Disease on EC 1.14.14.25 - cholesterol 24-hydroxylase
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Alzheimer Disease
$CYP46A1$ Functional Promoter Haplotypes Decipher Genetic Susceptibility to Alzheimer's Disease.
Alzheimer Disease
A cluster of cholesterol-related genes confers susceptibility for Alzheimer's disease.
Alzheimer 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.
Alzheimer Disease
An intronic CYP46A1 polymorphism is associated with Alzheimer disease in a Chinese Han population.
Alzheimer Disease
APOE promoter, ACE1 and CYP46 polymorphisms and beta-amyloid in Alzheimer's disease.
Alzheimer Disease
Association between a T/C polymorphism in intron 2 of cholesterol 24S-hydroxylase gene and Alzheimer's disease in Chinese.
Alzheimer Disease
Association of CYP46 gene polymorphism with sporadic Alzheimer's disease in Chinese Han populations: a meta-analysis.
Alzheimer Disease
Association of CYP46 intron 2 polymorphism in Finnish Alzheimer's disease samples and a global scale summary.
Alzheimer Disease
Cholesterol 24-hydroxylase (CYP46A1) polymorphisms are associated with faster cognitive deterioration in Chinese older persons: a two-year follow up study.
Alzheimer Disease
Cholesterol 24-Hydroxylation by CYP46A1: Benefits of Modulation for Brain Diseases.
Alzheimer Disease
Cholesterol-metabolizing enzyme cytochrome P450 46A1 as a pharmacologic target for Alzheimer's disease.
Alzheimer Disease
Chromatin-Modifying Agents Increase Transcription of CYP46A1, a Key Player in Brain Cholesterol Elimination.
Alzheimer Disease
Cyp46 (24S-cholesterol hydroxylase): a genetic risk factor for Alzheimer disease.
Alzheimer Disease
CYP46A1 and the APOE?4 Allele Polymorphisms Correlate with the Risk of Alzheimer's Disease.
Alzheimer Disease
CYP46A1 inhibition, brain cholesterol accumulation and neurodegeneration pave the way for Alzheimer's disease.
Alzheimer 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.
Alzheimer Disease
CYP46A1 T/C polymorphism associated with the APOE?4 allele increases the risk of Alzheimer's disease.
Alzheimer Disease
CYP46A1 variants influence Alzheimer's disease risk and brain cholesterol metabolism.
Alzheimer Disease
Differential expression of cholesterol hydroxylases in Alzheimer's disease.
Alzheimer Disease
Earlier Onset of Alzheimer's Disease: Risk Polymorphisms Within PRNP, PRND, CYP46, and APOE Genes.
Alzheimer Disease
Exclusion of CYP46 and APOM as candidate genes for Alzheimer's disease in a French population.
Alzheimer Disease
Genetic variation in the cholesterol 24-hydroxylase (CYP46) gene and the risk of Alzheimer's disease.
Alzheimer Disease
Imidazo[1,2-a]pyridines as cholesterol 24-hydroxylase (CYP46A1) inhibitors: a patent evaluation (WO2014061676).
Alzheimer Disease
Increased brain beta-amyloid load, phosphorylated tau, and risk of Alzheimer disease associated with an intronic CYP46 polymorphism.
Alzheimer Disease
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.
Alzheimer Disease
Intron 2 (T/C) CYP46 Polymorphism Is Associated with Alzheimer's Disease in Chinese Patients.
Alzheimer Disease
Intronic CYP46 polymorphism along with ApoE genotype in sporadic Alzheimer Disease: from risk factors to disease modulators.
Alzheimer Disease
Lack of association between the CYP46 gene polymorphism and Italian late-onset sporadic Alzheimer's disease.
Alzheimer Disease
Lack of association of the cholesterol 24-hydroxylase (CYP46) intron 2 polymorphism with Alzheimer's disease.
Alzheimer Disease
LincRNA Plays a Role in the Effect of CYP46A1 Polymorphism in Alzheimer's Disease - Related Pathology.
Alzheimer Disease
On the turnover of brain cholesterol in patients with Alzheimer's disease. Abnormal induction of the cholesterol-catabolic enzyme CYP46 in glial cells.
Alzheimer Disease
Pharmacologic stimulation of cytochrome P450 46A1 and cerebral cholesterol turnover in mice.
Alzheimer Disease
Plasma 24S hydroxycholesterol response to statins in Alzheimer's disease patients: effects of gender, CYP46, and ApoE polymorphisms.
Alzheimer Disease
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.
Alzheimer Disease
Polymorphism in the cholesterol 24S-hydroxylase gene is associated with Alzheimer's disease.
Alzheimer Disease
Polymorphisms of cholesterol metabolism genes CYP46 and ABCA1 and the risk of sporadic Alzheimer's disease in Chinese.
Alzheimer Disease
Polymorphisms of the cholesterol 24-hydroxylase (CYP46A1) gene and the risk of Alzheimer's disease in a Chinese population.
Alzheimer Disease
Primary Open Angle Glaucoma: Association with Cholesterol 24S-Hydroxylase (CYP46A1) Gene Polymorphism and Plasma 24-Hydroxycholesterol Levels.
Alzheimer Disease
Reduction of cholesterol synthesis in the mouse brain does not affect amyloid formation in Alzheimer's disease, but does extend lifespan.
Alzheimer Disease
Regulation of alpha- and beta-secretase activity by oxysterols: cerebrosterol stimulates processing of APP via the alpha-secretase pathway.
Alzheimer Disease
Synthesis and pharmacokinetic study of a 11C-labeled cholesterol 24-hydroxylase inhibitor using 'in-loop' [11C]CO2 fixation method.
Alzheimer Disease
The association between CYP46A1 rs4900442 polymorphism and the risk of Alzheimer's disease: A meta-analysis.
Alzheimer Disease
The effects of gender and CYP46 and apo E polymorphism on 24S-hydroxycholesterol levels in Alzheimer's patients treated with statins.
Alzheimer Disease
The key genes, phosphoproteins, processes, and pathways affected by efavirenz-activated CYP46A1 in the amyloid-decreasing paradigm of efavirenz treatment.
Alzheimer Disease
Variants of CYP46A1 may interact with age and APOE to influence CSF Abeta42 levels in Alzheimer's disease.
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 Diseases
Brain Acetyl-CoA Production and Phosphorylation of Cytoskeletal Proteins Are Targets of CYP46A1 Activity Modulation and Altered Sterol Flux.
Brain Diseases
Cholesterol 24-Hydroxylation by CYP46A1: Benefits of Modulation for Brain Diseases.
Brain Diseases
Cholesterol Hydroxylating Cytochrome P450 46A1: From Mechanisms of Action to Clinical Applications.
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.
Diabetes Mellitus, Type 2
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.
Glaucoma
Cholesterol-24S-hydroxylase (CYP46A1) is specifically expressed in neurons of the neural retina.
Glaucoma
Polymorphism of CYP46A1 and PPAR?2 Genes in Risk Prediction of Primary Open Angle Glaucoma Among North Indian Population.
Glaucoma
Primary Open Angle Glaucoma: Association with Cholesterol 24S-Hydroxylase (CYP46A1) Gene Polymorphism and Plasma 24-Hydroxycholesterol Levels.
Glaucoma
Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma.
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.
Glaucoma, Open-Angle
Primary Open Angle Glaucoma: Association with Cholesterol 24S-Hydroxylase (CYP46A1) Gene Polymorphism and Plasma 24-Hydroxycholesterol Levels.
Glaucoma, Open-Angle
Role of cholesterol 24S-hydroxylase gene polymorphism (rs754203) in primary open angle glaucoma.
Glaucoma, Open-Angle
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.
Glioblastoma
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.
Huntington Disease
CYP46A1 protects against NMDA-mediated excitotoxicity in Huntington's disease: Analysis of lipid raft content.
Huntington Disease
CYP46A1, the rate-limiting enzyme for cholesterol degradation, is neuroprotective in Huntington's disease.
Huntington 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.
Macular Degeneration
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.
Neoplasms
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.
Neuroblastoma
Okadaic acid inhibits the trichostatin A-mediated increase of human CYP46A1 neuronal expression in a ERK1/2-Sp3-dependent pathway.
Neuroblastoma
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.
Neurodegenerative Diseases
Cholesterol 24-hydroxylase: Brain cholesterol metabolism and beyond.
Neurodegenerative Diseases
CYP46A1 gene therapy deciphers the role of brain cholesterol metabolism in Huntington's disease.
Neurodegenerative Diseases
Formation and Metabolism of Oxysterols and Cholestenoic acids Found in the Mouse Circulation: Lessons Learnt from Deuterium-Enrichment Experiments and the CYP46A1 Transgenic Mouse.
Neurodegenerative Diseases
Imidazo[1,2-a]pyridines as cholesterol 24-hydroxylase (CYP46A1) inhibitors: a patent evaluation (WO2014061676).
Neurodegenerative Diseases
Neuronal cholesterol metabolism increases dendritic outgrowth and synaptic markers via a concerted action of GGTase-I and Trk.
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.
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.
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