Sortilin is a post-Golgi trafficking receptor homologous to the yeast vacuolar protein sorting
receptor 10 (VPS10). The VPS10 motif on sortilin is a 10-bladed β-propeller structure …

Gaucher disease (GD) and Fabry disease (FD) are two relatively common inherited
glycosphingolipidoses caused by deficiencies in the lysosomal glycosidases …

Fabry disease is an X-linked lysosomal storage disorder caused by loss of alpha-
galactosidase A (α-Gal A) activity and is characterized by progressive accumulation of …

Background Gaucher disease (GD) is a genetic disease caused by mutations in the GBA1
gene which result in reduced enzymatic activity of β-glucocerebrosidase (GCase). This study …

Enzyme replacement therapy (ERT) is an effective treatment for several lysosomal storage
disorders (LSDs). Intravenously infused enzymes are taken up by tissues through either the …

Lysosomal replacement enzymes are essential therapeutic options for rare congenital
lysosomal enzyme deficiencies, but enzymes in clinical use are only partially effective due to …

Understanding the mechanism by which sortilin affects LDL cholesterol will increase our
understanding of the regulation of lipoprotein metabolism and hepatic lipoprotein export and …

Dendritic cells (DCs) direct CD4+ T-cell differentiation into diverse helper (Th) subsets that
are required for protection against varied infections. However, the mechanisms used by DCs …

Background Fabry disease is a progressive multisystemic disease, which affects the kidney
and cardiovascular systems. Various treatments exist but decisions on how and when to …

Currently available enzyme replacement therapies for lysosomal storage diseases are
limited in their effectiveness due in part to short circulation times and suboptimal …