Key result
Proteasome or mannosidase I inhibitors pharmacologically rescued the human R77C alpha-sarcoglycan protein from endoplasmic reticulum-retention in the muscle of Sgca-null mice.
Proteasome or mannosidase I inhibitors can rescue the trafficking of the mutant alpha-sarcoglycan R77C protein, offering a potential therapeutic strategy for Limb girdle muscular dystrophy type 2D.
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Suggests trafficking rescue as a therapeutic strategy for LGMD2D; leaves open translation from mouse models to patients.
Bartoli et al. (2008) studied Limb girdle muscular dystrophy type 2D (LGMD2D). Proteasome or mannosidase I inhibitors was evaluated on Rescue of R77C protein from endoplasmic reticulum-retention. Proteasome or mannosidase I inhibitors pharmacologically rescued the human R77C alpha-sarcoglycan protein from endoplasmic reticulum-retention in the muscle of Sgca-null mice.
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