Results 31 to 40 of about 3,678 (218)
Molecular Therapy: Methods & Clinical Development, 2021 Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by mutations in the CYP27A1 gene, encoding the sterol 27-hydroxylase. Disruption of the bile acid biosynthesis pathway and accumulation of toxic precursors such as cholestanol ...
Sara Lumbreras +12 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
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study
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 +1 more source
Neurología (English Edition), 2011 Introduction: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive disease caused by a deficiency of mitochondrial enzyme sterol 27-hydrolylase.
B. Pilo de la Fuente +8 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, 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
Microbial mat development and dolomite formation under pre-evaporitic conditions during the Atlantic in a temperate area: The Sarliève Lake (French Massif Central) [PDF]
, 2011 International audienceThe Sarliève marsh in the Limagne plain, in the heart of the French Massif Central, functioned as an endorheic lake during the Late Glacial and the Early and Middle Holocene.
Bréhéret, Jean-Gabriel +3 more
core +4 more sources
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies [PDF]
, 2014 Leukodystrophies (LD) and genetic leukoencephalopathies (gLE) are disorders that result in white matter abnormalities in the central nervous system (CNS).
Bernard, Geneviève +14 more
core +7 more sources
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 +2 more
doaj +1 more source
The microstratigraphy of middens: capturing daily routine in rubbish at Neolithic Çatalhöyük, Turkey [PDF]
, 2011 Microstratigraphy — the sequencing of detailed biological signals on site — is an important new approach being developed in the Çatalhöyük project. Here the authors show how microscopic recording of the strata and content of widespread middens on the ...
Almond, Matthew J. +3 more
core +1 more source