BCL2 and GNE myopathy: In a HEK cell–based model of GNE myopathy, mitochondria-dependent apoptosis and IGF-1R phosphorylation were observed, and IGF-1R hyposialylation led to AKT phosphorylation and downregulation of the ERK pathway, which may rescue apoptotic cell death of GNE-deficient cell lines through Bcl-2 [114].