Results 21 to 30 of about 9,389 (199)

Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis [PDF]

Human Genetics, 1997
We report a new mutation in the sterol 27-hydroxylase (CYP 27) gene in a Dutch family with cerebrotendinous xanthomatosis: a G-->A transition in the splice donor site in intron 4. This mutation leads to skipping of exon 4, resulting in a loss of 66 amino acids in the CYP 27 enzyme molecule.
Verrips, A., Steenbergen-Spanjers, G.C.H., Luyten, J.A.F.M., Wevers, R.A., Wokke, J.H.J., Gabreëls, F.J.M., Wolthers, B.G., Heuvel, L.P.W.J. van den   +7 more
openaire   +7 more sources

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

Biochemical Journal, 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.
Zufan, Araya, Wanjin, Tang, Kjell, Wikvall   +2 more
openaire   +3 more sources

Sterol 27-hydroxylase: high levels of activity in vascular endothelium.

Journal of Lipid Research, 1994
Sterol 27-hydroxylase activity in bovine aortic endothelial (BAE) cells in culture has been compared with that in HepG2 cells and in Chinese hamster ovary (CHO) cells using identical culture conditions. The total enzyme activity of BAE cells (3.0 nmol/72
A B Reiss, K O Martin, N B Javitt, D W Martin, E A Grossi, A C Galloway   +5 more
doaj   +3 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

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   +5 more sources

Cerebrotendinous xanthomatosis caused by two new mutations of the sterol-27-hydroxylase gene that disrupt mRNA splicing.

Journal of Lipid Research, 1996
Cerebrotendinous xanthomatosis (CTX) is an inherited sterol storage disease associated with the accumulation of cholestanol and cholesterol in various tissues.
R Garuti, N Lelli, M Barozzini, R Tiozzo, M T Dotti, A Federico, A M Ottomano, A Croce, S Bertolini, S Calandra   +9 more
doaj   +2 more sources

Studies on sterol 27-hydroxylase (CYP27A1)

, 2004
Human sterol 27-hydroxylase (CYP27A1) has been studied in the present thesis with focus on substrate specificity and possible role of the enzyme for prevention of accumulation of cholesterol and cholestanol in tissues. Attempts have been made to evaluate a metabolic pathway to bile acids in human primary hepatocytes that starts with a 27-hydroxylation ...
Sara von Bahr (19525159)
openaire   +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

On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase. [PDF]

J Lipid Res, 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 in the development of the xanthomas is likely to be conversion of a bile acid precursor into ...
Båvner A, Shafaati M, Hansson M, Olin M, Shpitzen S, Meiner V, Leitersdorf E, Björkhem I, Björkhem I.   +8 more
europepmc   +5 more sources

Sterol 27-Hydroxylase Polymorphism Significantly Associates With Shorter Telomere, Higher Cardiovascular and Type-2 Diabetes Risk in Obese Subjects. [PDF]

Front Endocrinol (Lausanne), 2018
Background/objectives: The pathologic relationship linking obesity and lipid dismetabolism with earlier onset of aging-related disorders, including cardiovascular disease (CVD) and type-2 diabetes (T2D), is not fully elucidate. Chronic inflammatory state,
Pavanello S, Angelici L, Hoxha M, Cantone L, Campisi M, Tirelli AS, Vigna L, Pesatori AC, Bollati V.   +8 more
europepmc   +3 more sources