Article
Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation.
Human molecular genetics - 1 May 2008
Bartoli Marc, Gicquel Evelyne, Barrault Laetitia, Soheili Tayebeh, Malissen Marie, Malissen Bernard, Vincent-Lacaze Nathalie, Perez Norma, Udd Bjarne, Danos Olivier, Richard Isabelle
Abstract excerpt
Limb girdle muscular dystrophy type 2D (LGMD2D, OMIM600119) is a genetic progressive myopathy that is caused by mutations in the human alpha-sarcoglycan gene (SGCA). Here, we have introduced in mice the most prevalent LGMD2D mutation, R77C. It should be noted that the natural murine residue at this position is a histidine. The model is, therefore, referred as Sgca(H77C/H77C). Unexpectedly, we observed an absence...
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