ArticleInternational journal of molecular sciences2020
Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery.
Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 15 citations in OpenAlex.
- Repairing the defective folding of alpha-sarcoglycan is needed to promote myogenic cell engraftment in 3D artificial muscle models of LGMDR3.Skeletal muscle · 2025Article
- CFTR corrector C17 rescues defective SERCA1 in bovine pseudomyotonia: a potential therapy for Brody myopathy.Human molecular genetics · 2025Article
- Zebrafish as a Model Organism for Research in Rare Genetic Neuromuscular Diseases.International journal of molecular sciences · 2025Review
- Sarcoglycanopathies: From clinical diagnosis to new promising therapies.Journal of neuromuscular diseases · 2025Review
- Review
- Efficacy of Cystic Fibrosis Transmembrane Regulator Corrector C17 in Beta-Sarcoglycanopathy-Assessment of Patient's Primary Myotubes.International journal of molecular sciences · 2024Article
- The double whammy of ER-retention and dominant-negative effects in numerous autosomal dominant diseases: significance in disease mechanisms and therapy.Journal of biomedical science · 2024Review
- Synthesis and Evaluation of Bithiazole Derivatives As Potential α-Sarcoglycan Correctors.ACS medicinal chemistry letters · 2023Article
- Splicing mutations in the CFTR gene as therapeutic targets.Gene therapy · 2022Review
- CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3.Human molecular genetics · 2022Article
- 4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.iScience · 2022Article
- A Journey with LGMD: From Protein Abnormalities to Patient Impact.The protein journal · 2021Review
- Partial Rescue of F508del-CFTR Stability and Trafficking Defects by Double Corrector Treatment.International journal of molecular sciences · 2021Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
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's 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 α-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.
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Registered trials
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