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Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its potential implications for Parkinson disease
Gaucher disease, caused by pathological mutations GBA1, encodes the lysosome-resident enzyme glucocerebrosidase, which cleaves glucosylceramide into glucose and ceramide. In Gaucher disease, glucocerebrosidase deficiency leads to lysosomal accumulation of substrate, primarily in cells of the reticul...
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| Vydáno v: | Expert Rev Proteomics |
|---|---|
| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2016
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5381920/ https://ncbi.nlm.nih.gov/pubmed/27098312 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/14789450.2016.1174583 |
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