Topic: GBA1

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

Background: Parkinson's disease (PD) is characterized by the formation of proteinaceous aggregates of α-synuclein (α-syn) in cell bodies and neurites of Substantia Nigra pars compacta (SNpc) dopaminergic neurons, eventually causing cell death. Interestingly, defective activity or mutations in GBA1, the gene encoding the lysosomal enzyme Glucocerebrosidase (GCase), are the strongest risk factor to develop PD. Based on this evidence, reverting the cytological and molecular abnormalities caused by GCase mutations or enhancing the activity of the wild type enzyme may represent a feasible therapeut