Autophagy is a catabolic process with an essential function in the maintenance of cellular
and tissue homeostasis. It is primarily recognised for its role in the degradation of …

The lysosome plays a pivotal role between catabolic and anabolic processes as the nexus
for signalling pathways responsive to a variety of factors, such as growth, nutrient …

Summary α-Synuclein (α-syn) aggregation is a key event in Parkinson's disease (PD).
Mutations in glycosphingolipid (GSL)-degrading glucocerebrosidase are risk factors for PD …

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 …

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 …

Background The mainstay of treatment for Gaucher's disease type 1 is alternate-week
infusion of enzyme replacement therapy (ERT). We investigated whether patients stable on …

Plasma and tumor caveolin-1 (Cav-1) are linked with disease progression in prostate
cancer. Here we report that metabolomic profiling of longitudinal plasmas from a prospective …

Type 1 (non neuronopathic) Gaucher disease was the first lysosomal storage disorder for
which an effective enzyme replacement therapy was developed and it has become a …

Importance Gaucher disease type 1 is characterized by hepatosplenomegaly, anemia,
thrombocytopenia, and skeletal disease. A safe, effective oral therapy is needed. Objective …

Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first
GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal …