Tag Archive: gaucher disease


A rare disease a day: Gaucher Disease

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, …

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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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