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

Hum Mol Genet . 2018 Mar 15;27(6):969-984. doi: 10.1093/hmg/ddy013.

Marcello Carotti 1, Justine Marsolier 2 3, Michela Soardi 1, Elisa Bianchini 1 4, Chiara Gomiero 5, Chiara Fecchio 1, Sara F Henriques 2 3, Romeo Betto 6, Roberta Sacchetto 5, Isabelle Richard 2 3, Dorianna Sandonà 1

Affiliations expand
PMID: 29351619 PMCID: PMC5886177 DOI: 10.1093/hmg/ddy013
Free PMC article

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Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.

Expert Rev Mol Med . 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203.

Sandonà D, Betto R.
Expert Rev Mol Med. 2009 Sep 28;11:e28. doi: 10.1017/S1462399409001203.
PMID: 19781108 Free PMC article. Review.

Sarcoglycanopathies are a group of autosomal recessive muscle-wasting disorders caused by genetic
defects in one of four cell membrane glycoproteins, alpha-, beta-, gamma- or delta-sarcoglycan. ...This
review summarises the etiopathogenesis of sarcoglycanopathies …

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