Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

GM1 gangliosidosis is an inherited neurodegenerative disorder caused by lysosomal β-galactosidase deficiency, resulting in the storage of GM1 and GA1, primarily in the central nervous system. This disease typically afflicts infants and young children and there is currently no effective therapy. Subs...

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Veröffentlicht in:	Molecular genetics and metabolism 2008-06, Vol.94 (2), p.204-211
Hauptverfasser:	Elliot-Smith, Elena, Speak, Anneliese O., Lloyd-Evans, Emyr, Smith, David A., Spoel, Aarnoud C. van der, Jeyakumar, Mylvaganam, Butters, Terry D., Dwek, Raymond A., d’Azzo, Alessandra, Platt, Frances M.
Format:	Artikel
Sprache:	eng
Schlagworte:	1-Deoxynojirimycin - administration & dosage 1-Deoxynojirimycin - analogs & derivatives 1-Deoxynojirimycin - therapeutic use Animals beta-Galactosidase - antagonists & inhibitors beta-Galactosidase - genetics beta-Galactosidase - metabolism Brain - drug effects Brain - immunology Brain - metabolism Disease Models, Animal Enzyme Inhibitors - administration & dosage Enzyme Inhibitors - therapeutic use Feces - chemistry GA1 Gangliosidosis, GM1 - drug therapy Gangliosidosis, GM1 - immunology Gangliosidosis, GM1 - metabolism Gangliosidosis, GM1 - physiopathology Glucosyltransferases - antagonists & inhibitors Glucosyltransferases - metabolism Glycosphingolipid Glycosphingolipids - antagonists & inhibitors Glycosphingolipids - metabolism GM1 GM1 gangliosidosis Humans Imino sugar Lysosomal storage disease Macrophage Activation - drug effects Mice Mice, Knockout Miglustat Motor Activity - drug effects N-Butyldeoxygalactonojirimycin N-Butyldeoxynojirimycin Protein Transport - drug effects Substrate reduction therapy
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