Continuing the rare disease a day theme started yesterday with Hunter Syndrome, today the focus is on Gaucher disease (also called Gaucher’s disease). This is the most common autosomal recessive lysosomal storage disease. It is caused by mutations in the beta-glucocerebrosidase gene GBA1 and results in the build up of glucosylceramide in in the spleen, …
Tag Archive: gaucher disease
Jan
23
The Non-Drowsy Chaperone
Digging through the recent literature for lysosomal diseases, something caught my attention. I have a bit of an interest in following the progress in finding chaperones for diseases like Sanfilippo syndrome and others. Chaperones are primarily small molecules that may help a protein fold and stabilize it. I first became aware of this when I …
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