Results 31 to 40 of about 2,254 (206)

High levels of plant sterols and cholesterol precursors in cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1991
We measured the cholestanol, cholesterol precursor (lathosterol), and plant sterol (campesterol and sitosterol) concentrations of serum and bile in 11 patients with cerebrotendinous xanthomatosis.
M Kuriyama, J Fujiyama, T Kasama, M Osame   +3 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, Andrea DeBarber, Kimiyo Raymond, Radhika Dhamija   +3 more
doaj   +1 more source

Effects of Diet-Induced Weight Loss on Plasma Markers for Cholesterol Absorption and Synthesis: Secondary Analysis of a Randomized Trial in Abdominally Obese Men

, 2022
Cross-sectional studies have shown that obesity is associated with lower intestinal cholesterol absorption and higher endogenous cholesterol synthesis.
Ronald P. Mensink, Coen D. A. Stehouwer, Sultan Mashnafi, Jogchum Plat, Sabine Baumgartner, Casper G. Schalkwijk, Yvo H. A. M. Kusters, Peter J. Joris, Alfons J. H. M. Houben   +8 more
core   +2 more sources

Successful Treatment of a Rare Cholesterol Homeostasis Disorder Due to CYP27A1 Gene Mutation with Chenodeoxycholic Acid Therapy

Biomedicines, 2023
Cerebrotendinous xanthomatosis (CTX) is a genetic disorder of the cholesterol metabolic pathway, most often associated with variants in the CYP27A1 gene.
Petar Brlek, Luka Bulić, David Glavaš Weinberger, Jelena Bošnjak, Tomislav Pavlović, Svetlana Tomić, Zdravka Krivdić Dupan, Igor Borić, Dragan Primorac   +8 more
doaj   +1 more source

Biosynthesis of cholesterol, lanosterol, and delta 7-cholestenol, but not cholestanol, in cultured fibroblasts from normal individuals and patients with cerebrotendinous xanthomatosis.

Journal of Lipid Research, 1982
The cholesterol and cholestanol biosynthetic pathways and the control of cholesterolgenesis were investigated in skin fibroblasts, from patients with cerebrotendinous xanthomatosis (CTX) and from normal subjects, growth in a lipoprotein deficient (d less
G S Tint, G Salen
doaj   +1 more source

Metabolism of coprostanol-C14 and cholestanol-4-C14 in man

Journal of Lipid Research, 1963
Coprostanol-C14, biosynthetically prepared, was administered orally to two patients, and cholestanol-4-C14 was administered to one of them 10 months later.
R.S. Rosenfeld, Barnett Zumoff, Leon Hellman   +2 more
doaj   +1 more source

Insulin sensitivity regulates cholesterol metabolism to a greater extent than obesity: lessons from the METSIM Study1

Journal of Lipid Research, 2010
Cholesterol synthesis is upregulated and absorption downregulated in insulin resistance and in type 2 dia-betes. We investigated whether alterations in cholesterol metabolism are observed across the glucose tolerance status, from normoglycemia through ...
Helena Gylling, Maarit Hallikainen, Jussi Pihlajamäki, Piia Simonen, Johanna Kuusisto, Markku Laakso, Tatu A. Miettinen   +6 more
doaj   +1 more source

Novel <i>ABCG5</i> and <i>ABCG8</i> Variants in Sitosterolemia: Insights Into Haemolysis, Calcium Dysregulation and Therapeutic Challenges. [PDF]

Hum Mutat
Sitosterolemia is a rare autosomal recessive lipid metabolic disorder caused by mutations in ABCG5 or ABCG8, leading to pathological accumulation of dietary plant sterols. The condition is clinically heterogeneous, presenting with xanthomas, premature atherosclerosis and haematological abnormalities such as stomatocytosis, haemolytic anaemia and ...
Warang P, Dongerdiye R, Dehadrai P, Kamble P, Samanpalliwar N, Madkaikar M, Shanmukhaiah C, Kedar PS.   +7 more
europepmc   +2 more sources

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, Abdul Haseeb Wani, Muiez Bashir, Tariq A Gojwari   +3 more
doaj   +1 more source

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