The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.

Flanagan, John J; Rossi, Barbara; Tang, Katherine; Wu, Xiaoyang; Mascioli, Kirsten; Donaudy, Francesca; Tuzzi, Maria Rosaria; Fontana, Federica; Cubellis, Maria Vittoria; Porto, Caterina; Benjamin, Elfrida; Lockhart, David J; Valenzano, Kenneth J; Andria, Generoso; Parenti, Giancarlo; Do, Hung V

Flanagan, John J; Rossi, Barbara; Tang, Katherine; Wu, Xiaoyang; Mascioli, Kirsten; Donaudy, Francesca; Tuzzi, Maria Rosaria; Fontana, Federica; Cubellis, Maria Vittoria; Porto, Caterina; Benjamin, Elfrida; Lockhart, David J; Valenzano, Kenneth J; Andria, Generoso; Parenti, Giancarlo; Do, Hung V.

Affiliation

Flanagan JJ; Amicus Therapeutics Inc., Cranbury, New Jersey 08512, USA.

Hum Mutat ; 30(12): 1683-92, 2009 Dec.

Article in En | MEDLINE | ID: mdl-19862843

Subject(s)

1-Deoxynojirimycin/pharmacology; Lysosomes/drug effects; Lysosomes/enzymology; Mutant Proteins/metabolism; alpha-Glucosidases/metabolism; Adolescent; Adult; Animals; COS Cells; Chlorocebus aethiops; Enzyme Stability/drug effects; Fibroblasts/drug effects; Fibroblasts/enzymology; Glycogen Storage Disease Type II/enzymology; Humans; Infant; Models, Molecular; Protein Structure, Secondary; Protein Transport/drug effects; Recombinant Proteins/metabolism; alpha-Glucosidases/chemistry

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: 1-Deoxynojirimycin / Mutant Proteins / Alpha-Glucosidases / Lysosomes Limits: Adolescent / Adult / Animals / Humans / Infant Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2009 Document type: Article Affiliation country: United States

Fulltext

Add to My VHL

XML

PubMed Links

Search on Google