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Disease on EC 1.14.15.15 - cholestanetriol 26-monooxygenase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
25/26-hydroxycholesterol 7alpha-hydroxylase deficiency
Mechanisms of disease: Inborn errors of bile acid synthesis.
Adenocarcinoma
An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes.
Adenoma
Expression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human liver and kidney.
alpha-methylacyl-coa racemase deficiency
Mechanisms of disease: Inborn errors of bile acid synthesis.
Ataxia
Inborn errors of metabolism with consequences for bile acid biosynthesis. A minireview.
Atherosclerosis
A potential role for sterol 27-hydroxylase in atherogenesis.
An alternative pathway of reverse cholesterol transport: The oxysterol 27-hydroxycholesterol.
Atherosclerosis and sterol 27-hydroxylase: evidence for a role of this enzyme in elimination of cholesterol from human macrophages.
Bile acid synthesis from cholesterol: regulatory and auxiliary pathways.
Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: decreased activity in sitosterolemia.
Hepatic cholesterol and bile acid synthesis, low-density lipoprotein receptor function, and plasma and fecal sterol levels in mice: effects of apolipoprotein E deficiency and probucol or phytosterol treatment.
Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.
Transcriptional regulation of the human sterol 27-hydroxylase gene (CYP27) and promoter mapping.
Biliary Fistula
Quantitative estimations of the contribution of different bile acid pathways to total bile acid synthesis in the rat.
Breast Neoplasms
Marketed Drugs Can Inhibit Cytochrome P450 27A1, a Potential New Target for Breast Cancer Adjuvant Therapy.
Carcinoma
Expression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human liver and kidney.
Carcinoma, Hepatocellular
Expression of vitamin D3 25-hydroxylase (CYP27) mRNA after induction by vitamin D3 or UVB radiation in keratinocytes of human skin equivalents--a preliminary study.
Transfected human liver cytochrome P-450 hydroxylates vitamin D analogs at different side-chain positions.
Carotid Artery Diseases
Elevated expression of the genes encoding TNF-alpha and thromboxane synthase in leucocytes from patients with systemic sclerosis.
Cataract
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.
cholestanetriol 26-monooxygenase deficiency
Atherosclerosis and sterol 27-hydroxylase: evidence for a role of this enzyme in elimination of cholesterol from human macrophages.
Bile acid synthesis from cholesterol: regulatory and auxiliary pathways.
Bile acid synthesis in HepG2 cells: effect of cyclosporin.
Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.
Disorders of bile acid synthesis.
Elimination of cholesterol in macrophages and endothelial cells by the sterol 27-hydroxylase mechanism. Comparison with high density lipoprotein-mediated reverse cholesterol transport.
Four novel CYP27A1 mutations in seven Italian patients with CTX.
Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).
Inborn errors of metabolism with consequences for bile acid biosynthesis. A minireview.
On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis.
Role of CYP27A in cholesterol and bile acid metabolism.
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.
Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans.
Cholestasis
Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy.
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.
Dementia
Frontal lobe dementia with abnormal cholesterol metabolism and heterozygous mutation in sterol 27-hydroxylase gene (CYP27).
Inborn errors of metabolism with consequences for bile acid biosynthesis. A minireview.
Diabetes Mellitus, Type 1
[Vitamin D3 availability and functional activity of peripheral blood phagocytes in experimental type 1 diabetes].
Diabetic Nephropathies
Influence of the Klotho/FGF23/Egr1 signaling pathway on calcium-phosphorus metabolism in diabetic nephropathy and the intervention of Shenyuan granules.
Gallbladder Neoplasms
An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes.
Gallstones
Antilithiasic effect of beta-cyclodextrin in LPN hamster: comparison with cholestyramine.
Fibrates suppress bile acid synthesis via peroxisome proliferator-activated receptor-alpha-mediated downregulation of cholesterol 7alpha-hydroxylase and sterol 27-hydroxylase expression.
Hepatitis
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.
Hepatoblastoma
Metabolism of an oxysterol, 7-ketocholesterol, by sterol 27-hydroxylase in HepG2 cells.
Hepatomegaly
Disruption of the sterol 27-hydroxylase gene in mice results in hepatomegaly and hypertriglyceridemia. Reversal by cholic acid feeding.
Hypercholesterolemia
Competitive inhibition of hepatic sterol 27-hydroxylase by sitosterol: decreased activity in sitosterolemia.
Hyperlipidemias
Mitochondrial cholesterol transport: a possible target in the management of hyperlipidemia.
Hypertriglyceridemia
Disruption of the sterol 27-hydroxylase gene in mice results in hepatomegaly and hypertriglyceridemia. Reversal by cholic acid feeding.
Infections
cDNA-directed expression of rat testosterone 7 alpha-hydroxylase using the modified vaccinia virus, T7-RNA-polymerase system and evidence for 6 alpha-hydroxylation and delta 6-testosterone formation.
Overexpression of CYP27 in hepatic and extrahepatic cells: role in the regulation of cholesterol homeostasis.
Liver Failure
Insufficient bile acid signaling impairs liver repair in CYP27(-/-) mice.
Macular Degeneration
Abnormal vascularization in mouse retina with dysregulated retinal cholesterol homeostasis.
Metabolic Diseases
Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review.
Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.
Muscle Spasticity
Disorders of bile acid synthesis.
Neoplasm Metastasis
Expression of CYP27A, a gene encoding a vitamin D-25 hydroxylase in human liver and kidney.
Neoplasms
An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes.
In vivo and in vitro regulation of sterol 27-hydroxylase in the liver during the acute phase response. potential role of hepatocyte nuclear factor-1.
Neurodegenerative Diseases
Rifampicin-induced CYP3A4 activation in CTX patients cannot replace chenodeoxycholic acid treatment.
[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].
Osteomalacia
Phenobarbital suppresses vitamin D3 25-hydroxylase expression: a potential new mechanism for drug-induced osteomalacia.
Parkinsonian Disorders
Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.
Perinatal Death
Mutation in the sterol 27-hydroxylase gene associated with fatal cholestasis in infancy.
Pre-Eclampsia
Increased maternal and fetal cholesterol efflux capacity and placental CYP27A1 expression in preeclampsia.
Proteinuria
Influence of the Klotho/FGF23/Egr1 signaling pathway on calcium-phosphorus metabolism in diabetic nephropathy and the intervention of Shenyuan granules.
Pulmonary Disease, Chronic Obstructive
27-hydroxycholesterol accelerates cellular senescence in human lung resident cells.
Increase of 27-hydroxycholesterol in the airways of patients with chronic obstructive pulmonary disease: possible role of 27-hydroxycholesterol in tissue fibrosis.
Retinal Neovascularization
Abnormal vascularization in mouse retina with dysregulated retinal cholesterol homeostasis.
Vaccinia
cDNA-directed expression of rat testosterone 7 alpha-hydroxylase using the modified vaccinia virus, T7-RNA-polymerase system and evidence for 6 alpha-hydroxylation and delta 6-testosterone formation.
Xanthomatosis
Disorders of bile acid synthesis.
Five decades with oxysterols.
Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1).
Molecular genetics of cerebrotendinous xanthomatosis in Jews of north African origin.
On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase.
On the mechanism of cerebral accumulation of cholestanol in patients with cerebrotendinous xanthomatosis.
On the substrate specificity of human CYP27A1: implications for bile acid and cholestanol formation.
Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans.
Xanthomatosis, Cerebrotendinous
2 Novel deletions of the sterol 27-hydroxylase gene in a Chinese Family with Cerebrotendinous Xanthomatosis.
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
A Japanese patient with cerebrotendinous xanthomatosis has different mutations within two functional domains of CYP27.
A novel Arg362Ser mutation in the sterol 27-hydroxylase gene (CYP27): its effects on pre-mRNA splicing and enzyme activity.
A novel frameshift mutation in the sterol 27-hydroxylase gene in an Egyptian family with cerebrotendinous xanthomatosis without cataract.
A novel mutation in the sterol 27-hydroxylase gene of a Pakistani family with autosomal recessive cerebrotendinous xanthomatosis.
A novel mutation in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis.
A point mutation in the bile acid biosynthetic enzyme sterol 27-hydroxylase in a family with cerebrotendinous xanthomatosis.
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).
An autopsy case of gallbladder cancer developing in a Japanese man with cerebrotendinous xanthomatosis: genetic analysis of the sterol 27-hydroxylase and p53 genes.
Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene.
Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.
Cerebrotendinous xanthomatosis with psychiatric disorders: report of three siblings and literature review.
Cerebrotendinous xanthomatosis without tendon xanthomas mimicking Marinesco-Sjoegren syndrome: a case report.
Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.
Cerebrotendinous xanthomatosis.
Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.
Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy.
Cerebrotendinous xanthomatosis: an inborn error in bile acid synthesis with defined mutations but still a challenge.
Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.
Cerebrotendinous xanthomatosis: report of two Brazilian brothers.
Chenodeoxycholic Acid: An Update on Its Therapeutic Applications.
Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene.
Clinical imaging and neuropathological correlations in an unusual case of cerebrotendinous xanthomatosis.
Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis.
Could steroids mask the diagnosis of cerebrotendinous xanthomatosis?
Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis.
Disrupted coordinate regulation of farnesoid X receptor target genes in a patient with cerebrotendinous xanthomatosis.
Early diagnosed cerebrotendinous xanthomatosis patients: clinical, neuroradiological characteristics and therapy results of a single center from Turkey.
Epidemiology, diagnosis, and treatment of cerebrotendinous xanthomatosis (CTX).
Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis.
Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis.
Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.
Four novel CYP27A1 mutations in seven Italian patients with CTX.
Four novel mutations of sterol 27-hydroxylase gene in Italian patients with cerebrotendinous xanthomatosis.
Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin.
Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of cerebrotendinous xanthomatosis.
Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis.
Genetic analysis of a Japanese cerebrotendinous xanthomatosis family: identification of a novel mutation in the adrenodoxin binding region of the CYP 27 gene.
Identification of a novel missense mutation in the sterol 27-hydroxylase gene in two Japanese patients with cerebrotendinous xanthomatosis.
Identification of new mutations in sterol 27-hydroxylase gene in Japanese patients with cerebrotendinous xanthomatosis (CTX).
Japanese triplets with cerebrotendinous xanthomatosis are homozygous for a mutant gene coding for the sterol 27-hydroxylase (Arg441Trp).
Late-onset spinal form xanthomatosis without brain lesion: a case report.
Mechanism of accumulation of cholesterol and cholestanol in tendons and the role of sterol 27-hydroxylase (CYP27A1).
Mechanisms of disease: Inborn errors of bile acid synthesis.
Metabolism of the cholestanol precursor cholesta-4,6-dien-3-one in different tissues.
Mutation of the sterol 27-hydroxylase gene ( CYP27A1) in a Taiwanese family with cerebrotendinous xanthomatosis.
Mutation of the sterol 27-hydroxylase gene (CYP27) results in truncation of mRNA expressed in leucocytes in a Japanese family with cerebrotendinous xanthomatosis.
Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis.
Mutations in the sterol 27-hydroxylase gene (CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.
Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism.
New insights into the pathological mechanisms of cerebrotendinous xanthomatosis in the Taiwanese using genomic and proteomic tools.
Novel homozygous and compound heterozygous mutations of sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis in three Japanese patients from two unrelated families.
On the mechanism of accumulation of cholestanol in the brain of mice with a disruption of sterol 27-hydroxylase.
Partial deletion of the gene encoding sterol 27-hydroxylase in a subject with cerebrotendinous xanthomatosis.
Pathophysiology of cerebrotendinous xanthomatosis.
Patients with cerebrotendinous xanthomatosis diagnosed with diverse multisystem involvement.
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in a French family.
Premature termination codon at the sterol 27-hydroxylase gene causes cerebrotendinous xanthomatosis in an Afrikaner family.
Prevalence of Cerebrotendinous Xanthomatosis Among Patients Diagnosed With Acquired Juvenile-Onset Idiopathic Bilateral Cataracts.
Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy.
Rifampicin-induced CYP3A4 activation in CTX patients cannot replace chenodeoxycholic acid treatment.
Role of CYP27A in cholesterol and bile acid metabolism.
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
Side chain hydroxylations in bile acid biosynthesis catalyzed by CYP3A are markedly up-regulated in Cyp27-/- mice but not in cerebrotendinous xanthomatosis.
Silent nucleotide substitution in the sterol 27-hydroxylase gene (CYP 27) leads to alternative pre-mRNA splicing by activating a cryptic 5' splice site at the mutant codon in cerebrotendinous xanthomatosis patients.
SPECT imaging for brain improvement quantification in a patient with cerebrotendinous xanthomatosis.
Sterol 27-hydroxylase acts on 7-ketocholesterol in human atherosclerotic lesions and macrophages in culture.
Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.
The wide spectrum of cerebrotendinous xanthomatosis: Case report of a rare but treatable disease.
Three siblings with Cerebrotendinous Xanthomatosis: A novel mutation in the CYP27A1 gene.
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots.
Two new mutations in the sterol 27-hydroxylase gene in two families lead to cerebrotendinous xanthomatosis.
Two novel mutations in the sterol 27-hydroxylase gene causing cerebrotendinous xanthomatosis.
Unique patient with cerebrotendinous xanthomatosis. Evidence for presence of a defect in a gene that is not identical to sterol 27-hydroxylase.
[Cerebrotendinous xanthomatosis: a multicentric retrospective study of 15 adults, clinical and paraclinical typical and atypical aspects].
[Cerebrotendinous xanthomatosis: report of one case]
[Laboratory diagnosis of a rare congenital neurodegenerative disease: cerebrotendinous xanthomatosis].
Zellweger Syndrome
Mechanisms of disease: Inborn errors of bile acid synthesis.