Search Results - "Soardi, Michela"
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Modeling Sarcoglycanopathy in Danio rerio
Published in International journal of molecular sciences (11-08-2023)“…Sarcoglycanopathies, also known as limb girdle muscular dystrophy 3-6, are rare muscular dystrophies characterized, although heterogeneous, by high disability,…”
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Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery
Published in International journal of molecular sciences (06-03-2020)“…Sarcoglycanopathies are rare limb girdle muscular dystrophies, still incurable, even though symptomatic treatments may slow down the disease progression. Most…”
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CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3
Published in Human molecular genetics (21-02-2022)“…Abstract Limb-girdle muscular dystrophy R3 (LGMDR3) is caused by mutations in the SGCA gene coding for α-sarcoglycan (SG). Together with β- γ- and δ-SG, α-SG…”
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Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D
Published in Human molecular genetics (15-03-2018)“…Abstract Limb-girdle muscular dystrophy type 2D (LGMD2D) is a rare autosomal-recessive disease, affecting striated muscle, due to mutation of SGCA, the gene…”
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Modeling Sarcoglycanopathy in IDanio rerio/I
Published in International journal of molecular sciences (01-08-2023)“…Sarcoglycanopathies, also known as limb girdle muscular dystrophy 3-6, are rare muscular dystrophies characterized, although heterogeneous, by high disability,…”
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Journal Article