Article

The molecular basis for Pompe disease revealed by the structure of human acid α-glucosidase

2017-11-01

Abstract excerpt

Pompe disease results from a defect in human acid α-glucosidase (GAA), a lysosomal enzyme that cleaves terminal α1-4 and α1-6 glucose from glycogen. In Pompe disease (also known as Glycogen Storage Disorder type II), the accumulation of undegraded glycogen in lysosomes leads to cellular dysfunction, primarily in muscle and heart tissues. Pompe disease is an active candidate of clinical research, with pharmacologic...

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Literature Corpus work: 66fdba47-3941-5b5e-9beb-315ca5fada9e
DOI: 10.1101/212837

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