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Content Provider | Springer Nature Link |
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Author | Sawkar, A. R. D’Haeze, W. Kelly, J. W. |
Copyright Year | 2006 |
Abstract | The lysosomal storage disorders encompass more than 40 distinct diseases, most of which are caused by the deficient activity of a lysosomal hydrolase leading to the progressive, intralysosomal accumulation of substrates such as sphingolipids, mucopolysaccharides, and oligosaccharides. Here, we primarily focus on Gaucher disease, one of the most prevalent lysosomal storage disorders, which is caused by an impaired activity of glucocerebrosidase, resulting in the accumulation of the glycosphingolipid glucosylceramide in the lysosomes. Enzyme replacement and substrate reduction therapies have proven effective for Gaucher disease cases without central nervous system involvement. We discuss the promise of chemical chaperone therapy to complement established therapeutic strategies for Gaucher disease. Chemical chaperones are small molecules that bind to the active site of glucocerebrosidase variants stabilizing their threedimensional structure in the endoplasmic reticulum, likely preventing their endoplasmic reticulum-associated degradation and allowing their proper trafficking to the lysosome where they can degrade accumulated substrate to effectively ameliorate Gaucher disease. |
Starting Page | 1179 |
Ending Page | 1192 |
Page Count | 14 |
File Format | |
ISSN | 1420682X |
Journal | Cellular and Molecular Life Sciences |
Volume Number | 63 |
Issue Number | 10 |
e-ISSN | 14209071 |
Language | English |
Publisher | Birkhäuser-Verlag |
Publisher Date | 2006-03-29 |
Publisher Place | Basel |
Access Restriction | Subscribed |
Subject Keyword | Chemical chaperone therapy enzyme replacement therapy gene therapy glucosylceramide glucocerebrosidase lysosomal hydrolase protein folding substrate reduction therapy Life Sciences Biomedicine general Biochemistry Cell Biology |
Content Type | Text |
Resource Type | Article |
Subject | Cell Biology Molecular Biology Molecular Medicine Pharmacology Cellular and Molecular Neuroscience |
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