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Literature summary for 3.2.1.45 extracted from

  • Sun, Y.; Quinn, B.; Witte, D.P.; Grabowski, G.A.
    Gaucher disease mouse models: point mutations at the acid beta-glucosidase locus combined with low-level prosaposin expression lead to disease variants (2005), J. Lipid Res., 46, 2102-2113.
    View publication on PubMed

Activating Compound

Activating Compound Comment Organism Structure
saposin C optimal in vitro enzyme activity requires saposin C. Reduced saposin levels increase the instability of V394L or D409H GCases, the decreases leads to large accumulations of glucosylceramide in all tissues Mus musculus

Application

Application Comment Organism
medicine Gaucher disease mouse models Mus musculus

Protein Variants

Protein Variants Comment Organism
D409H homozygous, mice expressing low levels of prosaposin and saposins are backcrossed into mice with the point mutation D409H. In contrast to the mice with low levels of prosaposin and saposins the mutant mice with low levels of prosaposin and saposins display large numbers of engorged macrophages and nearly exclusive glucosylceramide accumulation in the liver, lung, spleen, thymus and brain Mus musculus
V394L homozygous, mice expressing low levels of prosaposin and saposins are backcrossed into mice with the point mutation V394L. In contrast to the mice with low levels of prosaposin and saposins the mutant mice with low levels of prosaposin and saposins display large numbers of engorged macrophages and nearly exclusive glucosylceramide accumulation in the liver, lung, spleen, thymus and brain Mus musculus

Inhibitors

Inhibitors Comment Organism Structure
conduritol B epoxide
-
Mus musculus

Organism

Organism UniProt Comment Textmining
Mus musculus
-
-
-

Synonyms

Synonyms Comment Organism
acid beta-glucosidase
-
Mus musculus
Gcase
-
Mus musculus