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Disease on EC 1.14.14.25 - cholesterol 24-hydroxylase

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DISEASE
TITLE OF PUBLICATION
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Alzheimer Disease
$CYP46A1$ Functional Promoter Haplotypes Decipher Genetic Susceptibility to Alzheimer's Disease.
A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.
Adeno-associated Virus Gene Therapy With Cholesterol 24-Hydroxylase Reduces the Amyloid Pathology Before or After the Onset of Amyloid Plaques in Mouse Models of Alzheimer's Disease.
An intronic CYP46A1 polymorphism is associated with Alzheimer disease in a Chinese Han population.
APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease.
Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese.
Association of CYP46 gene polymorphism with sporadic Alzheimer's disease in Chinese Han populations: a meta-analysis.
Association of CYP46 intron 2 polymorphism in Finnish Alzheimer's disease samples and a global scale summary.
Cholesterol 24-hydroxylase (CYP46A1) polymorphisms are associated with faster cognitive deterioration in Chinese older persons: a two-year follow up study.
Cholesterol 24-Hydroxylation by CYP46A1: Benefits of Modulation for Brain Diseases.
Cholesterol-metabolizing enzyme cytochrome P450 46A1 as a pharmacologic target for Alzheimer's disease.
Chromatin-Modifying Agents Increase Transcription of CYP46A1, a Key Player in Brain Cholesterol Elimination.
Cyp46 (24S-cholesterol hydroxylase): a genetic risk factor for Alzheimer disease.
Cyp46 polymorphisms in Alzheimer's disease: a review.
CYP46: a risk factor for Alzheimer's disease or a coincidence?
CYP46A1 and the APOE?4 Allele Polymorphisms Correlate with the Risk of Alzheimer's Disease.
CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer's disease.
CYP46A1 intron-2T/C polymorphism and Alzheimer's disease: an updated meta-analysis of 16 studies including 3,960 cases and 3,828 controls.
CYP46A1 T/C polymorphism associated with the APOE?4 allele increases the risk of Alzheimer's disease.
CYP46A1 variants influence Alzheimer's disease risk and brain cholesterol metabolism.
CYP46A1-dependent and independent effects of efavirenz treatment.
Differential expression of cholesterol hydroxylases in Alzheimer's disease.
Earlier Onset of Alzheimer's Disease: Risk Polymorphisms Within PRNP, PRND, CYP46, and APOE Genes.
Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population.
Genetic association of CYP46 and risk for Alzheimer's disease.
Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of Alzheimer's disease.
Imidazo[1,2-a]pyridines as cholesterol 24-hydroxylase (CYP46A1) inhibitors: a patent evaluation (WO2014061676).
Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism.
Increased expression of cholesterol 24S-hydroxylase results in disruption of glial glutamate transporter EAAT2 association with lipid rafts: a potential role in Alzheimer's disease.
Intron 2 (T/C) CYP46 Polymorphism Is Associated with Alzheimer's Disease in Chinese Patients.
Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators.
Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease.
Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's disease.
LincRNA Plays a Role in the Effect of CYP46A1 Polymorphism in Alzheimer's Disease - Related Pathology.
New Therapeutic Targets for Brain Function and Disease.
On the turnover of brain cholesterol in patients with Alzheimer's disease. Abnormal induction of the cholesterol-catabolic enzyme CYP46 in glial cells.
Pharmacologic stimulation of cytochrome P450 46A1 and cerebral cholesterol turnover in mice.
Plasma 24S hydroxycholesterol response to statins in Alzheimer's disease patients: effects of gender, CYP46, and ApoE polymorphisms.
Polymorphism in the cholesterol 24S-hydroxylase gene (CYP46A1) associated with the APOEpsilon3 allele increases the risk of Alzheimer's disease and of mild cognitive impairment progressing to Alzheimer's disease.
Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease.
Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer's disease in Chinese.
Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population.
Primary Open Angle Glaucoma: Association with Cholesterol 24S-Hydroxylase (CYP46A1) Gene Polymorphism and Plasma 24-Hydroxycholesterol Levels.
Reduction of cholesterol synthesis in the mouse brain does not affect amyloid formation in Alzheimer's disease, but does extend lifespan.
Regulation of alpha- and beta-secretase activity by oxysterols: cerebrosterol stimulates processing of APP via the alpha-secretase pathway.
Synthesis and pharmacokinetic study of a 11C-labeled cholesterol 24-hydroxylase inhibitor using 'in-loop' [11C]CO2 fixation method.
The association between CYP46A1 rs4900442 polymorphism and the risk of Alzheimer's disease: A meta-analysis.
The effects of gender and CYP46 and apo E polymorphism on 24S-hydroxycholesterol levels in Alzheimer's patients treated with statins.
The key genes, phosphoproteins, processes, and pathways affected by efavirenz-activated CYP46A1 in the amyloid-decreasing paradigm of efavirenz treatment.
Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease.
[Cholesterol and Alzheimer's disease]
[Cholesterol and statins in Alzheimer disease]
[Correlation of cholesterol 24-hydroxylase and ATP-binding cassette transporter A1 polymorphisms with Alzheimer's disease]
Amyotrophic Lateral Sclerosis
Cholesterol Hydroxylating Cytochrome P450 46A1: From Mechanisms of Action to Clinical Applications.
Ataxia
Cholesterol Hydroxylating Cytochrome P450 46A1: From Mechanisms of Action to Clinical Applications.
Brain Diseases
A phase 1b/2a study of soticlestat as adjunctive therapy in participants with developmental and/or epileptic encephalopathies.
Brain Acetyl-CoA Production and Phosphorylation of Cytoskeletal Proteins Are Targets of CYP46A1 Activity Modulation and Altered Sterol Flux.
Cholesterol 24-Hydroxylation by CYP46A1: Benefits of Modulation for Brain Diseases.
Cholesterol Hydroxylating Cytochrome P450 46A1: From Mechanisms of Action to Clinical Applications.
CYP46A1-dependent and independent effects of efavirenz treatment.
New Therapeutic Targets for Brain Function and Disease.
Brain Injuries
Brain injury induces cholesterol 24-hydroxylase (Cyp46) expression in glial cells in a time-dependent manner.
Cerebrovascular Disorders
Association of blood pressure and genetic background with white matter lesions in patients with mild cognitive impairment.
cholesterol 24-hydroxylase deficiency
Transcriptional and post-translational changes in the brain of mice deficient in cholesterol removal mediated by cytochrome P450 46A1 (CYP46A1).
Colorectal Neoplasms
Characterisation of the oxysterol metabolising enzyme pathway in mismatch repair proficient and deficient colorectal cancer.
Dementia
CYP46 T/C polymorphism is not associated with Alzheimer's dementia in a population from Hungary.
Demyelinating Diseases
Expression profiles of cholesterol metabolism-related genes are altered during development of experimental autoimmune encephalomyelitis in the rat spinal cord.
Diabetes Mellitus
The relationship between Multidrug Resistance Protein 1(rs1045642) and Cholesterol 24-hydroxylase (rs754203) genes polymorphism with type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Increased Plasma Level of 24S-Hydroxycholesterol and Polymorphism of CYP46A1 SNP (rs754203) Are Associated With Mild Cognitive Impairment in Patients With Type 2 Diabetes.
The relationship between Multidrug Resistance Protein 1(rs1045642) and Cholesterol 24-hydroxylase (rs754203) genes polymorphism with type 2 diabetes mellitus.
Dyslipidemias
Effect of Hydroalcoholic Ginger Extract on Brain HMG-CoA Reductase and CYP46A1 Levels in Streptozotocin-induced Diabetic Rats.
Encephalomyelitis
Expression profiles of cholesterol metabolism-related genes are altered during development of experimental autoimmune encephalomyelitis in the rat spinal cord.
Encephalomyelitis, Autoimmune, Experimental
Expression profiles of cholesterol metabolism-related genes are altered during development of experimental autoimmune encephalomyelitis in the rat spinal cord.
Epilepsies, Myoclonic
Soticlestat, a novel cholesterol 24-hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice.
Epilepsy
Cholesterol Hydroxylating Cytochrome P450 46A1: From Mechanisms of Action to Clinical Applications.
Essential Hypertension
OS 08-01 ASSOCIATION OF ACE, FABP2, PPARG2, GST, FTO AND CYP46A1 GENES POLYMORPHISM WITH ESSENTIAL HYPERTENSION AMONG NORTH INDIAN POPULATION.
Glaucoma
24S-hydroxycholesterol and cholesterol-24S-hydroxylase (CYP46A1) in the retina: from cholesterol homeostasis to pathophysiology of glaucoma.
Cholesterol-24S-hydroxylase (CYP46A1) is specifically expressed in neurons of the neural retina.
Polymorphism of CYP46A1 and PPAR?2 Genes in Risk Prediction of Primary Open Angle Glaucoma Among North Indian Population.
Primary Open Angle Glaucoma: Association with Cholesterol 24S-Hydroxylase (CYP46A1) Gene Polymorphism and Plasma 24-Hydroxycholesterol Levels.
Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma.
Steady-state levels of retinal 24S-hydroxycholesterol are maintained by glial cells intervention after elevation of intraocular pressure in the rat.
Glaucoma, Open-Angle
Polymorphism of CYP46A1 and PPAR?2 Genes in Risk Prediction of Primary Open Angle Glaucoma Among North Indian Population.
Primary Open Angle Glaucoma: Association with Cholesterol 24S-Hydroxylase (CYP46A1) Gene Polymorphism and Plasma 24-Hydroxycholesterol Levels.
Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma.
SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma.
Glioblastoma
Cholesterol Hydroxylating Cytochrome P450 46A1: From Mechanisms of Action to Clinical Applications.
Therapeutic implications of altered cholesterol homeostasis mediated by loss of CYP46A1 in human glioblastoma.
Glioma
Therapeutic implications of altered cholesterol homeostasis mediated by loss of CYP46A1 in human glioblastoma.
Herpes Zoster
SNP rs1533428 at 2p16.3 as a marker for late-onset primary open-angle glaucoma.
Huntington Disease
CYP46A1 gene therapy deciphers the role of brain cholesterol metabolism in Huntington's disease.
CYP46A1 protects against NMDA-mediated excitotoxicity in Huntington's disease: Analysis of lipid raft content.
CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease.
The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington's disease.
Hypoxia-Ischemia, Brain
Cholesterol 24S-Hydroxylase overexpression increases the lipid droplet formation of human umbilical cord mesenchymal stem cells but does not affect adipocyte differentiation.
Infections
Cholesterol Hydroxylating Cytochrome P450 46A1: From Mechanisms of Action to Clinical Applications.
Macular Degeneration
Cholesterol-24S-hydroxylase (CYP46A1) is specifically expressed in neurons of the neural retina.
Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in AMD.
Metabolic Syndrome
Effects of metabolic syndrome, apolipoprotein E, and CYP46 on cognition among Taiwanese Chinese.
Multiple Sclerosis
Association of cholesterol 7?-hydroxylase (CYP7A1) promoter polymorphism (rs3808607) and cholesterol 24S-hydroxylase (CYP46A1) intron 2 polymorphism (rs754203) with serum lipids, vitamin D levels, and multiple sclerosis risk in the Turkish population.
Neoplasms
24-Hydroxycholesterol participates in pancreatic neuroendocrine tumor development.
Therapeutic implications of altered cholesterol homeostasis mediated by loss of CYP46A1 in human glioblastoma.
Nervous System Diseases
Cholesterol-24S-hydroxylase (CYP46A1) is specifically expressed in neurons of the neural retina.
Neuroblastoma
Cholesterol 24S-Hydroxylase Overexpression Inhibits the Liver X Receptor (LXR) Pathway by Activating Small Guanosine Triphosphate-Binding Proteins (sGTPases) in Neuronal Cells.
Okadaic acid inhibits the trichostatin A-mediated increase of human CYP46A1 neuronal expression in a ERK1/2-Sp3-dependent pathway.
The cholesterol 24-hydroxylase activates autophagy and decreases mutant huntingtin build-up in a neuroblastoma culture model of Huntington's disease.
Neurodegenerative Diseases
Brain sterol flux mediated by cytochrome P450 46A1 affects membrane properties and membrane-dependent processes.
Cholesterol 24-hydroxylase: Brain cholesterol metabolism and beyond.
CYP46A1 gene therapy deciphers the role of brain cholesterol metabolism in Huntington's disease.
Formation and Metabolism of Oxysterols and Cholestenoic acids Found in the Mouse Circulation: Lessons Learnt from Deuterium-Enrichment Experiments and the CYP46A1 Transgenic Mouse.
Imidazo[1,2-a]pyridines as cholesterol 24-hydroxylase (CYP46A1) inhibitors: a patent evaluation (WO2014061676).
Neuronal cholesterol metabolism increases dendritic outgrowth and synaptic markers via a concerted action of GGTase-I and Trk.
Rediscovery of cerebrosterol.
Neuroectodermal Tumors, Primitive
24-Hydroxycholesterol participates in pancreatic neuroendocrine tumor development.
Neuroendocrine Tumors
24-Hydroxycholesterol participates in pancreatic neuroendocrine tumor development.
Non-alcoholic Fatty Liver Disease
Identification of CYP46A1 as a new regulator of lipid metabolism through CRISPR-based whole-genome screening.
Obesity
A Pilot Study of Gene/Gene and Gene/Environment Interactions in Alzheimer Disease.
Parkinson Disease
Imidazo[1,2-a]pyridines as cholesterol 24-hydroxylase (CYP46A1) inhibitors: a patent evaluation (WO2014061676).
Prion Diseases
Oral administration of repurposed drug targeting Cyp46A1 increases survival times of prion infected mice.
Prostatic Neoplasms
Binding of a cyano- and fluoro-containing drug bicalutamide to cytochrome P450 46A1: unusual features and spectral response.
Retinal Degeneration
Oxysterols: functional significance in fetal development and the maintenance of normal retinal function.
Seizures
Soticlestat, a novel cholesterol 24-hydroxylase inhibitor, reduces seizures and premature death in Dravet syndrome mice.
Spinocerebellar Ataxias
Cholesterol Hydroxylating Cytochrome P450 46A1: From Mechanisms of Action to Clinical Applications.
Tauopathies
Cholesterol 24-hydroxylase defect is implicated in memory impairments associated with Alzheimer-like Tau pathology.
unspecific monooxygenase deficiency
Cytochrome P450 27A1 Deficiency and Regional Differences in Brain Sterol Metabolism Cause Preferential Cholestanol Accumulation in the Cerebellum.