Inhibitors | Comment | Organism | Structure |
---|---|---|---|
Genz-682452 | a mall molecule inhibitor of enzyme GCS, that can traverse the bloodbrain barrier. Treating Fabry mice with Genz-682452 results in reduced tissue levels of including globotriaosylceramide and lysoglobotriaosylceramide and a delayed loss of the thermal nociceptive response. Greatest improvements are realized when the therapeutic intervention is administered to younger mice before they developed overt pathology | Mus musculus |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Mus musculus | O88693 | - |
- |
Mus musculus 129SvEv | O88693 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Mus musculus | - |
heart | - |
Mus musculus | - |
kidney | - |
Mus musculus | - |
liver | - |
Mus musculus | - |
lung | - |
Mus musculus | - |
spleen | - |
Mus musculus | - |
Synonyms | Comment | Organism |
---|---|---|
GCS | - |
Mus musculus |
glucosylceramide synthase | - |
Mus musculus |
General Information | Comment | Organism |
---|---|---|
malfunction | substrate reduction therapy by selectively inhibiting glucosylceramide synthase is used in treatment of Fabry disease, an X-linked inherited glycosphingolipid storage disorder, that is caused by the deficient activity of alpha-galactosidase A, which results in the lysosomal accumulation in various cell types of its glycolipid substrates, including globotriaosylceramide and lysoglobotriaosylceramide (globotriaosyl lysosphingolipid), leading to kidney, heart, and cerebrovascular disease. Kidneys of both Fabry and wild-type mice treated with enzyme inhibitor GCS Genz-682452 show reductions of galactosylceramide (about 85%) and digalactosylceramide (about 60%), a combination therapy with Genz-682452 and alpha-galactosidase A is more efficacious than either therapy alone at reducing glycosphingolipid levels in Fabry mice, phenotype, overview | Mus musculus |