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CHEMICAL COMMUNICATIONS, ISSN 1359-7345, 2016, Volume 52, Issue 32, pp. 5497 - 5515
Lysosomal storage disorders (LSDs) are often caused by mutations that destabilize native folding and impair the trafficking of enzymes, leading to premature... 
IMINOSUGAR C-GLYCOSIDES | GM GANGLIOSIDOSIS | SUBSTRATE REDUCTION | CHEMICAL CHAPERONE | HUMAN ALPHA-GALACTOSIDASE | BIOLOGICAL EVALUATION | ACID-BETA-GLUCOSIDASE | GLUCOCEREBROSIDASE INHIBITORS | MOLECULAR-BASIS | CHEMISTRY, MULTIDISCIPLINARY | NEURODEGENERATIVE DISEASES
Journal Article
ANNALS OF NEUROLOGY, ISSN 0364-5134, 11/2016, Volume 80, Issue 5, pp. 766 - 775
ObjectiveGaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase. Both... 
CHAPERONES | THERAPEUTIC STRATEGY | PHOSPHORYLATION | PARKINSON DISEASE | ACID BETA-GLUCOSIDASE | ALPHA-SYNUCLEIN | DYSFUNCTION | IDENTIFICATION | CARRIERS | NEUROSCIENCES | CLINICAL NEUROLOGY | GAUCHER-DISEASE | Proteins | Mutation | Transgenic animals | Rodents | Parkinsons disease
Journal Article
LANCET, ISSN 0140-6736, 10/2008, Volume 372, Issue 9645, pp. 1263 - 1271
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 11/2016, Volume 80, Issue 5, pp. 766 - 775
Journal Article
Journal Article
BBA - Biomembranes, ISSN 0005-2736, 2006, Volume 1758, Issue 12, pp. 2057 - 2079
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2013, Volume 92, Issue 2, pp. 238 - 244
Journal Article
Journal Article
Chemical science, ISSN 2041-6520, 05/2015, Volume 6, Issue 5, pp. 3075 - 3086
Krabbe disease is a devastating neurodegenerative disorder characterized by rapid demyelination of nerve fibers. This disease is caused by defects in the... 
Journal Article
Chemical Science, ISSN 2041-6520, 05/2015, Volume 6, Issue 5, pp. 3075 - 3086
Krabbe disease is a devastating neurodegenerative disorder characterized by rapid demyelination of nerve fibers. This disease is caused by defects in the... 
IN-VIVO | LYSOSOMAL STORAGE DISEASES | ACID BETA-GLUCOSIDASE | MOLECULAR HETEROGENEITY | JAPANESE PATIENTS | ENZYME REPLACEMENT THERAPY | GALC GENE | CHEMISTRY, MULTIDISCIPLINARY | GLOBOID-CELL LEUKODYSTROPHY | ALPHA-GALACTOSIDASE | GAUCHER-DISEASE | Proteins | Therapy | Enzymes | Crystal defects | Myelin | Medical services | Lipids | Derivatives
Journal Article
The Journal of cell biology, ISSN 0021-9525, 2015, Volume 210, Issue 6, pp. 991 - 1002
Journal Article