Results 11 to 20 of about 16,062 (239)

Elimination of cholesterol as cholestenoic acid in human lung by sterol 27-hydroxylase: evidence that most of this steroid in the circulation is of pulmonary origin [PDF]

Journal of Lipid Research, 1999
Human alveolar macrophages have exceptionally high capacity to convert cholesterol into 27-hydroxycholesterol and cholestenoic acid by the sterol 27-hydroxylase mechanism. It is shown here that the human lung has a higher content of 27-hydroxycholesterol
Amir Babiker, Olof Andersson, Dan Lindblom, Jan van der Linden, Björn Wiklund, Dieter Lütjohann, Ulf Diczfalusy, Ingemar Björkhem   +7 more
doaj   +2 more sources

Heterogeneous expression of cholesterol 7 alpha-hydroxylase and sterol 27-hydroxylase genes in the rat liver lobulus. [PDF]

Journal of Clinical Investigation, 1995
We investigated the lobular localization and molecular level of expression of cholesterol 7 alpha-hydroxylase and sterol 27-hydroxylase, two key enzymes in bile acid synthesis, in isolated periportal and pericentral hepatocytes and by in situ hybridization of rat liver.
Twisk, J., Hoekman, M.F.M., Mager, W.H., Moorman, A.F.M., Boer, P.A.J. de, Scheja, L., Princen, H.M.G., Gebhardt, R.   +7 more
openaire   +4 more sources

Beyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX [PDF]

Orphanet Journal of Rare Diseases
Background Cerebrotendinous xanthomatosis (CTX) is an inherited metabolic disorder caused by variants in CYP27A1 leading to loss of sterol-27-hydroxylase activity.
Monte A. Del Monte, Jennifer Hanson, Penelope E. Bonnen   +2 more
doaj   +2 more sources

Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy [PDF]

QJM, 1996
We examined the phenotypic characteristics, molecular genetics and optimal pharmacological treatment of cerebrotendinous xanthomatosis (CTX) in an English family with combined hyperlipidaemia. The proband presented in adulthood with classical clinical characteristics of CTX, a greater than tenfold elevation in plasma cholestanol and combined ...
G F, Watts, W D, Mitchell, J J, Bending, A, Reshef, E, Leitersdorf   +4 more
openaire   +3 more sources

Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.

Journal of Biological Chemistry, 1991
The sterol storage disorder cerebrotendinous xanthomatosis (CTX) is characterized by abnormal deposition of cholesterol and cholestanol in multiple tissues. Deposition in the central nervous system leads to neurological dysfunction marked by dementia, spinal cord paresis, and cerebellar ataxia.
J J, Cali, C L, Hsieh, U, Francke, D W, Russell   +3 more
openaire   +3 more sources

Hormonal regulation of the human sterol 27-hydroxylase gene CYP27A1. [PDF]

Biochem J, 2003
The mitochondrial sterol 27-hydroxylase (CYP27A1) is a multifunctional cytochrome P450 enzyme that catalyses important hydroxylations in the biosynthesis of bile acids and bioactivation of vitamin D3. Previous results [Babiker, Andersson, Lund, Xiu, Deeb, Reshef, Leitersdorf, Diczfalusy and Björkhem (1997) J. Biol. Chem.
Araya Z, Tang W, Wikvall K.
europepmc   +4 more sources

Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).

Journal of Lipid Research, 1994
Cerebrotendinous xanthomatosis (CTX) is a hereditary sterol storage disease associated with accumulation of cholesterol and cholestanol in various tissues, especially tendons and neural tissues.
K S Kim, S Kubota, M Kuriyama, J Fujiyama, I Björkhem, G Eggertsen, Y Seyama   +6 more
doaj   +2 more sources

Alternative pre-mRNA splicing of the sterol 27-hydroxylase gene (CYP 27) caused by a G to A mutation at the last nucleotide of exon 6 in a patient with cerebrotendinous xanthomatosis (CTX) [PDF]

Journal of Lipid Research, 1998
A recently identified G to A mutation at the last nucleotide of exon 6 of the sterol 27-hydroxylase gene (CYP 27) in a patient with cerebrotendinous xanthomatosis (CTX) was shown here to cause alternative pre-mRNA splicing of the gene.
Wengen Chen, Shunichiro Kubota, Yousuke Seyama   +2 more
doaj   +2 more sources

Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families

Journal of Lipid Research, 1997
The autosomal recessively inherited cholesterol metabolic disease, cerebrotendinous xanthomatosis (CTX), is caused by mutations in the sterol 27-hydroxylase gene. Three Japanese CTX patients from two unrelated families were studied genetically.
W Chen, S Kubota, K S Kim, J Cheng, M Kuriyama, G Eggertsen, I Björkhem, Y Seyama   +7 more
doaj   +2 more sources

Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis

Journal of Lipid Research, 1996
An Italian subject with cerebrotendinous xanthomatosis (CTX) was found to have a partial deletion of the gene encoding the enzyme sterol 27-hydroxylase (CYP27 gene).
R Garuti, N Lelli, M Barozzini, M T Dotti, A Federico, S Bertolini, S Calandra   +6 more
doaj   +2 more sources