amato","year":"2011","journal-title":"Handb. Clin. Neurol."},{"key":"ref_172","doi-asserted-by":"crossref","first-page":"e89","DOI":"10.1212\/NXG.0000000000000089","article-title":"Jain COS Consortium. The Clinical Outcome Study for dysferlinopathy: An international multicenter study","volume":"2","author":"Harris","year":"2016","journal-title":"Neurol. Genet."},{"key":"ref_173","doi-asserted-by":"crossref","first-page":"531","DOI":"10.1002\/mus.27524","article-title":"Cardiac and pulmonary findings in dysferlinopathy: A 3-year, longitudinal study","volume":"65","author":"Moore","year":"2022","journal-title":"Muscle Nerve"},{"key":"ref_174","doi-asserted-by":"crossref","first-page":"15894","DOI":"10.1074\/jbc.M109.009589","article-title":"Membrane Repair Defects in Muscular Dystrophy Are Linked to Altered Interaction between MG53, Caveolin-3, and Dysferlin","volume":"284","author":"Cai","year":"2009","journal-title":"J. Biol. Chem."},{"key":"ref_175","doi-asserted-by":"crossref","unstructured":"Li, Z.W., and Shaw, G.S. (2023). Role of calcium-sensor proteins in cell membrane repair. Biosci. Rep., 43.","DOI":"10.1042\/BSR20220765"},{"key":"ref_176","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1038\/nature01573","article-title":"Defective membrane repair in dysferlin-deficient muscular dystrophy","volume":"423","author":"Bansal","year":"2003","journal-title":"Nature"},{"key":"ref_177","doi-asserted-by":"crossref","first-page":"774","DOI":"10.2353\/ajpath.2008.070327","article-title":"Dysferlin deficiency enhances monocyte phagocytosis: A model for the inflammatory onset of limb-girdle muscular dystrophy 2B","volume":"172","author":"Nagaraju","year":"2008","journal-title":"Am. J. Pathol."},{"key":"ref_178","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1186\/s40478-022-01320-z","article-title":"The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies","volume":"10","author":"Becker","year":"2022","journal-title":"Acta Neuropathol. Commun."},{"key":"ref_179","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.2353\/ajpath.2009.090107","article-title":"Genetic Manipulation of Dysferlin Expression in Skeletal Muscle Novel Insights into Muscular Dystrophy","volume":"175","author":"Millay","year":"2009","journal-title":"Am. J. Pathol."},{"key":"ref_180","doi-asserted-by":"crossref","first-page":"50ra69","DOI":"10.1126\/scitranslmed.3000951","article-title":"A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy","volume":"2","author":"Krahn","year":"2010","journal-title":"Sci. Trans. Med."},{"key":"ref_181","doi-asserted-by":"crossref","unstructured":"Lostal, W., Bartoli, M., Roudaut, C., Bourg, N., Krahn, M., Pryadkina, M., Borel, P., Suel, L., Roche, J.A., and Stockholm, D. (2012). Lack of correlation between outcomes of membrane repair assay and correction of dystrophic changes in experimental therapeutic strategy in dysferlinopathy. PLoS ONE, 7.","DOI":"10.1371\/journal.pone.0038036"},{"key":"ref_182","doi-asserted-by":"crossref","first-page":"2891","DOI":"10.2353\/ajpath.2010.090058","article-title":"Inflammasome up-regulation and activation in dysferlin-deficient skeletal muscle","volume":"176","author":"Rawat","year":"2010","journal-title":"Am. J. Pathol."},{"key":"ref_183","doi-asserted-by":"crossref","first-page":"1976","DOI":"10.1093\/hmg\/ddp121","article-title":"Attenuated muscle regeneration is a key factor in dysferlin-deficient muscular dystrophy","volume":"18","author":"Chiu","year":"2009","journal-title":"Hum. Mol. Genet."},{"key":"ref_184","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1186\/1750-1172-8-26","article-title":"Treatment of dysferlinopathy with deflazacort: A double-blind, placebo-controlled clinical trial","volume":"8","author":"Walter","year":"2013","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_185","doi-asserted-by":"crossref","first-page":"4366","DOI":"10.1172\/JCI42390","article-title":"Genetic ablation of complement C3 attenuates muscle pathology in dysferlin-deficient mice","volume":"120","author":"Han","year":"2010","journal-title":"J. Clin. Investig."},{"key":"ref_186","doi-asserted-by":"crossref","first-page":"2231","DOI":"10.1016\/j.ymthe.2018.07.021","article-title":"Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit","volume":"26","author":"Sreetama","year":"2018","journal-title":"Mol. Ther."},{"key":"ref_187","doi-asserted-by":"crossref","first-page":"1385","DOI":"10.1002\/jcph.1632","article-title":"Exposure-Response Analysis of Vamorolone (VBP15) in Boys With Duchenne Muscular Dystrophy","volume":"60","author":"Li","year":"2020","journal-title":"J. Clin. Pharmacol."},{"key":"ref_188","doi-asserted-by":"crossref","first-page":"4524","DOI":"10.1073\/pnas.89.10.4524","article-title":"Surfactant-induced sealing of electropermeabilized skeletal muscle membranes in vivo","volume":"89","author":"Lee","year":"1992","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_189","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.burns.2004.02.009","article-title":"Poloxamer 188 prevents acute necrosis of adult skeletal muscle cells following high-dose irradiation","volume":"30","author":"Greenebaum","year":"2004","journal-title":"Burns"},{"key":"ref_190","doi-asserted-by":"crossref","first-page":"15042","DOI":"10.1038\/mtm.2015.42","article-title":"Membrane-stabilizing copolymers confer marked protection to dystrophic skeletal muscle in vivo","volume":"2","author":"Houang","year":"2015","journal-title":"Mol. Ther. Methods Clin. Dev."},{"key":"ref_191","doi-asserted-by":"crossref","first-page":"1140","DOI":"10.1172\/JCI41329","article-title":"Chronic administration of membrane sealant prevents severe cardiac injury and ventricular dilatation in dystrophic dogs","volume":"120","author":"Townsend","year":"2010","journal-title":"J. Clin. Investig."},{"key":"ref_192","doi-asserted-by":"crossref","unstructured":"Vallecillo-Z\u00faniga, M.L., Rathgeber, M.F., Poulson, P.D., Hayes, S., Luddington, J.S., Gill, H.N., Teynor, M., Kartchner, B.C., Valdoz, J., and Stowell, C. (2020). Treatment with galectin-1 improves myogenic potential and membrane repair in dysferlin-deficient models. PLoS ONE, 15.","DOI":"10.1371\/journal.pone.0238441"},{"key":"ref_193","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1242\/jcs.115.2.355","article-title":"The effect of galectin-1 on the differentiation of fibroblasts and myoblasts in vitro","volume":"115","author":"Goldring","year":"2002","journal-title":"J. Cell Sci."},{"key":"ref_194","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/S0960-8966(01)00280-2","article-title":"The muscle-specific marker desmin is expressed in a proportion of human dermal fibroblasts after their exposure to galectin-1","volume":"12","author":"Goldring","year":"2002","journal-title":"Neuromuscul. Disord."},{"key":"ref_195","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1002\/dvdy.21123","article-title":"Lack of galectin-1 results in defects in myoblast fusion and muscle regeneration","volume":"236","author":"Georgiadis","year":"2007","journal-title":"Dev. Dyn."},{"key":"ref_196","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1038\/mt.2015.105","article-title":"Galectin-1 protein therapy prevents pathology and improves muscle function in the mdx mouse model of Duchenne muscular dystrophy","volume":"23","author":"Wuebbles","year":"2015","journal-title":"Mol. Ther."},{"key":"ref_197","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1083\/jcb.201003053","article-title":"Exocytosis of acid sphingomyelinase by wounded cells promotes endocytosis and plasma membrane repair","volume":"189","author":"Tam","year":"2010","journal-title":"J. Cell Biol."},{"key":"ref_198","doi-asserted-by":"crossref","first-page":"e141295","DOI":"10.1172\/JCI141295","article-title":"Secreted acid sphingomyelinase as a potential gene therapy for limb girdle muscular dystrophy 2B","volume":"132","author":"Bittel","year":"2022","journal-title":"J. Clin. Investig."},{"key":"ref_199","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.spen.2011.10.010","article-title":"Congenital muscular dystrophies: A brief review","volume":"18","author":"Bertini","year":"2011","journal-title":"Semin. Pediatr. Neurol."},{"key":"ref_200","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1017\/cjn.2015.311","article-title":"A systemactic review and meta-analysis on the epidemiology of the muscular dystrophies","volume":"43","author":"Mah","year":"2016","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_201","doi-asserted-by":"crossref","first-page":"381","DOI":"10.3233\/JND-221552","article-title":"Estimating the prevalence of LAMA2 Congenital Muscular Dystrophy using population genetics databases","volume":"10","author":"Lake","year":"2023","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_202","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1212\/01.WNL.0000138498.66940.7F","article-title":"LAMA2 loss-of-function mutation in a girl with a mild congenital muscular dystrophy","volume":"63","author":"Prandini","year":"2004","journal-title":"Neurology"},{"key":"ref_203","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1016\/j.nmd.2010.02.001","article-title":"Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations","volume":"20","author":"Geranmayeh","year":"2010","journal-title":"Neuromuscul. Disord."},{"key":"ref_204","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1007\/s00247-004-1398-y","article-title":"Merosin-deficient congenital muscular dystrophy (CMD): A study of 25 Brazilian patients using MRI","volume":"35","author":"Leite","year":"2005","journal-title":"Ped. Radiol."},{"key":"ref_205","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.nmd.2013.12.011","article-title":"Members of International Standard of Care Committee for Congenital Muscular Dystrophies. Diagnostic approach to the congenital muscular dystrophies","volume":"24","author":"Wang","year":"2014","journal-title":"Neuromuscul. Disord."},{"key":"ref_206","doi-asserted-by":"crossref","first-page":"118","DOI":"10.3389\/fnmol.2020.00118","article-title":"Brain dysfunction in Lama2-Related congenital muscular dystrophy: Lessons from human case reports and mouse models","volume":"13","author":"Arreguin","year":"2020","journal-title":"Front. Mol. Neurosci."},{"key":"ref_207","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1111\/cge.12366","article-title":"Genotype\/phenotype analysis in Chinese laminin-\u03b12 deficient congenital muscular dystrophy patients","volume":"87","author":"Xiong","year":"2015","journal-title":"Clin. Genet."},{"key":"ref_208","doi-asserted-by":"crossref","first-page":"123","DOI":"10.3389\/fnmol.2020.00123","article-title":"LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness","volume":"13","author":"Sarkozy","year":"2020","journal-title":"Front. Mol. Neurosci."},{"key":"ref_209","doi-asserted-by":"crossref","first-page":"489","DOI":"10.1016\/j.bbrc.2005.12.224","article-title":"Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?","volume":"342","author":"Taniguchi","year":"2006","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_210","doi-asserted-by":"crossref","first-page":"59","DOI":"10.3389\/fnmol.2020.00059","article-title":"A family of laminin \u03b12 chain-deficient mouse mutant: Advancing the research on LAMA2-CMD","volume":"13","author":"Gawlik","year":"2020","journal-title":"Front. Molec. Neurosci."},{"key":"ref_211","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/2044-5040-4-14","article-title":"Dysregulation of matricellular proteins is an early signature of pathology in laminin-deficient muscular dystrophy","volume":"4","author":"Mehuron","year":"2014","journal-title":"Skelet. Muscle"},{"key":"ref_212","doi-asserted-by":"crossref","first-page":"844","DOI":"10.1172\/JCI3705","article-title":"Merosin-deficient congenital muscular dystrophy. Partial genetic correction in two mouse models","volume":"102","author":"Kuang","year":"1998","journal-title":"J. Clin. Investig."},{"key":"ref_213","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0014-5793(97)01007-7","article-title":"Laminin alpha2 chain-null mutant mice by targeted disruption of the Lama2 gene: A new model of merosin (laminin 2)-deficient congenital muscular dystrophy","volume":"415","author":"Miyagoe","year":"1997","journal-title":"FEBS Lett."},{"key":"ref_214","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1016\/0022-2836(81)90326-0","article-title":"Shapes, domain organizations and flexibility of laminin and fibronectin, two multifunctional proteins of the extracellular matrix","volume":"150","author":"Engel","year":"1981","journal-title":"J. Mol. Biol."},{"key":"ref_215","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1093\/emboj\/18.4.863","article-title":"Binding of the G domains of laminin \u03b11 and \u03b12 chains and perlecan to heparin, sulfatides, \u03b1-dystroglycan and several extracellular matrix proteins","volume":"18","author":"Talts","year":"1999","journal-title":"EMBO J."},{"key":"ref_216","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.biocel.2007.07.015","article-title":"Bridging structure with function: Structural regulator, and developmental role of laminins","volume":"40","author":"Tzu","year":"2008","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_217","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1002\/mus.10258","article-title":"Inhibition of dystroglycan binding to laminin disrupts the PI3K\/AKT pathway and survival signaling in muscle cells","volume":"26","author":"Langenbach","year":"2002","journal-title":"Muscle Nerve"},{"key":"ref_218","doi-asserted-by":"crossref","first-page":"4496","DOI":"10.1016\/j.bmc.2009.05.011","article-title":"Synthesis and biological evaluation of febrifugine analogues as potential antimalarial agents","volume":"17","author":"Zhu","year":"2009","journal-title":"Bioorg. Med. Chem."},{"key":"ref_219","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/S0895-7061(99)00152-1","article-title":"Angiotensin II upregulates transforming growth factor-beta type I receptor on rat vascular smooth muscle cells","volume":"13","author":"Fukuda","year":"2000","journal-title":"Am. J. Hypertens."},{"key":"ref_220","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1038\/ki.2008.213","article-title":"Angiotensin II activates the Smad pathway during epithelial mesenchymal transdifferentiation","volume":"74","author":"Carvajal","year":"2008","journal-title":"Kidney Int."},{"key":"ref_221","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/nm1536","article-title":"Angiotensin II type 1 receptor blockade attenuates TGF-beta-induced failure of muscle regeneration in multiple myopathic states","volume":"13","author":"Cohn","year":"2007","journal-title":"Nat. Med."},{"key":"ref_222","doi-asserted-by":"crossref","first-page":"1550","DOI":"10.1152\/japplphysiol.00898.2018","article-title":"Angiotensin II suppresses autophagy and disrupts ultrastructural morphology and function of mitochondria in mouse skeletal muscle","volume":"126","author":"Silva","year":"2019","journal-title":"J. Appl. Physiol."},{"key":"ref_223","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.jns.2009.01.020","article-title":"Intramuscular renin-angiotensin system is activated in human muscular dystrophy","volume":"280","author":"Sun","year":"2009","journal-title":"J. Neurol. Sci."},{"key":"ref_224","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1002\/ana.22694","article-title":"Losartan, a therapeutic candidate in congenital muscular dystrophy: Studies in the dy(2J)\/dy(2J) mouse","volume":"71","author":"Elbaz","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_225","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/2044-5040-2-18","article-title":"Angiotensin II type 1 receptor antagonists alleviate muscle pathology in the mouse model for laminin-\u03b12-deficient congenital muscular dystrophy (MDC1A)","volume":"2","author":"Meinen","year":"2012","journal-title":"Skelet. Muscle"},{"key":"ref_226","doi-asserted-by":"crossref","first-page":"51","DOI":"10.3233\/JND-140042","article-title":"Integrin dysregulation as a possible driver of matrix remodeling in Laminin-deficient congenital muscular dystrophy (MDC1A)","volume":"2","author":"Accorsi","year":"2015","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_227","first-page":"4624","article-title":"IGF-1\/GH axis enhances losartan treatment in Lama2-related muscular dystrophy","volume":"25","author":"Accorsi","year":"2016","journal-title":"Hum. Mol. Genet."},{"key":"ref_228","doi-asserted-by":"crossref","first-page":"1698","DOI":"10.1002\/pro.2374","article-title":"Molecular basis of MAP kinase regulation","volume":"22","author":"Peti","year":"2013","journal-title":"Protein Sci."},{"key":"ref_229","doi-asserted-by":"crossref","first-page":"dmm049916","DOI":"10.1242\/dmm.049916","article-title":"Vemurafenib improves muscle histopathology in a mouse model of LAMA2-related congenital muscular dystrophy","volume":"16","author":"Dagda","year":"2023","journal-title":"Dis. Model. Mech."},{"key":"ref_230","doi-asserted-by":"crossref","first-page":"218","DOI":"10.1002\/mus.21706","article-title":"Fibrosis inhibition and muscle histopathology improvement in laminin-alpha2-deficient mice","volume":"42","author":"Nevo","year":"2010","journal-title":"Muscle Nerve"},{"key":"ref_231","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1124\/jpet.109.160754","article-title":"Omigapil Ameliorates the Pathology of Muscle Dystrophy Caused by Laminin-\u03b12 Deficiency","volume":"331","author":"Erb","year":"2009","journal-title":"J. Pharm. Exp. Ther."},{"key":"ref_232","doi-asserted-by":"crossref","first-page":"4306","DOI":"10.1093\/hmg\/ddt280","article-title":"Triggering regeneration and tackling apoptosis: A combinatorial approach to treating congenital muscular dystrophy type 1A","volume":"22","author":"Yamauchi","year":"2013","journal-title":"Hum. Mol. Genet."},{"key":"ref_233","doi-asserted-by":"crossref","first-page":"541","DOI":"10.1093\/hmg\/ddq499","article-title":"Proteasome inhibition improves the muscle of laminin alpha2 chain deficient mice","volume":"20","author":"Carmignac","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_234","doi-asserted-by":"crossref","first-page":"1518","DOI":"10.1016\/j.ajpath.2014.01.019","article-title":"Bortezomib Partially Improves Laminin \u03b12 Chain\u2013Deficient Muscular Dystrophy","volume":"184","author":"Holmberg","year":"2014","journal-title":"Am. J. Path."},{"key":"ref_235","doi-asserted-by":"crossref","first-page":"E2582","DOI":"10.1073\/pnas.1305732110","article-title":"Decorin causes autophagy in endothelial cells via Peg3","volume":"110","author":"Buraschi","year":"2013","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_236","doi-asserted-by":"crossref","unstructured":"Harandi, V.M., Oliveira, B.M.S., Allamand, V., Friberg, A., Fontes-Oliveira, C.C., and Durbeej, M. (2020). Antioxidants Reduce Muscular Dystrophy in the dy2J\/dy2J Mouse Model of Laminin \u03b12 Chain-Deficient Muscular Dystrophy. Antioxidants, 9.","DOI":"10.3390\/antiox9030244"},{"key":"ref_237","doi-asserted-by":"crossref","first-page":"597","DOI":"10.1038\/ncomms1594","article-title":"Promotion of plasma membrane repair by vitamin E","volume":"2","author":"Howard","year":"2011","journal-title":"Nat. Commun."},{"key":"ref_238","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1038\/ng1270","article-title":"Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency","volume":"35","author":"Irwin","year":"2003","journal-title":"Nat. Genet."},{"key":"ref_239","doi-asserted-by":"crossref","first-page":"5225","DOI":"10.1073\/pnas.0800962105","article-title":"Cyclosporin A corrects mitochondiral dysfucntion and muscle apoptosis in patients with collagen VI myopathies","volume":"105","author":"Merlini","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_240","doi-asserted-by":"crossref","first-page":"139194","DOI":"10.1155\/2011\/139194","article-title":"Cyclosporine A in Ullrich congenital muscular dystrophy: Long-term results","volume":"2011","author":"Merlini","year":"2011","journal-title":"Oxid. Med. Cell. Longev."},{"key":"ref_241","doi-asserted-by":"crossref","unstructured":"Merlini, L., Sabatelli, P., Gualandi, F., Redivo, E., Di Martino, A., and Faldini, C. (2023). New Clinical and Immunofluoresence Data of Collagen VI-Related Myopathy:A Single Center Cohort of 69 Patients. Int. J. Mol. Sci., 24.","DOI":"10.3390\/ijms241512474"},{"key":"ref_242","doi-asserted-by":"crossref","unstructured":"Yu, Q., Sali, A., Van der Meulen, J., Creeden, B.K., Gordish-Dressman, H., Rutkowski, A., Rayavarapu, S., Uaesoontrachoon, K., Huynh, T., and Nagaraju, K. (2013). Omigapil treatment decreases fibrosis and improves respiratory rate in dy(2J) mouse model of congenital muscular dystrophy. PLoS ONE, 8.","DOI":"10.1371\/journal.pone.0065468"},{"key":"ref_243","doi-asserted-by":"crossref","first-page":"4891","DOI":"10.1093\/hmg\/ddr427","article-title":"Autophagy is increased in laminin alpha2 chain deficient muscle and its inhibition improves muscle morphology in a mouse model of MDC1A","volume":"20","author":"Carmignac","year":"2011","journal-title":"Hum. Mol. Genet."},{"key":"ref_244","doi-asserted-by":"crossref","first-page":"S175","DOI":"10.1097\/00002060-200211001-00018","article-title":"Oxidative stress and the pathogenesis of muscular dystrophies","volume":"81","author":"Rando","year":"2002","journal-title":"Am. J. Phys. Med. Rehabil."},{"key":"ref_245","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1002\/emmm.201100151","article-title":"Apoptosis inhibitors and mini-agrin have additive benefits in congenital muscular dystrophy mice","volume":"3","author":"Meinen","year":"2011","journal-title":"EMBO Mol. Med."},{"key":"ref_246","first-page":"348","article-title":"Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond","volume":"71\u201372","author":"Bateman","year":"2017","journal-title":"Matrix Biol."},{"key":"ref_247","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1006\/excr.1993.1134","article-title":"Integrin and Arg-Gly-Asp dependence of cell adhesion to the native and unfolded triple helix of collagen type VI","volume":"206","author":"Pfaff","year":"1993","journal-title":"Exp. Cell Res."},{"key":"ref_248","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1158\/0008-5472.CAN-03-2408","article-title":"TEM8 interacts with the cleaved C5 domain of collagen alpha 3(VI)","volume":"64","author":"Nanda","year":"2004","journal-title":"Cancer Res."},{"key":"ref_249","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.matbio.2017.10.005","article-title":"Decorin is a devouring proteoglycan: Remodeling of intracellular catabolism via autophagy and mitophagy","volume":"75\u201376","author":"Buraschi","year":"2019","journal-title":"Matrix Biol."},{"key":"ref_250","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ebiom.2016.12.011","article-title":"Muscle weakness and fibrosis due to cell autonomous and non-cell autonomous events in Collagen VI deficient congenital muscular dystrophy","volume":"15","author":"Noguchi","year":"2017","journal-title":"EBioMedicine"},{"key":"ref_251","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1038\/nm.2247","article-title":"Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration","volume":"16","author":"Grumati","year":"2010","journal-title":"Nat. Med."},{"key":"ref_252","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1073\/pnas.0610270104","article-title":"Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins","volume":"104","author":"Angelin","year":"2007","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_253","doi-asserted-by":"crossref","first-page":"219","DOI":"10.3892\/etm.2020.8716","article-title":"Comparison of rapamycin and methylprednisolone for treating inflammatory muscle disease in a murine model of experimental autoimmune myositis","volume":"20","author":"Kang","year":"2020","journal-title":"Exp. Ther. Med."}],"container-title":["Biomolecules"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2218-273X\/13\/10\/1536\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T21:08:35Z","timestamp":1760130515000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2218-273X\/13\/10\/1536"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10,17]]},"references-count":253,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2023,10]]}},"alternative-id":["biom13101536"],"URL":"https:\/\/doi.org\/10.3390\/biom13101536","relation":{},"ISSN":["2218-273X"],"issn-type":[{"value":"2218-273X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,10,17]]}}}