Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Richard Proia
PROVIDER: E-GEOD-25756 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Molecular genetics and metabolism 20041201 4
Gaucher disease is a member of a family of inherited disorders called sphingolipidoses that among others includes Tay-Sachs and Sandhoff diseases. It is caused by the accumulation of glucosylceramide (glucocerebroside) due to deficient activity of the enzyme glucosylceramide-beta-glucosidase (glucocerebrosidase). As with other glycosphingolipidoses, severe neurodegeneration is present in types 2 and 3 Gaucher disease. We have used Serial Analysis of Gene Expression (SAGE) to characterize the gen ...[more]