Topic: GCase activity

Gaucher’s disease (GD) is a genetic disorder characterized by loss of glucocerebrosidase activity in cells resulting in accumulation of glucocerebroside. Mutation of GBA1, which encodes the lysosomal glucocerebrosidase (GCase) in human, will lead to GD whose symptoms include deficits in liver function, skeletal disorders, and in some cases severe neurological complications. Recent human genome sequencing studies have demonstrated that genetic variations in GBA1 constitute the largest known risk factor for Parkinson’s disease. To better understand the functional consequence of glucocerebrosidas