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Literature summary for 1.14.19.20 extracted from

  • Jiang, X.S.; Backlund, P.S.; Wassif, C.A.; Yergey, A.L.; Porter, F.D.
    Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency (2010), Mol. Cell. Proteomics, 9, 1461-1475.
    View publication on PubMedView publication on EuropePMC

Organism

Organism UniProt Comment Textmining
Mus musculus
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Source Tissue

Source Tissue Comment Organism Textmining
brain mouse embryonic brain tissue (E18.5) is examined Mus musculus
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Synonyms

Synonyms Comment Organism
sterol DELTA7-reductase
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Mus musculus

General Information

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