The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which
maintains glycosphingolipid homeostasis. Approximately 5–15% of PD patients have …

The discovery of the glycosphingolipids is generally attributed to Johan LW Thudichum, who
in 1884 published on the chemical composition of the brain. In his studies he isolated …

Gaucher disease is caused by mutations in the glucocerebrosidase gene, which encodes
the lysosomal hydrolase glucosylceramidase. Patients with Gaucher disease and …

Gaucher's disease continues to be a model for applications of molecular medicine to clinical
delineation, diagnosis, and treatment. Analyses of several thousand affected individuals …

Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase,
leads to prominent glucosylceramide accumulation in lysosomes of tissue macrophages …

Deficiency of glucocerebrosidase (GBA) underlies Gaucher disease, a common lysosomal
storage disorder. Carriership for Gaucher disease has recently been identified as major risk …

Gaucher disease results from the inherited deficiency of the enzyme glucocerebrosidase
(EC 3.2. 1.45). Although> 100 mutations in the gene for human glucocerebrosidase have …

Gaucher disease, the most common lysosomal storage disorder, results from the inherited
deficiency of the enzyme glucocerebrosidase. Three clinical types are recognized: type 1 …

Gaucher disease is characterized by the accumulation of glucocerebroside, leading to
enlargement of the liver and spleen and lesions in the bones. It is caused by an inherited …

Gaucher disease was first described by Philippe Gaucher in his 1882 medical thesis.
Gaucher's original concept was of an unusual epithelioma of the spleen. By the early 1900s …