Journal article

Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease

Maria Fuller, Tina Rozaklis, Melanie Lovejoy, Krystyna Zarrinkalam, John J Hopwood, Peter J Meikle

Molecular Genetics and Metabolism | ACADEMIC PRESS INC ELSEVIER SCIENCE | Published : 2008


Gaucher disease (GD) is an inborn error of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme beta-glucosidase leading to the accumulation of glucosylceramide (GC) in lysosomes of affected cells. In order to determine the effect of GC accumulation on intracellular lipid content in fibroblasts from patients with GD, we measured individual species of ceramide, di- and trihexosylceramide, sphingomyelin, phosphatidylcholine, phosphatidylinositol and phosphatidylglycerol using electrospray ionisation-tandem mass spectrometry. The different subspecies of each lipid class correlated with each other and were summed to give total lipid concentrations. In addition to GC, ..

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University of Melbourne Researchers