Swetlana A Boldin-Adamsky

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Gaucher's disease, a lysosomal storage disorder caused by mutations in the gene encoding glucocerebrosidase (GCD), is currently treated by enzyme replacement therapy using recombinant GCD (Cerezyme) expressed in Chinese hamster ovary (CHO) cells. As complex glycans in mammalian cells do not terminate in mannose residues, which are essential for the(More)
Gaucher disease is an inherited metabolic disorder caused by mutations in the lysosomal enzyme acid-␤-glucosidase (GlcCerase). We recently determined the x-ray structure of GlcCerase to 2. 704 –709) and have now solved the structure of Glc-Cerase conjugated with an irreversible inhibitor, con-duritol-B-epoxide (CBE). The crystal structure reveals that(More)
In mammalian cells, glucosylceramide (GlcCer), the simplest glycosphingolipid, is hydrolyzed by the lysosomal enzyme acid beta-glucosidase (GlcCerase). In the human metabolic disorder Gaucher disease, GlcCerase activity is significantly decreased owing to one of approximately 200 mutations in the GlcCerase gene. The most common therapy for Gaucher disease(More)
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