Results 31 to 40 of about 1,835 (170)
Cerebrotendinous xanthomatosis - A case report
Indian Journal of Radiology and Imaging, 2019 Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder resulting from a defective enzyme in bile acid synthesis pathway leading to neurological, ocular, vascular, and musculoskeletal symptoms from deposition of cholestanol and ...
Arshed Hussain Parry +3 more
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Journal of Lipid Research, 2014 We examined serum cholesterol synthesis and absorption markers and their association with neonatal birth weight in obese pregnancies affected by gestational diabetes mellitus (GDM).
Helena E. Miettinen +7 more
doaj +1 more source
Frontiers in Genetics, 2022 Background: Cerebrotendinous xanthomatosis (CTX) is a rare lipid storage disease, caused by deficiency of sterol-27-hydroxylase. Xanthomatous lesions in numerous tissues, and an elevation of cholestanol levels, characterize the disease.
H. Cohen +5 more
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Synthesis of 24-heteroatom-substituted cholestanols
Journal of Lipid Research, 1988 Short syntheses of 24-thia-5 alpha,20 xi-cholestan-3 beta-ol, 24-methyl-24-aza-5 alpha,20 xi-cholestan-3 beta-ol, and 24-nor-5 alpha,20 xi-cholan-3 beta-ol from 3 beta-hydroxy-5 alpha-pregnan-20-one are described. The products and synthetic intermediates have been fully characterized by the results of proton NMR, infrared, and high and low resolution ...
M D Rahman, H M Seidel, R A Pascal, Jr
openaire +3 more sources
Inheritance of cholesterol metabolism of probands with high or low cholesterol absorption
Journal of Lipid Research, 2002 Heredity of cholesterol absorption and synthesis was studied in siblings of hypercholesterolemic probands with low and high serum cholestanol to cholesterol ratio (assumed to indicate low and high absorption of cholesterol, respectively).
Helena Gylling, Tatu A. Miettinen
doaj +1 more source
Journal of Lipid Research, 2004 Type 2 diabetes has been associated with high synthesis and low absorption of cholesterol independent of weight, indicating that insulin resistance may be a link between glucose and cholesterol metabolism.
Jussi Pihlajamäki +3 more
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On the Conversion of Cholestanol into Allocholic Acid in Rat Liver [PDF]
European Journal of Biochemistry, 1971 The early steps in the conversion of cholestanol into allocholic acid were studied in homogenates of rat liver. The 20000 ×g supernatant fluid was found to catalyze 7α‐hydroxylation of cholestanol. Under the same conditions 7α‐hydroxylation of 5α‐cholestan‐3α‐ol and 5α‐cholestan‐3‐one was insignificant.
I, Björkhem, J, Gustafsson
openaire +2 more sources
Journal of the American Oil Chemists' Society, EarlyView.ABSTRACT Saponification is a key step for recovering the unsaponifiable fraction (USF) of lipids, which contains bioactive sterols, tocopherols, and carotenoids. This study optimized direct saponification conditions (50–300 g L−1 KOH; 60°C–100°C) to recover sterol‐rich USFs from the microalga Isochrysis galbana and the brown seaweed Ascophyllum nodosum,
Mina Zareie, Suzanne M. Budge
wiley +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
Journal of Lipid Research, 2010 Moderately elevated levels of plasma plant sterols have been suspected to be causally involved in atherosclerosis. The aim of this study was to investigate whether plant sterols and other markers of sterol metabolism predicted all-cause and ...
Guenther Silbernagel +6 more
doaj +1 more source