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Literature summary for 3.2.1.45 extracted from

  • Salvioli, R.; Scarpa, S.; Ciaffoni, F.; Tatti, M.; Ramoni, C.; Vanier, M.T.; Vaccaro, A.M.
    Glucosylceramidase mass and subcellular localization are modulated by cholesterol in Niemann-Pick disease type C (2004), J. Biol. Chem., 279, 17674-17680.
    View publication on PubMed

Application

Application Comment Organism
medicine in fibroblasts of patients with Niemann-Pick disease type C, the cholesterol storage affects the stability of enzyme, decreasing its mass and activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
Homo sapiens
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
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the difference in activity between the control and the mutated cells correlates well with difference in the enzyme mass Homo sapiens
0.075 0.1 enzyme in cell lines from two patients with Niemann-Pick disease type C Homo sapiens
0.4
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enzyme in normal fibroblasts Homo sapiens