Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy
N Raben, E Ralston, YH Chien, R Baum… - Molecular genetics and …, 2010 - Elsevier
Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-
glucosidase, the enzyme that degrades glycogen in the lysosomes. The disease manifests
as a fatal cardiomyopathy and skeletal muscle myopathy in infants; in milder late-onset
forms skeletal muscle is the major tissue affected. We have previously demonstrated that
autophagic inclusions in muscle are prominent in adult patients and the mouse model. In
this study we have evaluated the contribution of the autophagic pathology in infants before …
glucosidase, the enzyme that degrades glycogen in the lysosomes. The disease manifests
as a fatal cardiomyopathy and skeletal muscle myopathy in infants; in milder late-onset
forms skeletal muscle is the major tissue affected. We have previously demonstrated that
autophagic inclusions in muscle are prominent in adult patients and the mouse model. In
this study we have evaluated the contribution of the autophagic pathology in infants before …