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

The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic
risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within …

Objective The objective of this work was to investigate survival, dementia, and genotype‐
phenotype correlations in patients with Parkinson's disease (PD) with and without mutations …

The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase), which is
involved in sphingolipid metabolism. Biallelic variants in GBA1 cause Gaucher disease …

Glucocerebrosidase is a lysosomal enzyme. The characterization of a direct link between
mutations in the gene coding for glucocerebrosidase (GBA1) with the development of …

α-Synucleinopathies comprise a group of neurodegenerative diseases characterized by
altered accumulation of a protein called α-synuclein inside neurons and glial cells. This …

Acid β-glucosidase (GCase) is a 497-amino acid, membrane-associated lysosomal exo-β-
glucosidase whose defective activity leads to the Gaucher disease phenotypes. To move …

Gaucher disease, the most common lysosomal storage disorder, is caused by mutations in
the gene encoding the acid-β-glucosidase lysosomal hydrolase enzyme that cleaves …

Variants in the GBA1 and LRRK2 genes are the most common genetic risk factors
associated with Parkinson disease (PD). Both genes are associated with lysosomal and …

Gaucher disease (GD) is a disorder of glycosphinglipid metabolism caused by deficiency of
lysosomal acid β-glucosidase (GC), resulting in progressive deposition of glucosylceramide …