7α-Hydroxylation of cholestanol by rat liver microsomes
Journal of Lipid Research, 1968 In a study of the mechanism whereby 5α-bile acids are formed from cholestanol, the 7α-hydroxylation of cholestanol was investigated in rat liver preparations in vitro.
Sarah Shefer +2 more
doaj +2 more sources
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous Xanthomatosis. [PDF]
J Inherit Metab DisABSTRACT Chenodeoxycholic acid (CDCA) is an essential drug for patients with rare metabolic disease cerebrotendinous xanthomatosis (CTX). To ensure continuation of treatment, the Amsterdam UMC hospital pharmacy developed pharmacy compounded CDCA capsules when the authorized CDCA capsules were no longer available for Dutch patients.
Bouwhuis N +9 more
europepmc +2 more sources
Information Theory Analysis of CTX Shows Consistent Clinical Presentation. [PDF]
J Inherit Metab DisABSTRACT Cerebrotendinous xanthomatosis (CTX) is a rare, metabolic disorder caused by pathogenic variants in CYP27A1. The classic clinical presentation includes infantile‐onset chronic diarrhea, juvenile‐onset bilateral cataracts, with development of tendon xanthomas and progressive neurological dysfunction.
Hanson J, Bonnen PE.
europepmc +2 more sources
Presenile Cataract: Consider Cholestanol [PDF]
Archives of Ophthalmology, 2006 Contains fulltext : 50065.pdf (Publisher’s version ) (Closed access)
Teszas, A. +6 more
openaire +5 more sources
Cultivar and Year-to-Year Variation of Phytosterol Content in Rye (Secale cereale L.) [PDF]
, 2004 Intake of phytosterols (and -stanols) has been shown to decrease the level of low-density lipoprotein cholesterol and thus protect against development of cardiovascular diseases.
Hansen, H.B. +3 more
core +1 more source
Journal of Lipid Research, 1994 We investigated the relationship between plasma cholestanol (5 alpha-dihydrocholesterol) concentrations and the activity and mRNA levels of cholesterol 7 alpha-hydroxylase, the rate-controlling enzyme for bile acid synthesis, in three female ...
G Salen +4 more
doaj +1 more source
Egy ritka, veleszületett neurodegeneratív betegség: a cerebrotendinosus xanthomatosis laboratóriumi diagnosztikája [PDF]
, 2014 Cerebrotendinous xanthomatosis is a rare neurodegenerative disease characterized by the accumulation of cholesterol and cholestanol in the brain and the tendons caused by mutations of the gene encoding sterol 27-hydroxylase (CYP27A1), which is involved ...
Balogh István +10 more
core +1 more source
Journal of Lipid Research, 2007 The most serious consequence of sterol 27-hydroxylase deficiency in humans [cerebrotendinous xanthomatosis (CTX)] is the development of cholestanol-containing brain xanthomas.
Panzenboeck Ute +5 more
doaj +1 more source
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings
JIMD Reports, 2021 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the CYP27A1 gene encoding the mitochondrial enzyme sterol 27‐hydroxylase.
Adam J. Guenzel +3 more
doaj +1 more source
Low-fat nondairy minidrink containing plant stanol ester effectively reduces LDL cholesterol in subjects with mild to moderate hypercholesterolemia as part of a Western diet [PDF]
, 2013 Peer ...
Gylling, Helena +2 more
core +2 more sources