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27-hydroxycholesterol and Xanthomatosis, Cerebrotendinous

27-hydroxycholesterol has been researched along with Xanthomatosis, Cerebrotendinous in 7 studies

*Xanthomatosis, Cerebrotendinous: An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms. [MeSH]

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's4 (57.14)29.6817
2010's3 (42.86)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Chen, Y; Fu, X; Lund, EG; MacNaul, KL; Menke, JG; Sparrow, CP; Wright, SD; Zhou, G1
Björkhem, I; Del Puppo, M; Dotti, MT; Federico, A; Gallus, GN; Magni, A; Mignarri, A1
Liebisch, G; Matysik, S; Pataj, Z; Schmitz, G1
Böhm, M; Laufs, U; Lütjohann, D; Weingärtner, O1
Björkhem, I; Diczfalusy, U; Movin, T; Papadogiannakis, N; Pikuleva, I; Rönnow, P; von Bahr, S1
Björkhem, I; Eggertsen, G; Floren, CH; Hansson, M; Meaney, S; Olin, M; van't Hooft, F; von Bahr, S1
Javitt, NB1

Reviews

1 review(s) available for 27-hydroxycholesterol and Xanthomatosis, Cerebrotendinous

ArticleYear
Biologic role(s) of the 25(R),26-hydroxycholesterol metabolic pathway.
    Biochimica et biophysica acta, 2000, Dec-15, Volume: 1529, Issue:1-3

    Topics: Animals; Arteriosclerosis; Bile Acids and Salts; Cholestanetriol 26-Monooxygenase; Cytochrome P-450 Enzyme System; Gene Expression Regulation, Enzymologic; Humans; Hydroxycholesterols; Mutation; Nervous System Diseases; Stereoisomerism; Steroid Hydroxylases; Xanthomatosis, Cerebrotendinous

2000

Other Studies

6 other study(ies) available for 27-hydroxycholesterol and Xanthomatosis, Cerebrotendinous

ArticleYear
27-hydroxycholesterol is an endogenous ligand for liver X receptor in cholesterol-loaded cells.
    The Journal of biological chemistry, 2001, Oct-19, Volume: 276, Issue:42

    Topics: ATP Binding Cassette Transporter 1; ATP Binding Cassette Transporter, Subfamily G, Member 1; ATP-Binding Cassette Transporters; CCAAT-Enhancer-Binding Proteins; Cells, Cultured; Cholestenones; Cholesterol; Cholesterol, LDL; DNA-Binding Proteins; DNA, Complementary; Dose-Response Relationship, Drug; Fibroblasts; Gas Chromatography-Mass Spectrometry; Humans; Hydroxycholesterols; Ligands; Liver X Receptors; Macrophages; Orphan Nuclear Receptors; Receptors, Cytoplasmic and Nuclear; Receptors, Retinoic Acid; Receptors, Thyroid Hormone; Reverse Transcriptase Polymerase Chain Reaction; Skin; Sterol Regulatory Element Binding Protein 1; Time Factors; Transcription Factors; Transfection; Xanthomatosis, Cerebrotendinous

2001
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis.
    Journal of inherited metabolic disease, 2016, Volume: 39, Issue:1

    Topics: Adolescent; Adult; Bile Acids and Salts; Biomarkers; Chenodeoxycholic Acid; Cholestanol; Cholestenones; Cholesterol; Disease Progression; Female; Humans; Hydroxycholesterols; Lipid Metabolism; Male; Middle Aged; Prognosis; Xanthomatosis, Cerebrotendinous; Young Adult

2016
Quantification of oxysterols in human plasma and red blood cells by liquid chromatography high-resolution tandem mass spectrometry.
    Journal of chromatography. A, 2016, Mar-25, Volume: 1439

    Topics: Biomarkers; Chromatography, Liquid; Erythrocytes; Humans; Hydroxycholesterols; Ketocholesterols; Niemann-Pick Disease, Type C; Plasma; Stereoisomerism; Tandem Mass Spectrometry; Xanthomatosis, Cerebrotendinous

2016
An alternative pathway of reverse cholesterol transport: the oxysterol 27-hydroxycholesterol.
    Atherosclerosis, 2010, Volume: 209, Issue:1

    Topics: Adult; Biological Transport; Cholestanetriol 26-Monooxygenase; Cholesterol; Coronary Disease; Humans; Hydroxycholesterols; Lipoproteins, HDL; Male; Myocardial Infarction; Radiography; Xanthomatosis, Cerebrotendinous

2010
Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1).
    Arteriosclerosis, thrombosis, and vascular biology, 2002, Jul-01, Volume: 22, Issue:7

    Topics: Adult; Alcoholism; Arteriosclerosis; Blotting, Western; Cells, Cultured; Cholestanetriol 26-Monooxygenase; Cholestanol; Cholesterol; Cytochrome P-450 Enzyme System; Diabetes Complications; Diabetes Mellitus; Female; Gas Chromatography-Mass Spectrometry; Humans; Hydroxycholesterols; Macrophages, Alveolar; Male; Middle Aged; Steroid Hydroxylases; Substrate Specificity; Xanthomatosis, Cerebrotendinous

2002
Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.
    Journal of internal medicine, 2007, Volume: 261, Issue:5

    Topics: Adult; Base Sequence; Cells, Cultured; Cholestanetriol 26-Monooxygenase; Cholestanol; Exons; Female; Humans; Hydroxycholesterols; Mutation; Pedigree; RNA, Messenger; Xanthomatosis, Cerebrotendinous

2007