… Enzyme replacement therapy (ERT) became a reality for patients with Pompe disease, a
fatal cardiomyopathy and skeletal muscle … lysosomal enzyme acid α-glucosidase (GAA). The …

… The only available therapy for Pompe disease is enzyme replacement therapy (… autophagic
gene, Atg7, is inactivated in skeletal muscle. Suppression of autophagy in skeletal muscle of …

… Citation28 The relatively mild negative effects of inactivation of autophagy that we observe
in normal skeletal muscle pale by comparison to the benefits this approach provides in …

… enzyme to clear skeletal muscle cells of glycogen? It is reasonable to assume that the
autophagic … We have demonstrated that the endocytosed therapeutic enzyme in the KO fibers …

… In patients with Pompe disease, the missing enzyme is delivered as a mannose-6-…
accumulation of autophagic vesicles in therapy-resistant Type II fibers, and only pockets of …

… autophagy—have become the foundation of our understanding of … of large pools of autophagic
debris in skeletal muscle and the … of using recombinant enzyme to treat skeletal muscle. …

… enzyme replacement therapy (ERT) for Pompe disease as well as other LSDs since the
recombinant enzymes … Our studies pointed to the role of glycogen autophagy in skeletal muscle …

… the pathogenesis of skeletal muscle damage in Pompe disease, … thought, and involves a
profound disturbance of autophagy. … of enzyme replacement therapy in Pompe disease have led …

… disorders, including Pompe disease, the genetic deficiency of the glycogen-degrading
lysosomal enzyme … suppression of autophagy is not an option for substrate deprivation therapy in …

… While more studies are needed to determine underlying causes of skeletal muscle
weakness in GSD II, our results suggests that exercise and rhGAA polytherapy may attenuate …