Article
Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications.
Human mutation - 1 Feb 2012
Soheili Tayebeh, Gicquel Evelyne, Poupiot Jérôme, N'Guyen Luu, Le Roy Florence, Bartoli Marc, Richard Isabelle
Abstract excerpt
Sarcoglycanopathies (SGP) are a group of autosomal recessive muscle disorders caused by primary mutations in one of the four sarcoglycan genes. The sarcoglycans (α-, β-, γ-, and δ-sarcoglycan) form a tetrameric complex at the muscle membrane that is part of the dystrophin-glycoprotein complex and plays an essential role for membrane integrity during muscle contractions. We previously showed that the most frequent...
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