Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D

Limb-girdle muscular dystrophy type 2D (LGMD2D) is a rare autosomal-recessive disease, affecting striated muscle, due to mutation of SGCA, the gene coding for α-sarcoglycan. Nowadays, more than 50 different SGCA missense mutations have been reported. They are supposed to impact folding and trafficki...

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Vydáno v:Hum Mol Genet
Hlavní autoři: Carotti, Marcello, Marsolier, Justine, Soardi, Michela, Bianchini, Elisa, Gomiero, Chiara, Fecchio, Chiara, Henriques, Sara F, Betto, Romeo, Sacchetto, Roberta, Richard, Isabelle, Sandonà, Dorianna
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2018
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886177/
https://ncbi.nlm.nih.gov/pubmed/29351619
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy013
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