Associated Papers
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
29061980 (PubMed )
Supplement: 41467_2017_1263_MOESM1_ESM.pdf
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ et al.
Human Mutation, 2009
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Sugawara K et al.
Journal of Human Genetics, 2009
A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn.
Kroos MA et al.
Neuromuscular Disorders : Nmd, 2004
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