Studies of bioactive lipids in general and sphingolipids in particular have intensified over the
past several years, revealing an unprecedented and unanticipated complexity of the …

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

Lysosomes are the primary catabolic compartments of eukaryotic cells. They degrade
extracellular material that has been internalized by endocytosis and intracellular …

Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are
among the most common known genetic risk factors for the development of Parkinson …

Gaucher disease (GD) is an autosomal recessive disorder caused by the deficiency of
glucocerebrosidase, a lysosomal enzyme that catalyses the hydrolysis of the glycolipid …

Lysosomal storage disorders, of which more than 40 are known, are caused by the defective
activity of lysosomal proteins, which results in the intra-lysosomal accumulation of …

Parkinson disease (PD) is the second most common neurodegenerative disorder after
Alzheimer disease, whereas Gaucher disease (GD) is the most frequent lysosomal storage …

Abstract β-Glucosidases (3.2. 1.21) are found in all domains of living organisms, where they
play essential roles in the removal of nonreducing terminal glucosyl residues from …

Gaucher's disease, a lysosomal storage disorder caused by mutations in the gene encoding
glucocerebrosidase (GCD), is currently treated by enzyme replacement therapy using …

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 …