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HIGH-THROUGHPUT SCREENING FOR NOVEL HUMAN LYSOSOMAL BETA-N-ACETYL HEXOSAMINIDASE INHIBITORS ACTING AS PHARMACOLOGICAL CHAPERONES
The Adult forms of Tay-Sachs (ATSD) and Sandhoff (ASD) diseases result when the activity levels of human β-hexosaminidase A (Hex) fall below ~10% of normal, due to mutations that destabilize the native folded form of the enzyme in the endoplasmic reticulum (ER). The native fold not only conveys acti...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2007
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1989145/ https://ncbi.nlm.nih.gov/pubmed/17317569 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.chembiol.2006.12.006 |
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