Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

Article ID	Journal	Published Year	Pages	File Type
8344113	Molecular Genetics and Metabolism	2012	10 Pages	PDF

Abstract

âº We identify NN-DGJ as a pharmacological chaperone for human GM1 gangliosidosis. âº NN-DGJ enhances residual activity in cells with 3 out of 7 missense mutations tested. âº NN-DGJ acts as a pharmacological chaperone in cells from a feline model of GM1. âº This GM1 feline model is the first suitable for testing chaperone therapy in vivo.

Keywords

Small molecule therapy endoplasmic reticulum quality control β-d-galactosidase Lysosomal storage disease Large animal model

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy

Authors

Brigitte A. Rigat, Michael B. Tropak, Justin Buttner, Ellen Crushell, Daphne Benedict, John W. Callahan, Douglas R. Martin, Don J. Mahuran,