Organism | UniProt | Comment | Textmining |
---|---|---|---|
Mus musculus | - |
- |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | mouse embryonic brain tissue (E18.5) is examined | Mus musculus | - |
Synonyms | Comment | Organism |
---|---|---|
sterol DELTA7-reductase | - |
Mus musculus |
General Information | Comment | Organism |
---|---|---|
malfunction | pathophysiological mechanisms underlying lathosterolosis neurological symptoms are studies using quantitative proteomics analysis of lathosterolosis mouse brain tissue of Dhcr7 mutant mice. Multiple biological pathways are affected including alterations in mevalonate metabolism, apoptosis, glycolysis, oxidative stress, protein biosynthesis, intracellular trafficking, and cytoskeleton. Increased expression of isoprenoid and cholesterol synthetic enzymes is shown, suggesting that although cholesterol synthesis is impaired in both Dhcr7 mutant mice the synthesis of nonsterol isoprenoids may be increased and thus contribute to lathosterolosis pathology | Mus musculus |