Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease
KM Ashe, KM Taylor, Q Chu, E Meyers, A Ellis… - Molecular genetics and …, 2010 - Elsevier
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by
deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation
causes a spectrum of disease severity ranging from a rapidly progressive course that is
typically fatal by 1–2years of age to a more slowly progressive course that causes significant
morbidity and early mortality in children and adults. Recombinant human GAA (rhGAA)
improves clinical outcomes with variable results. Adjunct therapy that increases the …
deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation
causes a spectrum of disease severity ranging from a rapidly progressive course that is
typically fatal by 1–2years of age to a more slowly progressive course that causes significant
morbidity and early mortality in children and adults. Recombinant human GAA (rhGAA)
improves clinical outcomes with variable results. Adjunct therapy that increases the …