Article
Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery.
International journal of molecular sciences - 6 Mar 2020
Carotti Marcello, Scano Martina, Fancello Irene, Richard Isabelle, Risato Giovanni, Bensalah Mona, Soardi Michela, Sandonà Dorianna
Abstract excerpt
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...
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