Article
Glucocerebrosidase is shaking up the synucleinopathies.
Brain : a journal of neurology - 1 May 2014
Siebert Marina, Sidransky Ellen, Westbroek Wendy
Abstract excerpt
The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in the breakdown of glucocerebroside into glucose and ceramide. Lysosomal build-up of the substrate glucocerebroside occurs in cells of the reticulo-endothelial system in patients with Gaucher disease, a rare lysosomal storage disorder caused by the recessively inherited deficiency of glucocerebrosidase. Gaucher disease...
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