Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8344113 | Molecular Genetics and Metabolism | 2012 | 10 Pages |
Abstract
⺠We identify NN-DGJ as a pharmacological chaperone for human GM1 gangliosidosis. ⺠NN-DGJ enhances residual activity in cells with 3 out of 7 missense mutations tested. ⺠NN-DGJ acts as a pharmacological chaperone in cells from a feline model of GM1. ⺠This GM1 feline model is the first suitable for testing chaperone therapy in vivo.
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Authors
Brigitte A. Rigat, Michael B. Tropak, Justin Buttner, Ellen Crushell, Daphne Benedict, John W. Callahan, Douglas R. Martin, Don J. Mahuran,