Incorporation of glucocerebrosidase into Gaucher's disease monocytes in vitro.

Gaucher’s Disease, an Unusual Cause of Massive Splenomegaly, a Case Report

BACKGROUND Gaucher's Disease (G.D.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. This enzyme is encoded by a gene on chromosome-1. Here we report a case of Gaucher's Disease .G.D is rare in Yazd. CASE REPORTS We reported a patient that presented w...

Taliglucerase alfa for the treatment of Gaucher's disease.

Gaucher's disease is a rare inherited inborn error of metabolism caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase, GBA. Glucocerebrosidase is involved in the metabolism of the lipid metabolism-derived substrate, glucocerebroside. Accumulation of glucocerebroside substrate in macrophages, as a result of loss of enzyme function, leads to the formation of Gaucher ce...

Activators of spleen glucocerebrosidase from controls and patients with various forms of Gaucher's disease.

Glucocerebrosidase from normal human spleen, and spleen from cases of neurologic (types 2 and 3) and nonneurologic (type 1) Gaucher's disease, was delipidated and inactivated by extraction from membranes with sodium cholate and ice-cold 1-butanol. Control glucocerebrosidase was stimulated markedly by large quantities (20-30 micrograms/assay) of phosphatidylserine (PS), or by a combination of sm...

Enzyme replacement therapy in Gaucher's disease: a rapid, high-yield method for purification of glucocerebrosidase.

Gaucher's disease is caused by a deficiency of the lysosomal enzyme glucocerebrosidase (glucosylceramidase; D-glucosyl-N-acylsphingosine glucohydrolase, EC 3.2.1.45); this disorder has been a leading candidate for enzyme replacement trials. A rapid, high-yield method for purification of glucocerebrosidase has been developed. Detergent extraction of human placenta was followed by salt fractionat...

The glucocerebrosidase locus in Gaucher's disease: molecular analysis of a lysosomal enzyme.