Neuronal forms of Gaucher disease.

Abstract excerpt

Gaucher disease is an inherited metabolic disease caused by the defective activity of the lysosomal enzyme, glucosylceramidase (GlcCerase), which is responsible for the last step in the degradation of complex glycosphingolipids. As a result, glucosylceramide (GlcCer) accumulates intracellularly. Little is known about the mechanisms by which GlcCer accumulation leads to Gaucher disease, particularly for the types...

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