On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase [PDF]
Journal of Lipid Research, 2010 The rare disease cerebrotendinous xanthomatosis (CTX) is due to a lack of sterol 27-hydroxylase (CYP27A1) and is characterized by cholestanol-containing xanthomas in brain and tendons. Mice with the same defect do not develop xanthomas. The driving force
Eran Leitersdorf, Ingemar Björkhem
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Prospective cholestanol screening of cerebrotendinous xanthomatosis among patients with juvenile-onset unexplained bilateral cataracts [PDF]
Orphanet Journal of Rare Diseases, 2022 Background Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder related to CYP27A1 biallelic mutations, leading to decreased synthesis of bile acids and increased cholestanol. Juvenile bilateral cataracts are one of the most common findings in
Gorka Fernández-Eulate +10 more
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Ypsiyunnosides A–E, Five New Cholestanol Glycosides from Ypsilandra yunnanensis [PDF]
Natural Products and Bioprospecting, 2016 Phytochemical investigation on the whole plants of Ypsilandra yunnanensis was carried out for the first time and led to the isolation of five new cholestanol glycosides, ypsiyunnosides A-E (1-5), and one known analogue. Their structures were determined mainly by detailed spectroscopic analysis, including extensive 1D and 2D NMR, MS and UV, as well as ...
Xu-Jie Qin, Hai-Yang Liu
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Cholestanol accelerates α-synuclein aggregation and spreading by activating asparagine endopeptidase [PDF]
JCI Insight, 2023 Cerebrotendinous xanthomatosis (CTX), an autosomal recessive disorder characterized by high levels of cholestanol in the blood and accumulation of cholestanol in multiple tissues, especially the brain, often presents in parkinsonism.
Ting Yu +13 more
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On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis [PDF]
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 +3 more sources
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study [PDF]
Lipids in Health and Disease, 2019 Background Cerebrotendinous xanthomatosis (CTX) and Lathosterolosis represent two treatable inherited disorders of cholesterol metabolism that are characterized by the accumulation of cholestanol and lathosterol, respectively.
Monica Gelzo +7 more
doaj +3 more sources
Journal of Lipid Research, 2007 To study the metabolism of cholestanol in patients with cerebrotendinous xanthomatosis (CTX), we measured the cholestanol absorption, the cholesterol and cholestanol turnover, and the tissue content of sterols in two patients. Cholestanol absorption was ∼
Ashim K. Bhattacharyya +2 more
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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 +3 more sources
Achilles Tendon Xanthoma and Cholestanol Revealing Cerebrotendinous Xanthomatosis: A New Case Report [PDF]
Case Reports in Rheumatology, 2021 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive lipid storage disease rarely reported in Africa. Therefore, we report a Moroccan first case report of CTX.
Mohamed Ahmed Ghassem +6 more
openalex +2 more sources
Serum plant sterols, cholestanol, and cholesterol precursors associate with histological liver injury in pediatric onset intestinal failure [PDF]
American Journal of Clinical Nutrition, 2014 Annika Mutanen +2 more
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