Results 31 to 40 of about 2,722,655 (194)

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   +1 more source

Multiplicity of 3-Ketosteroid-9α-Hydroxylase Enzymes in Rhodococcus rhodochrous DSM43269 for Specific Degradation of Different Classes of Steroids [PDF]

, 2011
The well-known large catabolic potential of rhodococci is greatly facilitated by an impressive gene multiplicity. This study reports on the multiplicity of kshA, encoding the oxygenase component of 3-ketosteroid 9α-hydroxylase, a key enzyme in steroid ...
Petrusma, Mirjan, Mirjan Petrusma, Hessels, Gerda,, Geize, Robert van der,, van der Geize, Robert, Dijkhuizen, Lubbert,, Dijkhuizen, Lubbert, Gerda Hessels, Robert van der Geize, Hessels, Gerda, Petrusma, Mirjan,, Dijkhuizen, Lubbert; id_orcid, Lubbert Dijkhuizen   +12 more
core   +4 more sources

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

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   +1 more source

On the substrate specificity of human CYP27A1

Journal of Lipid Research, 2003
The mitochondrial sterol 27-hydroxylase (CYP27A1) is required for degradation of the C27-sterol side chain in bile acid biosynthesis. CYP27A1 seems, however, to have roles beyond this, as illustrated by patients with a deficient sterol 27-hydroxylase due
Maria Norlin, Sara von Bahr, Ingemar Björkhem, Kjell Wikvall   +3 more
doaj   +1 more source

Increased maternal and fetal cholesterol efflux capacity and placental CYP27A1 expression in preeclampsia[S]

Journal of Lipid Research, 2017
Preeclampsia is a pregnancy-specific condition that leads to increased cardiovascular risk in later life. A decrease in cholesterol efflux capacity is linked to CVD.
Hiten D. Mistry, Lesia O. Kurlak, Yosef T. Mansour, Line Zurkinden, Markus G. Mohaupt, Geneviève Escher   +5 more
doaj   +1 more source

Ethnic differences in the prevalence of polymorphisms in CYP7A1, CYP7B1 AND CYP27A1 enzymes involved in cholesterol metabolism

Journal of Pharmacy and Bioallied Sciences, 2011
It is well known that drug disposition and response are greatly determined by the activities of drug metabolizing enzymes, which are polymorphic.
Vera Dias, V Ribeiro
doaj   +1 more source

Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.

Journal of Lipid Research, 1994
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive sterol storage disease characterized by the accumulation of a bile alcohol, cholestanol, in diverse tissues.
A Reshef, V Meiner, V M Berginer, E Leitersdorf   +3 more
doaj   +1 more source

Inhibition of Marek’s Disease Virus Replication and Spread by 25-hydroxycholesterol and 27-hydroxycholesterol In Vitro

Viruses, 2023
Marek’s disease virus (MDV) causes a deadly lymphoproliferative disease in chickens, resulting in huge economic losses in the poultry industry. It has been suggested that MDV suppresses the induction of type I interferons and thus escapes immune control.
Nitin Kamble, Vishwanatha R. A. P. Reddy, Ben Jackson, Faisal R. Anjum, Chidiebere C. Ubachukwu, Ajit Patil, Shahriar Behboudi   +6 more
doaj   +1 more source

Effects of cyclosporin on cholesterol 27-hydroxylation and LDL receptor activity in HepG2 cells.

Journal of Lipid Research, 1996
The hypothesis that mitochondrial sterol 27-hydroxylase plays a role in the sterol-mediated down-regulation of LDL receptor activity was evaluated in HepG2 cells. 27-Hydroxycholesterol was found to be more potent at suppressing LDL receptor activity than
D A Winegar, J A Salisbury, S S Sundseth, R L Hawke   +3 more
doaj   +1 more source

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)

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   +1 more source