Autophagy in GNE Myopathy

Abstract

A review. This article discusses the general knowledge and classification on AVMs and overview the mol. processes underlying autophagic vacuoles formation in rimmed vacuolar myopathies on the basis of exptl. evidences regarding GNE myopathy. A Gne knock out mouse expressing human GNE D176V mutation were discussed. Future issue include prophylactic treatment with sialic acid metabolites in the GNE myopathy model mice, hypothesized pathway from hyposialylation to rimmed vacuoles formation and the common mol. processes underlying autophagic vacuoles formation in rimmed vacuolar myopathies were discussed.