Literature summary for 1.3.1.21 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.

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Application

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

Organism	UniProt	Comment	Textmining
Mus musculus	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
brain	-	Mus musculus	-

General Information

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

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Release 2023.1 (January 2023)