In the last years, much progress has been achieved in the field of lysosomal storage
disorders. In the past, no specific treatment was available for the affected patients; …

Sphingolipids are polar membrane lipids present as minor components in eukaryotic cell
membranes. Sphingolipids are highly enriched in nervous cells, where they exert important …

Gaucher disease is caused by mutations in the gene that encodes the lysosomal enzyme
acid β‐glucosidase (GCase). We have shown previously that the small molecule …

Abstract Eliglustat tartrate (Genz-112638), a specific inhibitor of glucosylceramide synthase,
is under development as an oral substrate reduction therapy for Gaucher disease type 1 …

Pathways of intracellular cholesterol trafficking are poorly understood at the molecular level.
Mutations in Niemann-Pick C (NPC) proteins, NPC1 and NPC2, however, have led to …

Gaucher disease is a rare inborn error of glycosphingolipid metabolism due to deficiency of
lysosomal acid β-glucocerebrosidase; the condition has totemic significance for the …

The lipophilic iminosugar N-[5-(adamantan-1-ylmethoxy) pentyl]-1-deoxynojirimycin (2, AMP-
DNM) potently controls hyperglycemia in obese rodent models of insulin resistance. The …

Type 1 Gaucher disease is currently categorized as non-neuronopathic, although recent
studies suggest peripheral neurological manifestations. We report prevalence and incidence …

Background Gaucher disease (GD), the most prevalent inherited lysosomal storage
disorder, is caused by deficient glucocerebrosidase activity. Type 1 GD (GD1), the most …

Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive
disorder caused by acid alpha-glucosidase (GAA) deficiency, leading to lysosomal glycogen …