{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,20]],"date-time":"2026-01-20T14:02:03Z","timestamp":1768917723635,"version":"3.49.0"},"reference-count":50,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T00:00:00Z","timestamp":1583452800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100007393","name":"Association Fran\u00e7aise contre les Myopathies","doi-asserted-by":"publisher","award":["18620"],"award-info":[{"award-number":["18620"]}],"id":[{"id":"10.13039\/100007393","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GEP12058"],"award-info":[{"award-number":["GEP12058"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP15140"],"award-info":[{"award-number":["GGP15140"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005202","name":"Muscular Dystrophy Association","doi-asserted-by":"publisher","award":["577888"],"award-info":[{"award-number":["577888"]}],"id":[{"id":"10.13039\/100005202","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Sarcoglycanopathies are rare limb girdle muscular dystrophies, still incurable, even though symptomatic treatments may slow down the disease progression. Most of the disease-causing defects are missense mutations leading to a folding defective protein, promptly removed by the cell\u2019s quality control, even if possibly functional. Recently, we repurposed small molecules screened for cystic fibrosis as potential therapeutics in sarcoglycanopathy. Indeed, cystic fibrosis transmembrane regulator (CFTR) correctors successfully recovered the defective sarcoglycan-complex in vitro. Our aim was to test the combined administration of some CFTR correctors with C17, the most effective on sarcoglycans identified so far, and evaluate the stability of the rescued sarcoglycan-complex. We treated differentiated myogenic cells from both sarcoglycanopathy and healthy donors, evaluating the global rescue and the sarcolemma localization of the mutated protein, by biotinylation assays and western blot analyses. We observed the additive\/synergistic action of some compounds, gathering the first ideas on possible mechanism\/s of action. Our data also suggest that a defective \u03b1-sarcoglycan is competent for assembly into the complex that, if helped in cell traffic, can successfully reach the sarcolemma. In conclusion, our results strengthen the idea that CFTR correctors, acting probably as proteostasis modulators, have the potential to progress as therapeutics for sarcoglycanopathies caused by missense mutations.<\/jats:p>","DOI":"10.3390\/ijms21051813","type":"journal-article","created":{"date-parts":[[2020,3,6]],"date-time":"2020-03-06T09:26:41Z","timestamp":1583486801000},"page":"1813","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery"],"prefix":"10.3390","volume":"21","author":[{"given":"Marcello","family":"Carotti","sequence":"first","affiliation":[{"name":"Department of Biomedical Sciences, University of Padova, Via U. Bassi 58\/b 35131 Padova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8761-1730","authenticated-orcid":false,"given":"Martina","family":"Scano","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Padova, Via U. Bassi 58\/b 35131 Padova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7674-5533","authenticated-orcid":false,"given":"Irene","family":"Fancello","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Padova, Via U. Bassi 58\/b 35131 Padova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Richard","sequence":"additional","affiliation":[{"name":"G\u00e9n\u00e9thon INSERM, U951, INTEGRARE Research Unit, Univ Evry, Universit\u00e9 Paris-Saclay, 91002 Evry, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Risato","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Padova, Via U. Bassi 58\/b 35131 Padova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mona","family":"Bensalah","sequence":"additional","affiliation":[{"name":"INSERM, Institut de Myologie, U974, Center for Research in Myology, Sorbonne Universit\u00e9, 75013 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michela","family":"Soardi","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Padova, Via U. Bassi 58\/b 35131 Padova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9908-2442","authenticated-orcid":false,"given":"Dorianna","family":"Sandon\u00e0","sequence":"additional","affiliation":[{"name":"Department of Biomedical Sciences, University of Padova, Via U. Bassi 58\/b 35131 Padova, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,3,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1016\/j.nmd.2018.05.007","article-title":"Group lws: 229th ENMC international workshop: Limb girdle muscular dystrophies\u2014Nomenclature and reformed classification Naarden, the Netherlands, 17\u201319 March 2017","volume":"28","author":"Straub","year":"2018","journal-title":"Neuromuscul. 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