É uma doença metabólica hereditária que acontece por uma falha no processo de produção de substâncias gordurosas importantes para o corpo.
Introdução
O que você precisa saber de cara
É uma doença metabólica hereditária que acontece por uma falha no processo de produção de substâncias gordurosas importantes para o corpo.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 208 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 558 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
9 genes identificados com associação a esta condição.
Catalyzes the penultimate step of the biosynthesis of cholesterol, the dehydrogenation of lathosterol into 7-dehydrocholesterol (7-DHC). Cholesterol is the major sterol component in mammalian membranes and a precursor for bile acid and steroid hormone synthesis (PubMed:10786622, PubMed:38297129). In addition to its essential role in cholesterol biosynthesis, it also indirectly regulates ferroptosis through the production of 7-DHC. By diverting the spread of damage caused by peroxyl radicals from
Endoplasmic reticulum membrane
Lathosterolosis
An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage.
Oxidoreductase that catalyzes the last step of the cholesterol synthesis pathway, which transforms cholesta-5,7-dien-3beta-ol (7-dehydrocholesterol,7-DHC) into cholesterol by reducing the C7-C8 double bond of its sterol core (PubMed:25637936, PubMed:38297129, PubMed:38297130, PubMed:9465114, PubMed:9634533). Can also metabolize cholesta-5,7,24-trien-3beta-ol (7-dehydrodemosterol, 7-DHD) to desmosterol, which is then metabolized by the Delta(24)-sterol reductase (DHCR24) to cholesterol (By simila
Endoplasmic reticulum membrane
Smith-Lemli-Opitz syndrome
An autosomal recessive frequent inborn disorder of sterol metabolism with characteristic congenital malformations and intellectual disability. Children with SLOS have elevated serum 7-dehydrocholesterol (7-DHC) levels and low serum cholesterol levels. SLOS occurs in relatively high frequency: approximately 1 in 20,000 to 30,000 births in populations of northern and central European background. Historically, a clinical distinction often was made between classic ('type I') SLOS and the more severely affected ('type II') patients. There is, in reality, a clinical and biochemical continuum from mild to severe SLOS.
Exhibits arylsulfatase activity towards the artificial substrate 4-methylumbelliferyl sulfate (PubMed:7720070, PubMed:9497243). May be essential for the correct composition of cartilage and bone matrix during development (PubMed:7720070). Has no activity toward steroid sulfates (PubMed:7720070)
Golgi apparatus, Golgi stack
Chondrodysplasia punctata 1, X-linked recessive
A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. CDPX1 is a congenital defect of bone and cartilage development characterized by aberrant bone mineralization, severe underdevelopment of nasal cartilage, and distal phalangeal hypoplasia. This disease can also be induced by inhibition with the drug warfarin.
Catalyzes the NAD(P)(+)-dependent oxidative decarboxylation of the C4 methyl groups of 4-alpha-carboxysterols in post-squalene cholesterol biosynthesis (By similarity). Also plays a role in the regulation of the endocytic trafficking of EGFR (By similarity)
Endoplasmic reticulum membraneLipid droplet
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects
An X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, which typically results in male lethality. Clinically, it is characterized by congenital, unilateral, ichthyosisform erythroderma with striking lateralization, sharp midline demarcation, and ipsilateral limb defects and hypoplasia of the body. Limbs defects range from hypoplasia of digits or ribs to complete amelia, often including scoliosis.
Catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis (PubMed:11519011, PubMed:21671375, PubMed:22178193, PubMed:25637936). In addition to its cholesterol-synthesizing activity, can protect cells from oxidative stress by reducing caspase 3 activity during apoptosis induced by oxidative stress (PubMed:11007892, PubMed:22010141). Also protects against amyloid-beta peptide-induced apoptosis (PubMed:11007892)
Endoplasmic reticulum membraneGolgi apparatus membrane
Desmosterolosis
Rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells.
Catalyzes the reduction of the C14-unsaturated bond of lanosterol, as part of the metabolic pathway leading to cholesterol biosynthesis (PubMed:12618959, PubMed:16784888, PubMed:21327084, PubMed:27336722, PubMed:9630650). Plays a critical role in myeloid cell cholesterol biosynthesis which is essential to both myeloid cell growth and functional maturation (By similarity). Mediates the activation of NADPH oxidases, perhaps by maintaining critical levels of cholesterol required for membrane lipid
Nucleus inner membraneEndoplasmic reticulum membraneCytoplasmNucleus
Pelger-Huet anomaly
An autosomal dominant inherited abnormality of granulocytes, characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure.
Catalyzes the three-step monooxygenation required for the demethylation of 4,4-dimethyl and 4alpha-methylsterols, which can be subsequently metabolized to cholesterol (PubMed:21285510, PubMed:23583456, PubMed:26114596, PubMed:28673550, PubMed:36958722). Also involved in drug metabolism, as it can metabolize eldecalcitol (ED-71 or 1alpha,25-dihydroxy-2beta-(3-hydroxypropoxy)-cholecalciferol), a second-generation vitamin D analog, into 1alpha,2beta,25-trihydroxy vitamin D3; this reaction occurs vi
Endoplasmic reticulum membrane
Microcephaly, congenital cataract, and psoriasiform dermatitis
An autosomal recessive inborn error of cholesterol metabolism characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols, in affected individuals. Patients manifest psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay.
Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis (PubMed:11278915, PubMed:18302342, PubMed:9325256, PubMed:9392419)
CytoplasmPeroxisome
Mevalonic aciduria
Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia.
Isomerase that catalyzes the conversion of Delta(8)-sterols to their corresponding Delta(7)-isomers a catalytic step in the postlanosterol biosynthesis of cholesterol Component of the microsomal antiestrogen binding site (AEBS), a multiproteic complex at the ER membrane that consists of an association between EBP and 7-dehydrocholesterol reductase/DHCR7 (PubMed:15175332, PubMed:20615952). This complex is responsible for cholesterol-5,6-epoxide hydrolase (ChEH) activity, which consists in the hyd
Endoplasmic reticulum membraneNucleus envelopeCytoplasmic vesicle
Chondrodysplasia punctata 2, X-linked dominant
A clinically and genetically heterogeneous disorder characterized by punctiform calcification of the bones. The key clinical features of CDPX2 are chondrodysplasia punctata, linear ichthyosis, cataracts and short stature. CDPX2 is a rare disorder of defective cholesterol biosynthesis, biochemically characterized by an increased amount of 8-dehydrocholesterol and cholest-8(9)-en-3-beta-ol in the plasma and tissues.
Variantes genéticas (ClinVar)
725 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
17 vias biológicas associadas aos genes desta condição.
Diagnóstico
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🇧🇷 Atendimento SUS — Doença da biossíntese dos esteróis
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The Inherited Basis of Coronary Artery Disease.
Investigations of the genetic basis of coronary artery disease have led to advances in mechanistic insights, therapeutics, prevention, and risk prediction. Indeed, most contemporary medicines for coronary artery disease target pathways that promote atherosclerosis due to underpinning genetic mechanisms. Monogenic causes of coronary artery disease occur in approximately 1 out of 250 people and mostly result in massively elevated lipid levels. At the population level, hundreds of common variants with small effect sizes have even greater influence. They can be combined in polygenic risk scores that depict genetic risk in a person relative to the average in the general population. The risk among persons in the highest 5% is 3 to 5 times that among persons with an average score; relative risk derived from the polygenic risk score can be used to multiply the absolute risk derived from a clinical risk score. Key questions remain regarding the clinical value, cost-effectiveness, and implementation strategies required to integrate coronary artery disease polygenic risk scores into clinical practice.
Statin prescription rates for prevention of atherosclerotic cardiovascular disease in adults 40-75 years old with type 1 diabetes.
Adults with type 1 diabetes (T1D) are at markedly elevated risk of atherosclerotic cardiovascular disease (ASCVD). Guidelines recommend statin use for ASCVD prevention in diabetes between the ages of 40 and 75 years. This study aimed to evaluate statin prescribing rates for primary and secondary prevention of ASCVD in this age range with T1D and to identify disparities and barriers to optimal statin use. A retrospective cross-sectional study of 266 adults with T1D aged 40-75 years was conducted at an integrated health system between 2020 and 2024. Demographic features, statin prescribing patterns, low-density lipoprotein (LDL) cholesterol levels and use of additional lipid-lowering agents were extracted from medical records. Barriers to prescribing were identified via endocrine physician documentation. Among 266 adults with T1D aged 40-75 years, only 43.2% (95% CI 0.37 to 0.49) were prescribed guideline-recommended statin and 39.3% of those with a history of ASCVD received a high-intensity statin. Overall, 47.7% (95% CI 0.42 to 0.54) of patients achieved the latest LDL cholesterol targets, and 53.0% (95% CI 0.47 to 0.59) if using pre-2023 targets. Deferral to another healthcare professional (23.3%), statin intolerance (15.8%), and clinical inertia (9.0%) were the most common barriers to therapy. In multivariable analyses, female sex was independently associated with lower odds of receiving guideline-recommended statin therapy (aOR 0.45, 95% CI 0.24 to 0.85, p=0.015) and lower odds of achieving LDL targets (OR 0.43, 95% CI 0.28 to 0.64, p=0.046), while ASCVD history was associated with higher odds of statin use (aOR 2.75, 95% CI 1.34 to 5.57, p=0.005). Very few patients received adjunctive lipid-lowering agents (ezetimibe 4.1%, PCSK9 inhibitor 0.4%, none on bempedoic acid). Notable gaps exist in statin prescribing and LDL goal attainment among adults with T1D, particularly women. Efforts to enhance care coordination, promote healthcare professional education and expand the use of adjunctive lipid-lowering therapies may help improve cardiovascular prevention in this high-risk population.
Transcriptomic Insights Into Alzheimer's Disease: Differentially Expressed Genes and Cholesterol Metabolism.
Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive decline and memory impairment, posing significant challenges to affected individuals, their families, and healthcare systems globally. With projections indicating that the prevalence of AD could escalate to 152 million cases by 2050, there is an urgent need to elucidate the underlying mechanisms driving this condition. Additionally, developing effective diagnostic tools to aid in its early detection and management is crucial. In this study, we utilized a combination of Mendelian randomization and advanced machine learning techniques to analyze transcriptomic data from five distinct cohorts of Alzheimer's Disease (AD) patients. After addressing batch effects, we identified differentially expressed genes (DEGs) between the AD and control groups. Mendelian randomization analysis was conducted to assess the causal relationships between DEGs and AD risk. A Venn diagram was subsequently used to identify genes associated with cholesterol metabolism from the screened gene set. The shared DEGs were subjected to functional enrichment analyses. Furthermore, immune analysis was quantified using Gene Set Enrichment Analysis (GSEA). A diagnostic model for AD was developed by evaluating 113 combinations of 12 machine learning algorithms with 10-fold cross-validation on the training datasets, followed by external validation on test datasets. Finally, immunofluorescence staining was performed on mouse brain slices to verify the expression level of KLHL21. Our analyses identified a substantial number of differentially expressed genes (DEGs) demonstrating significant differences between Alzheimer's disease (AD) patients and control groups. Among these, we identified 29 genes associated with AD, with 21 of them linked to cholesterol metabolism, highlighting its pivotal role in the disease's pathogenesis. From this set, we developed a robust 8-gene diagnostic signature (comprising CHSY1, FIBP, DHCR24, HVCN1, KIFAP3, KLHL21, LETMD1, and SLC25A29), which outperformed existing AD diagnostic models in both training and testing cohorts. Additionally, complementary animal experiments were conducted to validate the biological relevance of these genes, further elucidating their roles in AD pathology. Our research identified critical genes and proposed novel pathways for early diagnosis and potential therapeutic interventions, paving the way for enhanced clinical applications in Alzheimer's disease management.
Dexmedetomidine inhibits fear memory consolidation via the astrocyte-specific Srebf1-Phgdh pathway in the prelimbic prefrontal cortex.
Post-traumatic stress disorder (PTSD) develops following exposure to a traumatic event. However, effective prevention and treatments remain elusive. In this study, we report that sub-anesthetic doses of dexmedetomidine can alleviate fear in mice by inhibiting the consolidation of fear memory. Transcriptomic analysis identifies sterol regulatory element-binding protein 1 (Srebf1) as a key mediator of dexmedetomidine's effects. The potential mechanism of this involves dexmedetomidine reducing the nuclear translocation of Srebf1 specifically in prelimbic prefrontal cortex astrocytes, thereby decreasing the active transcriptional form of Srebf1. This results in the downregulation of its target gene, phosphoglycerate dehydrogenase (Phgdh). Phgdh, as the main synthetase of the N-methyl-D-aspartate receptor co-agonist D-serine, plays a crucial role in regulating synaptic stability and ultimately inhibiting the consolidation of fear memory. This work identifies the mechanism by which dexmedetomidine inhibits fear memory consolidation, providing a rationale for its preventive application and uncovering novel targets for PTSD intervention.
Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.
Cerebrotendinous xanthomatosis (CTX) is a rare, treatable bile acid synthesis disorder characterized by increased levels of cholestanol. Studies indicate that autism spectrum disorder (ASD) may be an early manifestation of CTX. Independent of CTX, disturbances in sterol and bile acid metabolism are observed in ASD. Therefore, this study aimed to estimate the prevalence of CTX in a pediatric ASD cohort using cholestanol-based screening with reflex CYP27A1 sequencing and to compare plasma sterol profiles among children with ASD. We conducted a single-center, cross-sectional study including 103 patients with ASD and 70 age-matched, normally developed children. Fasting plasma cholestanol, campesterol, stigmasterol and sitosterol were quantified by gas chromatography/mass spectrometry. Participants with cholestanol ≥ 7 µg/ml underwent CYP27A1 sequencing, and five-day dietary recalls were analyzed in 75 ASD participants. Elevated cholestanol was observed in 27 of 103 patients with ASD (26.2%) but in none of the controls (p < 0.001). No participant had biallelic pathogenic CYP27A1 variants; one heterozygous variant of uncertain significance was detected. Median concentrations of cholestanol, campesterol, sitosterol and stigmasterol were significantly higher in patients with ASD than in controls (all p ≤ 0.001), and sterol fractions were strongly correlated (cholestanol–campesterol r = 0.74, p < 0.001). In summary, no cases of CTX were identified in this cohort, suggesting that cholestanol-based screening in unselected ASD populations may have limited yield, particularly in the absence of additional clinical features suggestive of CTX. Nevertheless, the elevated plasma sterol levels in ASD patients suggest dysregulated sterol and bile acid homeostasis, warranting further investigation. The online version contains supplementary material available at 10.1007/s11011-026-01827-7.
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📚 EuropePMC1 artigos no totalmostrando 200
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Frontiers in immunologyResveratrol inhibits lipid deposition via JAML/Sirt1 pathway in podocytes.
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BMC microbiologyAssociation of remnant cholesterol inflammation index with future cardiovascular disease risk in patients with cardiovascular-kidney-metabolic syndrome stages 0-3.
Diabetes research and clinical practiceInsights to HDL dysfunctionality: hypothesis of exhausted HDL.
Diabetes research and clinical practiceOxytocin Attenuates Metabolic Dysfunction-associated Steatotic Liver Disease via AMPK/SREBP1c/FAS-mediated Suppression of Hepatic Lipogenesis.
Journal of clinical and translational hepatologyEvaluating the Link Between High-Density Lipoprotein-Related Inflammatory Indices and Gallstone Disease in U.S. Adults.
Mediators of inflammationLow HDL cholesterol is associated with elevated TNFR1 and TNFR2 levels in early diabetic kidney disease.
Frontiers in endocrinologyAssociations between neutrophil-to-high-density lipoprotein cholesterol ratio and albuminuria: A cross-sectional study.
The Journal of international medical researchCholesterol Lowering Alone Fails to Reverse Atherosclerotic Plaque Necrosis, Granulopoiesis, and Neurovascular Neutrophils in Middle-Aged Mice.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyLipidic contents within calcified plaques: Characteristics and response to LDL-C<55 mg/dL on multi-modality imaging.
AtherosclerosisSimvastatin Ameliorates Lipid Metabolism-Mediated Endothelial Inflammation and Tight Junction Impairment in Chronic Cerebral Hypoperfusion.
Neuromolecular medicineLipid Keratopathy in Sitosterolemia: A Case Report and Review of The Ophthalmic Manifestations.
CorneaA Two Birds with One Stone Strategy: Sialic Acid-Modified Pitavastatin Liposomes for Combating Atherosclerosis and Tumors.
Molecular pharmaceuticsA phenome-wide hunt for risk factors of Alzheimer's disease: from metabolic clues to neuroimaging evidence.
Journal of translational medicineAnalysis of metabolic status and risk factors of small for gestational age children with catch-up growth in East China.
BMC pediatricsUnraveling the mechanistic links between blood pressure regulation and calcium-magnesium homeostasis: Insights into hypertension, hyperparathyroidism, and mineral disorders.
PloS oneThe Role of Testosterone in Atherosclerosis: View From Cell Cultures and Animal Models.
Journal of cardiovascular translational researchDownmodulation of cholesterol biosynthetic network governs activation of the innate immune response to Japanese encephalitis virus infection.
Journal of virologyPaeoniflorin Ameliorates Metabolic Dysfunction-Associated Steatotic Liver Disease by SYK/SH3BP2 Signaling Pathway.
Research (Washington, D.C.)Therapeutic effects of vitamin D and intermittent fasting on metabolic associated steatotic liver disease in rats.
Scientific reportsGut microbiota-dependent 24-hydroxycholesterol metabolism contributes to capsaicin-induced amelioration of Alzheimer's disease-like pathology in mice.
Nature communicationsLiver specific-inhibition of LPCAT3 ameliorates metabolic dysfunction-associated steatotic liver disease.
Journal of molecular medicine (Berlin, Germany)Association between ketogenic diet and cognitive function in older adults: The mediating role of neutrophil to high-density lipoprotein cholesterol ratio.
MedicineMalassezia globosa lipidome: The dynamics of uptake and secreted lipids.
VirulenceA novel exopolysaccharide from Lactiplantibacillus plantarum H6 improves cholesterol metabolism via Muribaculum-mediated activation of the enterohepatic FXR-FGF15 axis.
Gut microbesGanoderic Acid A alleviates ulcerative colitis by inhibiting the interleukin17 signaling pathway via targeting retinoic acid-related orphan receptor alpha.
Journal of ethnopharmacologyGC-MS correlated-antiepileptic screening for probable GABA-modulator by PTZ-induced acute seizure model in Swiss albino mice and phytochemical profiling of ethanol extract of Ficus benghalensis.
Pakistan journal of pharmaceutical sciencesA genome-wide association meta-analysis of cholesterol synthesis intermediates identifies three associations for lanosterol.
EBioMedicineEffects of the FXR agonist GW4064 on metabolic disorders in db/db mice.
Laboratory animal researchBeyond bile acids synthesis: metabolomics profiling highlights extensive metabolic dysregulation and treatment response in CTX.
Orphanet journal of rare diseasesLCA and 3-oxo-LCA mitigate dietary oxysterols-induced loss of barrier function in intestinal epithelial cells.
SteroidsCenobamate beyond Epilepsy: exploring associations with vascular risk factors through serological markers.
Epilepsy & behavior : E&BUnraveling cholesterol metabolism in multiple sclerosis: Gender-specific patterns and predictive biomarkers.
Neurobiology of diseaseThe MALDI Method to Analyze the Lipid Profile, Including Cholesterol, Triglycerides and Other Lipids.
Current issues in molecular biologyEngineered macrophage-assisted atorvastatin nanotherapy for reversing foam cell formation in atherosclerosis.
Journal of materials chemistry. BMultiphasic Venture of Cholesterol Homeostasis: A Perspective on Statin Therapy.
Journal of biochemical and molecular toxicologyLncRNA TUG1 promotes hepatic lipid accumulation by targeting the miR-29a-3p/SREBP-2/HMGCR axis in MAFLD.
Functional & integrative genomicsComputational insights into oxysterols: MD and DFT applications in pharmaceutical research.
Folia medica CracoviensiaSitosterolemia due to compound heterozygous mutations in ABCG5: a case report.
Journal of medical case reportsGanoderic Acid A Modulates Enteric Neurons and Intestinal Homeostasis in Irritable Bowel Syndrome by Microbiota Sensing.
Journal of agricultural and food chemistryStructure and mechanism of the human bile acid transporter OSTα-OSTβ.
NatureLoss of hepaCAM inhibits cholesterol biosynthesis and impairs learning and memory in mice.
Brain researchThe association between high-density lipoprotein cholesterol and depressive symptoms: The moderating role of inflammation.
Journal of affective disordersFenofibrate suppresses Mycoplasma bovis infection via autophagy-mediated cholesterol regulation in bovine mammary epithelial cells and murine mammary tissue.
Frontiers in cellular and infection microbiologyBest Practices for the Nutritional Management of Infantile-Onset Lysosomal Acid Lipase Deficiency: A Case-Based Discussion.
NutrientsEconazole Exhibits In Vitro and In Vivo Efficacy Against Leishmania amazonensis.
Pharmaceuticals (Basel, Switzerland)Enhanced Qualities of High-Density Lipoproteins (HDLs) with Antioxidant Abilities Are Associated with Lower Susceptibility of Hypertension in Middle-Aged Korean Participants: Impaired HDL Quality and Hypertension Risk.
International journal of molecular sciencesFerulic Acid Attenuates Heat Stress-Induced Hepatic and Intestinal Oxidative Stress and Cholesterol Metabolism Dysregulation in Juvenile Blunt Snout Bream (Megalobrama amblycephala).
International journal of molecular sciencesCholesterol Metabolism: An Ally in the Development and Progression of Cervical Cancer.
International journal of molecular sciencesVery-Low-Density Lipoproteins Quantity but Not Composition Is Altered in Normotriglyceridemic Subjects with Elevated Lipoprotein (a) Level.
International journal of molecular sciencesComplex I Modulator BI4500 Reduces MASH by Limiting Oxidative Stress and Reprogramming Lipid Metabolism via AMPK in MCD Rats.
Antioxidants (Basel, Switzerland)Multi-Omics Analysis Identifies the Key Defence Pathways in Chinese Cabbage Responding to Black Spot Disease.
GenesLifelong cGAS deficiency leads to altered lipid storage and cholesterol homeostasis.
Biological researchDevelopment of a standardized murine model for investigating cholesterol crystallization and deposition in the gallbladder wall: effects of dietary cholesterol and pharmacological modulation.
European journal of medical researchHeteroduplex oligonucleotide technology boosts gene knockdown in cardiac and skeletal muscles.
Nucleic acids researchE2F1-driven cholesterol synthesis via the SND1/ACLY axis potentiates malignant progression in prostate cancer.
EpigenomicsACTA2 Pathogenic Variants Activating Heat Shock Factor 1 and Increasing Cholesterol Biosynthesis in Smooth Muscle Cells Predispose to Early Onset Atherosclerosis.
Circulation. Genomic and precision medicineRole of Mitochondrial Protein, mitoNEET, in Impaired Intracellular Cholesterol Metabolism-Induced Neuronal Cell Death.
Biological & pharmaceutical bulletinHepatic management of toxic sterols after acute deletion of Cyp51 from cholesterol synthesis.
The Journal of biological chemistryImmune-metabolic dysregulation and suicide risk in adolescents with major depressive disorder: a cross-sectional study.
BMC psychiatryTREM2 expression level is critical for microglial state, metabolic capacity and efficacy of TREM2 agonism.
Nature communicationsNatural polyketide enterocin inhibits ASGR1 to enhance cholesterol efflux and regulate hepatic lipid metabolism.
Metabolism: clinical and experimentalMicroRNA-96 inhibition retarded the progression of atherosclerotic plaques via FOXO1/CYP7A1 mediated cholesterol-bile acid metabolism pathway.
Expert opinion on therapeutic targetsDevelopment and validation of a logistic regression model for predicting menstrual irregularity using LDL-C and age in reproductive-aged women: An analysis of NHANES Data.
MedicineThe many faces of cholesterol in autosomal dominant polycystic kidney disease.
Kidney internationalMolecular mechanisms of Aflatoxin B1-Induced renal injury and the detoxification potential of Taraxasterol: A review.
Chemico-biological interactionsAutophagy in lipid metabolism.
Advances in clinical chemistryInsights into the Destabilizing Effect of Fluorinated Ethanol on Biomimetic Membranes.
The journal of physical chemistry. BDifferent response of plaque regression following achievement of LDL-C <1.8 mmol/L in obese and nonobese patients with diabetes and coronary artery disease: OPTIMAL sub-analysis.
Journal of clinical lipidologySREBP1-mediated lipid metabolism reprogramming drives malignant progression and therapeutic resistance in HPSCC organoids and animal models.
Biomaterials scienceStigmasterol Glucoside, a Phytosterol Glycoside, Mitigates Systemic Inflammatory Response Syndrome and Liver Injury.
Phytotherapy research : PTRRole of Oxysterol-Binding Protein Family in Cholesterol Metabolism and Cancer Progression: A Review.
Medical science monitor : international medical journal of experimental and clinical researchGut microbiota, lipid metabolism, and PCOS: A Mendelian randomization and mediation analysis.
MedicineSevere hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.
Journal of clinical lipidologyMetabolic activation of lumisterol to biologically active metabolites and their mechanism of action.
Biochemical pharmacologySynthesis of benzo[e][1,2,4]thiadiazine 1,1-dioxide derivatives and its potential applications in atherosclerosis.
Bioorganic & medicinal chemistry lettersUltrabright Carbon Dots as an Emerging Fluorescent Probe for Multivalent Labeling and Highly Sensitive Detection of Extracellular Vesicles.
ACS applied materials & interfacesDaucosterol Targets PFKFB3 to Mitigates Sepsis-Induced Acute Lung Injury by Inhibiting Glycolysis and M1 Macrophage Polarization.
Chemical biology & drug designEffect of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Inhibitors on Lipoprotein(a) Levels: An Umbrella Review of Meta-analyses of Randomized Controlled Trials.
DrugsCausal relationships of lipid metabolism in diabetic nephropathy risk: A two-sample Mendelian randomization study.
Nutrition, metabolism, and cardiovascular diseases : NMCDEndothelial JMJD1C drives pathological ocular neovascularization by activating SREBF2-dependent cholesterol biosynthesis.
Free radical biology & medicineA new type of lipid nanoparticles with sphingomyelin-induced active lipid raft structures for improved mRNA cellular uptake.
Journal of controlled release : official journal of the Controlled Release SocietyDeterminants of circulating PCSK9 levels and the efficacy of PCSK9 inhibitor therapies in chronic kidney disease: a systematic review.
European journal of clinical pharmacologyAn oral, liver-restricted LXR inverse agonist for dyslipidemia: preclinical development and phase 1 trial.
Nature medicinePrecision approach in apoA-I infusion trials: When CSL112 may actually work.
Journal of clinical lipidologySkeletal Muscle Mass Modifies the Prognostic Impact of LDL Cholesterol in Chronic Heart Failure.
Journal of cachexia, sarcopenia and muscleFueling Disease: ACSS2 in Obesity-Associated Metabolic Disorders and Cancer Progression.
Obesity reviews : an official journal of the International Association for the Study of ObesityAntisense oligonucleotide targeting TARDBP-EGFR splicing axis inhibits progression of oral squamous cell carcinoma through ABCA1-regulated cholesterol efflux.
International journal of oral scienceSitosterolemia Presenting as Lipid Keratopathy and Xanthomas.
PediatricsThe metabolic mood: Cholesterol homeostasis as a convergence point for depression risk.
Developmental cellCholesterol Deficiency Directs Autophagy-Dependent Secretion of Extracellular Vesicles.
Journal of extracellular vesiclesCholesterol-lowering effects of oats induced by microbially produced phenolic metabolites in metabolic syndrome: a randomized controlled trial.
Nature communicationsLipid-Lowering Therapies in Patients with Chronic Kidney Disease: A Perspective on High-Density Lipoprotein Cholesterol.
DrugsLow-dose galactose rebalances HBP-mTORC1-SREBP-1c signaling to suppress hepatic lipogenesis and protect against early-stage alcohol-related liver disease.
American journal of physiology. Gastrointestinal and liver physiologyNovel metabolic syndrome subgroups and their association with cardiovascular outcomes: A data-driven cluster analysis of the UK Biobank.
Diabetes, obesity & metabolismINSIG1 parallel substitution drives lipid/sterol metabolic plasticity mediating desert adaptation in ungulates.
Communications biologyHematological, biochemical and hormonal profiles in dogs with obesity-related metabolic disorder.
The Journal of veterinary medical scienceMyeloid Fmr1 deficiency in mice results in reduced serum cholesterol and altered bile pathway gene expression.
PloS oneHepatocyte SAMHD1 Deficiency Attenuates Hepatic Steatosis via Suppression of SREBP Activation in a Mouse Model of Metabolic-Associated Steatotic Liver Disease.
International journal of biological sciencesPredictive value of remnant cholesterol inflammatory index for cardiovascular-kidney-metabolic syndrome progression: A prospective cohort study.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- The Inherited Basis of Coronary Artery Disease.
- Statin prescription rates for prevention of atherosclerotic cardiovascular disease in adults 40-75 years old with type 1 diabetes.
- Transcriptomic Insights Into Alzheimer's Disease: Differentially Expressed Genes and Cholesterol Metabolism.
- Dexmedetomidine inhibits fear memory consolidation via the astrocyte-specific Srebf1-Phgdh pathway in the prelimbic prefrontal cortex.
- Plasma sterol profiling in autism spectrum disorder: insights from cerebrotendinous xanthomatosis screening and beyond.
- Coumarin derivatives as new chemotype targeting leishmanial sterol biosynthesis pathway proteins: an integrated in vitro, mechanistic, and in silico evaluation.
- Sterol pathway disruption in pregnancy: a link to autism.
- Sterol Endoperoxides and Their Antileishmanial Effects: Influence on Viability, Oxygen Metabolism and Sterol Synthesis.
- Transcriptomic Insights into Sre1-Related Regulatory Responses to Hypoxia, Cobalt Chloride, and Clotrimazole in Phaffia rhodozyma.
- A sterol reductase responsible for the unusual 8(14)-unsaturation in bacterial sterol production and degradation.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79195(Orphanet)
- MONDO:0019240(MONDO)
- GARD:18969(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55788560(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar