Publications by authors named "Kimberley C Zwiers"
In Gaucher disease (GD), the deficiency of glucocerebrosidase causes lysosomal accumulation of glucosylceramide (GlcCer), which is partly converted by acid ceramidase to glucosylsphingosine (GlcSph) in the lysosome. Chronically elevated blood and tissue GlcSph is thought to contribute to symptoms in GD patients as well as to increased risk for Parkinson's disease. On the other hand, formation of GlcSph may be beneficial since the water soluble sphingoid base is excreted via urine and bile.
View Article and Find Full Text PDFFabry disease (FD) is a lysosomal storage disorder (LSD) characterized by the deficiency of α-galactosidase A (α-GalA) and the consequent accumulation of toxic metabolites such as globotriaosylceramide (Gb3) and globotriaosylsphingosine (lysoGb3). Early diagnosis and appropriate timely treatment of FD patients are crucial to prevent tissue damage and organ failure which no treatment can reverse. LSDs might profit from four main therapeutic strategies, but hitherto there is no cure.
View Article and Find Full Text PDFArticle Synopsis
- Deficiency in the enzyme glucocerebrosidase (GBA) leads to Gaucher disease, which affects cholesterol metabolism and the breakdown of certain lipids.
- Research shows that recombinant human GBA can also cleave β-xylosides and transxylosylate cholesterol, producing a new compound, di-xylosyl-cholesterol (XylChol), which is reduced in patients with Gaucher disease.
- The study identifies xylosylated ceramide (XylCer) as a potential donor for the formation of XylChol, suggesting that food-derived β-D-xylosides and XylCer might play a role in lipid metabolism in cells.