Gaucher disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of glucocerebrosidase. Accumulation of glucosylceramide, primarily in the lysosomes of cells of the reticuloendothelial system, leads to hepatosplenomegaly, anemia and skeletal lesions in type I disease, and neurologic manifestations in types II and III disease. We report herein the identificat...

Gaucher disease is a lysosomal storage disorder caused by the deficiency of the lysosomal hydrolase glucocerebrosidase (β-glucocerebrosidase or acid β-D-glucosidase, GBA, EC 3.2.1.45). The deficiency of GBA leads to the accumulation of glucosylceramide (glucocerebroside) in the lysosomes of cells in the monocyte/ macrophage system. In Gaucher disease, glycosphingolipid-engorged cells displace n...

Gaucher disease is caused by the defective activity of the lysosomal hydrolase, glucosylceramidase. Although the x-ray structure of wild type glucosylceramidase has been resolved, little is known about the structural features of any of the >200 mutations. Various treatments for Gaucher disease are available, including enzyme replacement and chaperone therapies. The latter involves binding of co...

Phillippe Charles Ernest Gaucher (1854-1918) described a case of the disease that bears his name in his 1882 thesis for the doctorate of medicine at Paris. His academic career continued in that city, and he rose through the ranks to professor of dermatology and syphilology, that appointment coming in 1902. The patient was a woman, and Gaucher remarks that she had neither ascites nor leukemia, j...

INTRODUCTION Gaucher cells (GCs), the lipid-laden storage macrophages, are the pathologic hallmark of Gaucher disease (GD). They are typically 20-100 μm in diameter with eccentrically placed nuclei and cytoplasm with characteristic crinkles and striations. A few previous observations have indicated that sometimes GD patients may display morphology of GCs which is different from this classical d...