Atherogenic risk factors in cerebrotendinous xanthomatosis
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Cited by (58)
Modulation of 11β-hydroxysteroid dehydrogenase functions by the cloud of endogenous metabolites in a local microenvironment: The glycyrrhetinic acid-like factor (GALF) hypothesis
2021, Journal of Steroid Biochemistry and Molecular BiologyCitation Excerpt :In this respect, both oxysterols are efficiently metabolized by CYP27A1 in the liver to their 27-hydroxylated metabolites and further to the corresponding cholestenoic acids [104,113]. The relevance of CYP27A1 for 7kC metabolism is seen in Cerebrotendinous xanthomatosis patients who show accumulation of this oxysterol [103,106]. Importantly, two recent studies showed that the 25-hydroxylated as well as 27-hydroxylated metabolites of 7kC and 7βOHC are potent inhibitors of 11β-HSD1 oxoreductase and dehydrogenase, respectively, and that these compounds also belong to the most potent inhibitors of human 11β-HSD2 described so far [33,34] (Fig. 4).
Lysosomal Storage Disorders
2020, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic DisordersCerebrotendinous xanthomatosis
2020, Rosenberg’s Molecular and Genetic Basis of Neurological and Psychiatric Disease: Volume 1Investigating the association between familial hypercholesterolemia and perceived depression
2019, Atherosclerosis SupplementsCitation Excerpt :These associations bear out the trend that patients with inherited diseases such as FH are at risk of developing depression and premature CHD. The potential influences of inherited metabolic diseases such as a diagnosis of FH and the subsequent sequelae of sudden cardiac-related death should be identified [1,27]. Subclinical progression of atherosclerosis becomes an unavoidable factor related to coronary risk if FH patients if untreated [28].
11β-Hydroxysteroid dehydrogenases control access of 7β,27-dihydroxycholesterol to retinoid-related orphan receptor γ
2019, Journal of Lipid ResearchOxysterol generation and liver X receptor-dependent reverse cholesterol transport: Not all roads lead to Rome
2013, Molecular and Cellular EndocrinologyCitation Excerpt :Although cholestanol is a major contributor to the xanthomatosis observed in CTX, a postmortem investigation of CTX patients reported that cholestanol contributed only 2.8% of total sterols in atherosclerotic plaques, versus 97.2% by cholesterol, suggesting cholestanol is not a major contributor to the development of premature atheroma in CTX (Salen, 1971). CTX patients treated with chenodeoxycholic acid show reduction in xanthomas and neurologic complications (Berginer et al., 1984; Wolthers et al., 1990); however, this treatment did not correct the pro-atherogenic lipid profile including increased plasma total cholesterol, LDL-C, triglycerides, and low HDL-C (Fujiyama et al., 1991). CTX cells show downregulation of HMG-CoA reductase and stimulation of cholesterol esterification in response to LDL loading (Tint and Salen, 1982), indicating normal delivery of LDL-derived cholesterol to the ER.
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Present address: Department of Clinical Medicine, National Institute for Minamata Disease, Kumamoto, Japan.