Article
Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts.
Journal of receptor and signal transduction research - 1 Jan 2015
Harazi Avi, Chaouat Malka, Shlomai Zippora, Levitzki Robina, Becker-Cohen Michal, Sadeh Menachem, Dabby Ron, Ben-Bassat Hannah, Mitrani-Rosenbaum Stella
Abstract excerpt
GNE Myopathy (GNEM) is a neuromuscular disorder caused by mutations in the GNE gene. It is a slowly progressive distal and proximal muscle weakness sparing the quadriceps. In this study, we applied our model of mutated M743T GNE enzyme skeletal muscle-cultured myoblasts and paired healthy control...
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