Application | Comment | Organism |
---|---|---|
medicine | although cholesterol synthesis is impaired in both Dhcr7-deficient and lathosterol 5-desaturase-deficient embryonic brain tissues, the synthesis of nonsterol isoprenoids may be increased and thus contribute to Smith-Lemli-Opitz syndrome and lathosterolosis pathology | Mus musculus |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Mus musculus | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | - |
Mus musculus | - |
General Information | Comment | Organism |
---|---|---|
physiological function | quantitative proteomics analysis of Smith-Lemli-Opitz syndrome and lathosterolosis mouse brain tissue shows that multiple biological pathways are affected affected in Dhcr7-deficient and lathosterol 5-desaturase-deficient E18.5 embryos. These include alterations in mevalonate metabolism, apoptosis, glycolysis, oxidative stress, protein biosynthesis, intracellular trafficking, and cytoskeleton. Deficiency leads to increased expression of isoprenoid and cholesterol synthetic enzymes, possibly due to the altered posttranslational modification of Rab7, a small GTPase | Mus musculus |