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Article

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

Molecular therapy : the journal of the American Society of Gene Therapy - 1 Mar 2007

Parenti Giancarlo, Zuppaldi Alfredo, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata Ida, Meroni Germana, Porto Caterina, Donaudy Francesca, Rossi Barbara, Rossi Massimiliano, Filocamo Mirella, Donati Alice, Bembi Bruno, Ballabio Andrea, Andria Generoso

Abstract excerpt

We investigated the use of pharmacological chaperones for the therapy of Pompe disease, a metabolic myopathy due to mutations of the gene encoding the lysosomal hydrolase alpha-glucosidase (GAA) and characterized by generalized glycogen storage in cardiac and skeletal muscle. We studied the effects of two imino sugars, deoxynojirimycin (DNJ) and N-butyldeoxynojirimycin (NB-DNJ), on residual GAA activity in...

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Identifiers

PMID: 17213836
DOI: 10.1038/sj.mt.6300074

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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