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Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement. We now identify a protein, glycoprotein non-...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-03-29 | MSV000080786 | MassIVE
Inhibition of the non-lysosomal glucosylceramidase GBA2 accounts for the efficacy of sinbaglustat in a murine model of Sandhoff disease
Sinbaglustat is a small molecule under investigation as a treatment for lysosomal storage disorders. It inhibits two enzymes involved in glycosphingolipid (GSL) metabolism, the non-lysosomal glucosylceramidase (GBA2) and, with a lower affinity, glucosylceramide synthase (GCS). High doses of structur...
ORGANISM(S): Mus musculus 
2026-02-18 | GSE289884 | GEO
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