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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Hauptverfasser: Tropak, Michael B., Blanchard, Jan, Withers, Stephen G., Brown, Eric, Mahuran, Don
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2007
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Article
Online Zugang: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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