Results 111 to 120 of about 9,389 (199)

Biosynthesis of the regulatory oxysterol, 5-cholesten-3β,25-diol 3-sulfate, in hepatocytes

Journal of Lipid Research, 2007
Cellular cholesterol homeostasis is maintained through coordinated regulation of cholesterol synthesis, degradation, and secretion. Nuclear receptors for oxygenated cholesterol derivatives (oxysterols) are known to play key roles in the regulation of ...
Xiaobo Li, William M. Pandak, Sandra K. Erickson, Yongjie Ma, Lianhua Yin, Phillip Hylemon, Shunlin Ren   +6 more
doaj   +1 more source

Studies on sterol 27-hydroxylase (CYP27A1) [Elektronisk resurs]

, 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
Bahr, SV,
core  

Cerebrotendinous xanthomatosis-a case report with novel compound heterozygous mutation of CYP27A1 gene

Dermatologica Sinica, 2018
Cerebrotendinous xanthomatosis (CTX), a rare autosomal recessive lipid storage disorder which is caused by mutations in gene CYP27A1 leads to deficiency of enzyme sterol 27-hydroxylase.
Jeng Yuan, Pi-Shan Sung, Julia Yu-Yun Lee, Sheau-Chiou Chao   +3 more
doaj   +1 more source

Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene

, 1996
Cerebrotendinous xanthomatosis (CTX), an autosomal recessive lipid-storage hereditary disorder, is caused by mutations in the sterol 27-hydroxylase gene (CYP 27).
Seyama, Yousuke, Chen, WG, Nishimura, Y, Bjorkhem, I, Nozaki, Shuichi, Menju, Masakazu, Nakagawa, T, Nishimura, Yukiko, Björkhem, Ingemar, Menju, M, Chen, Wengen, Kubota, S, Eggertsen, Gösta, KamedaTakemura, K, Matsuzawa, Y, Nakagawa, Tsutomu, Matsuzawa, Yuji, Yamashita, S, Kameda-Takemura, Kaoru, Yamashita, Shizuya, Nozaki, S, Kubota, Shunichiro   +21 more
core   +1 more source

Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene

, 2006
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disease due to defective activity of the mitochondrial enzyme sterol 27-hydroxylase.
FEDERICO A., GALLUS G. N., DOTTI M.
core   +1 more source

Transcriptional regulation of human oxysterol 7alpha-hydroxylase by sterol response element binding protein

, 2004
Oxysterol 7alpha-hydroxylase (CYP7B1) metabolizes oxysterols, potent regulators of lipid homeostasis. Very little is known about transcriptional regulation of human CYP7B1. The present results indicate that sterol response element binding protein (SREBP),
Norlin, Maria,, Chiang, John Y. L.
core   +1 more source

Sterol 27-Hydroxylase– and ApoAI/Phospholipid–Mediated Efflux of Cholesterol From Cholesterol-Laden Macrophages

, 1998
—Cholesterol-laden, human monocyte–derived macrophages were found to contain 27-hydroxycholesterol in proportion to their content of cholesterol ester. In accordance with previous work with human lung alveolar macrophages, there was a significant efflux ...
Bengt Kallin, Jan Nilsson, Ingemar Björkhem, Westman, J, Ulf Diczfalusy, Kallin, B, Diczfalusy, U,, Jan Westman, Björkhem, I,, Nilsson, J   +9 more
core   +1 more source

Mutations in the sterol 27-hydoxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.

, 2002
Item does not contain fulltextFollow-up investigations were undertaken on a previously reported patient who had severe familial giant cell hepatitis in infancy associated with substantially increased urinary excretion of bile alcohol glucuronides. By the
Sistermans, E, R. Wevers, Wevers, R., G. Mieli‐Vergani, Clayton, P T, Mieli-Vergani, G, Wevers, R, A. Verrips, Clayton, P. T., Clayton, P.T., E. Sistermans, Verrips, A, P. T. Clayton, Sistermans, E.A., Sistermans, E., Mann, A., A. Mann, Verrips, A., Mieli-Vergani, G., Wevers, R.A., Mann, A   +20 more
core   +1 more source

Bile Acid Homeostasis in a Cholesterol 7α-Hydroxylase and Sterol 27-Hydroxylase Double Knockout Mouse Model. [PDF]

Hepatology, 2019
Rizzolo D, Buckley K, Kong B, Zhan L, Shen J, Stofan M, Brinker A, Goedken M, Buckley B, Guo GL.   +9 more
europepmc   +1 more source

Human Sterol 27-Hydroxylase (CYP27) Overexpressor Transgenic Mouse Model [PDF]

Journal of Biological Chemistry, 2002
Karen Meir, Daniel Kitsberg, Irit Alkalay, Fanny Szafer, Haim Rosen, Shoshanna Shpitzen, Liat Ben Avi, Bart Staels, Catherine Fievet, Vardiella Meiner, Ingemar Bjo¨rkhem, Eran Leitersdorf   +11 more
openaire   +1 more source