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3-hydroxy-2-methylbutyryl-coa dehydrogenase deficiency
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
acetyl-coa c-acetyltransferase deficiency
An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.
acetyl-coa c-acetyltransferase deficiency
[Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in Argentina]
acetyl-coa c-acyltransferase deficiency
3-Ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.
acetyl-coa c-acyltransferase deficiency
3-Ketothiolase deficiency: heterogeneity in a defect of mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients.
acetyl-coa c-acyltransferase deficiency
3-Ketothiolase deficiency: molecular heterogeneity of the enzyme defect and cloning of the cDNA.
acetyl-coa c-acyltransferase deficiency
6-Methyluracil excretion in 2-methylacetoacetyl-CoA thiolase deficiency and in two children with an unexplained recurrent ketoacidaemia.
acetyl-coa c-acyltransferase deficiency
A case of beta-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
acetyl-coa c-acyltransferase deficiency
A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis.
acetyl-coa c-acyltransferase deficiency
A Novel Mutation of Beta-ketothiolase Deficiency: The First Report from Iran and Review of Literature.
acetyl-coa c-acyltransferase deficiency
A treatable new cause of chorea: Beta-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
A variant form of 2-methyl-3-hydroxybutyric and 2-methylacetoacetic aciduria.
acetyl-coa c-acyltransferase deficiency
Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism.
acetyl-coa c-acyltransferase deficiency
Beta ketothiolase deficiency brought with lethargy: Case report.
acetyl-coa c-acyltransferase deficiency
Beta-ketothiolase deficiency and pregnancy.
acetyl-coa c-acyltransferase deficiency
Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".
acetyl-coa c-acyltransferase deficiency
Beta-ketothiolase deficiency in a family confirmed by in vitro enzymatic assays in fibroblasts.
acetyl-coa c-acyltransferase deficiency
Beta-ketothiolase deficiency in a Malaysian infant.
acetyl-coa c-acyltransferase deficiency
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
acetyl-coa c-acyltransferase deficiency
beta-Ketothiolase deficiency with favourable evolution.
acetyl-coa c-acyltransferase deficiency
Beta-ketothiolase deficiency. A case report.
acetyl-coa c-acyltransferase deficiency
Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.
acetyl-coa c-acyltransferase deficiency
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
acetyl-coa c-acyltransferase deficiency
Bile acid profiles in peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins.
acetyl-coa c-acyltransferase deficiency
Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.
acetyl-coa c-acyltransferase deficiency
Brief Report: Delayed Diagnosis of Treatable Inborn Errors of Metabolism in Children with Autism and Other Neurodevelopmental Disorders.
acetyl-coa c-acyltransferase deficiency
C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.
acetyl-coa c-acyltransferase deficiency
Calcium levulinate medication. A pitfall in the diagnosis of organic acidurias.
acetyl-coa c-acyltransferase deficiency
Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.
acetyl-coa c-acyltransferase deficiency
Characterization of enzymatic deficiencies of branched chain amino-acid catabolism in human fibroblasts by genetic complementation.
acetyl-coa c-acyltransferase deficiency
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.
acetyl-coa c-acyltransferase deficiency
Clinical and biochemical features of fatty acid oxidation disorders.
acetyl-coa c-acyltransferase deficiency
Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.
acetyl-coa c-acyltransferase deficiency
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
acetyl-coa c-acyltransferase deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
acetyl-coa c-acyltransferase deficiency
Congestive cardiomyopathy associated with beta-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
CT and MR of the brain in the diagnosis of organic acidemias. Experiences from 107 patients.
acetyl-coa c-acyltransferase deficiency
Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Elovl6 Deficiency Improves Glycemic Control in Diabetic db/db Mice by Expanding ?-Cell Mass and Increasing Insulin Secretory Capacity.
acetyl-coa c-acyltransferase deficiency
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting.
acetyl-coa c-acyltransferase deficiency
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
acetyl-coa c-acyltransferase deficiency
Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
acetyl-coa c-acyltransferase deficiency
Further analysis of mutant thiolase protein in fibroblasts from a Japanese boy with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Heterogeneity of defects in mitochondrial acetoacetyl-CoA thiolase biosynthesis in fibroblasts from four patients with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Immunochemical studies of cultured fibroblasts from a patient with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Induction of fetal hemoglobin in the presence of increased 3-hydroxybutyric acid associated with beta-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia.
acetyl-coa c-acyltransferase deficiency
Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats.
acetyl-coa c-acyltransferase deficiency
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
acetyl-coa c-acyltransferase deficiency
Ketoacidotic crisis after vaccination in a girl with beta-ketothiolase deficiency: a case report.
acetyl-coa c-acyltransferase deficiency
Macrophage elovl6 deficiency ameliorates foam cell formation and reduces atherosclerosis in low-density lipoprotein receptor-deficient mice.
acetyl-coa c-acyltransferase deficiency
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India.
acetyl-coa c-acyltransferase deficiency
Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
acetyl-coa c-acyltransferase deficiency
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency and beta-ketothiolase deficiency: two case reports and reflections of congenital ketone body metabolism disorder.
acetyl-coa c-acyltransferase deficiency
Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Molecular basis of 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Molecular basis of 3-ketothiolase deficiency: detection of gene mutations and expression of mutant cDNAs of mitochondrial acetoacetyl-CoA thiolase.
acetyl-coa c-acyltransferase deficiency
Molecular basis of 3-ketothiolase deficiency: identification of an AG to AC substitution at the splice acceptor site of intron 10 causing exon 11 skipping.
acetyl-coa c-acyltransferase deficiency
Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
acetyl-coa c-acyltransferase deficiency
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses.
acetyl-coa c-acyltransferase deficiency
Molecular cloning and sequence of the complementary DNA encoding human mitochondrial acetoacetyl-coenzyme A thiolase and study of the variant enzymes in cultured fibroblasts from patients with 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Molecular cloning of cDNA for human mitochondrial acetoacetyl-CoA thiolase and molecular analysis of 3-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency.
acetyl-coa c-acyltransferase deficiency
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
acetyl-coa c-acyltransferase deficiency
NMR-based urinalysis for beta-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
Pristanic acid and phytanic acid in plasma from patients with peroxisomal disorders: stable isotope dilution analysis with electron capture negative ion mass fragmentography.
acetyl-coa c-acyltransferase deficiency
Simpler liquid-chromatographic screening for organic acid disorders.
acetyl-coa c-acyltransferase deficiency
Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
acetyl-coa c-acyltransferase deficiency
Structure and expression of the human mitochondrial acetoacetyl-CoA thiolase-encoding gene.
acetyl-coa c-acyltransferase deficiency
The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.
acetyl-coa c-acyltransferase deficiency
The occurrence of substituted 3-methyl-3-hydroxyglutaric acids in urine in propionic acidaemia and in beta-ketothiolase deficiency.
acetyl-coa c-acyltransferase deficiency
The urinary excretion of ethylmalonic acid: what level requires further attention?
acetyl-coa c-acyltransferase deficiency
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.
acetyl-coa c-acyltransferase deficiency
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
acetyl-coa c-acyltransferase deficiency
Two cases of beta-ketothiolase deficiency: a comparison.
acetyl-coa c-acyltransferase deficiency
Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China.
acetyl-coa c-acyltransferase deficiency
[3-ketoacyl-CoA thiolase deficiency]
acetyl-coa c-acyltransferase deficiency
[A case of beta-ketothiolase deficiency]
acetyl-coa c-acyltransferase deficiency
[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency].
acetyl-coa c-acyltransferase deficiency
[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia]
acetyl-coa c-acyltransferase deficiency
[beta-Ketothiolase deficiency]
acetyl-coa c-acyltransferase deficiency
[Medium-chain 3-ketoacyl-CoA thiolase deficiency]
acetyl-coa c-acyltransferase deficiency
[Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in Argentina]
acetyl-coa c-acyltransferase deficiency
[Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency].
acetyl-coa c-acyltransferase deficiency
[Short-chain 3-ketoacyl-CoA thiolase deficiency (beta-ketothiolase deficiency)]
Acidosis
3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.
Acidosis
An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.
Acidosis
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
Acidosis
MRI of Pallidal Involvement in Beta-Ketothiolase Deficiency.
Acidosis, Lactic
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
acyl-coa dehydrogenase deficiency
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
Adenocarcinoma
The Expression of HSD17B12 Is Associated with COX-2 Expression and Is Increased in High-Grade Epithelial Ovarian Cancer.
Adenoma
Altered Saturated and Monounsaturated Plasma Phospholipid Fatty Acid Profiles in Adult Males with Colon Adenomas.
Adrenoleukodystrophy
Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.
Adrenoleukodystrophy
Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids.
Adrenoleukodystrophy
Immunochemical and biochemical studies of fatty acid oxidation in fibroblasts of Zellweger and X-linked adrenoleukodystrophy patients.
Adrenoleukodystrophy
Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.
Adrenoleukodystrophy
Prenatal diagnosis of Zellweger syndrome by measurement of very long chain fatty acid (C26:0) beta-oxidation in cultured chorionic villous fibroblasts: implications for early diagnosis of other peroxisomal disorders.
Angina, Stable
Trimetazidine in geriatric patients with stable angina pectoris: the tiger study.
Anosmia
Elovl5 Expression in the Central Nervous System of the Adult Mouse.
Aortic Valve Disease
Deciphering the gene expression profile of peroxisome proliferator-activated receptor signaling pathway in the left atria of patients with mitral regurgitation.
Aphasia
Developing a clinician-friendly aphasia test.
Ataxia
Atxn2-CAG100-KnockIn mouse spinal cord shows progressive TDP43 pathology associated with cholesterol biosynthesis suppression.
Ataxia
Elovl5 Expression in the Central Nervous System of the Adult Mouse.
Atherosclerosis
Crucial Role of Elovl6 in Chondrocyte Growth and Differentiation during Growth Plate Development in Mice.
Atherosclerosis
Macrophage elovl6 deficiency ameliorates foam cell formation and reduces atherosclerosis in low-density lipoprotein receptor-deficient mice.
Atherosclerosis
Vascular gene expression in mice overexpressing human endothelin-1 targeted to the endothelium.
Biotinidase Deficiency
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Brain Diseases, Metabolic
Metabolic encephalopathy in beta-ketothiolase deficiency: The first report from India.
Breast Neoplasms
Effect of the Expression of ELOVL5 and IGFBP6 Genes on the Metastatic Potential of Breast Cancer Cells.
Breast Neoplasms
Elovl6 is a poor prognostic predictor in breast cancer.
Breast Neoplasms
Plasmalogen Deficiency and Overactive Fatty Acid Elongation Biomarkers in Serum of Breast Cancer Patients Pre- and Post-Surgery-New Insights on Diagnosis, Risk Assessment, and Disease Mechanisms.
Breast Neoplasms
Transcriptome Guided Drug Combination Suppresses Proliferation of Breast Cancer Cells.
Carcinoma, Hepatocellular
Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines.
Carcinoma, Hepatocellular
Decreased expression levels of ELOVL6 indicate poor prognosis in hepatocellular carcinoma.
Carcinoma, Hepatocellular
Elovl6 is a negative clinical predictor for liver cancer and knockdown of Elovl6 reduces murine liver cancer progression.
Carcinoma, Hepatocellular
Induction of the three peroxisomal beta-oxidation enzymes is synergistically regulated by dexamethasone and fatty acids, and counteracted by insulin in Morris 7800C1 hepatoma cells in culture.
Cardiomyopathy, Dilated
Congestive cardiomyopathy associated with beta-ketothiolase deficiency.
carnitine o-palmitoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Cerebellar Ataxia
Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family.
Chondrodysplasia Punctata
Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor.
Chondrodysplasia Punctata
Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts.
Chondrodysplasia Punctata, Rhizomelic
Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.
Chondrodysplasia Punctata, Rhizomelic
Identification of the peroxisomal beta-oxidation enzymes involved in the degradation of long-chain dicarboxylic acids.
Chondrodysplasia Punctata, Rhizomelic
Peroxisomes of normal morphology but deficient in 3-oxoacyl-CoA thiolase in rhizomelic chondrodysplasia punctata fibroblasts.
Chondrodysplasia Punctata, Rhizomelic
Prenatal diagnosis of peroxisomal disorders. Biochemical and immunocytochemical studies on peroxisomes in human amniocytes.
Chondrodysplasia Punctata, Rhizomelic
Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme.
Chorea
A treatable new cause of chorea: Beta-ketothiolase deficiency.
Colorectal Neoplasms
Altered Saturated and Monounsaturated Plasma Phospholipid Fatty Acid Profiles in Adult Males with Colon Adenomas.
Colorectal Neoplasms
Methylation associated transcriptional repression of ELOVL5 in novel colorectal cancer cell lines.
Coronary Artery Disease
Trimetazidine in conditions other than coronary disease, old drug, new tricks?
Crohn Disease
FADS2 and ELOVL6 mutation frequencies in Japanese Crohn's disease patients.
Cystic Fibrosis
Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.
Deglutition Disorders
Elovl5 Expression in the Central Nervous System of the Adult Mouse.
Dermatitis
Elovl6 regulates mechanical damage-induced keratinocyte death and skin inflammation.
Diabetes Mellitus
Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus.
Diabetes Mellitus
Genome-wide methylation analysis identifies ELOVL5 as an epigenetic biomarker for the risk of type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Genome-wide methylation analysis identifies ELOVL5 as an epigenetic biomarker for the risk of type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Lead discovery for mammalian elongation of long chain fatty acids family 6 using a combination of high-throughput fluorescent-based assay and RapidFire mass spectrometry assay.
Diabetes Mellitus, Type 2
Modulation of palmitate-induced endoplasmic reticulum stress and apoptosis in pancreatic {beta}-cells by stearoyl-CoA desaturase and Elovl6.
Diabetes Mellitus, Type 2
Risk of diabetes associated with fatty acids in the de novo lipogenesis pathway is independent of insulin sensitivity and response: the Insulin Resistance Atherosclerosis Study (IRAS).
Dysarthria
Elovl5 Expression in the Central Nervous System of the Adult Mouse.
Dystocia
Deciphering signature of selection affecting beef quality traits in Angus cattle.
Eczema
Effect of gestational oily fish intake on the risk of allergy in children may be influenced by FADS1/2, ELOVL5 expression and DNA methylation.
Fatty Liver
Absence of Elovl6 attenuates steatohepatitis but promotes gallstone formation in a lithogenic diet-fed Ldlr(-/-) mouse model.
Fatty Liver
Crucial Role of Elovl6 in Chondrocyte Growth and Differentiation during Growth Plate Development in Mice.
Fatty Liver
Deletion of ELOVL5 leads to fatty liver through activation of SREBP-1c in mice.
Fatty Liver
Deletion of ELOVL6 blocks the synthesis of oleic acid but does not prevent the development of fatty liver or insulin resistance.
Fatty Liver
Dietary supplementation with myo-inositol reduces high-fructose diet-induced hepatic ChREBP binding and acetylation of histones H3 and H4 on the Elovl6 gene in rats.
Fatty Liver
Sexually Dimorphic Genome-Wide Binding of Retinoid X Receptor alpha (RXR?) Determines Male-Female Differences in the Expression of Hepatic Lipid Processing Genes in Mice.
Fatty Liver
[SREBP-1c and Elovl6 as Targets for Obesity-related Disorders].
Galactosemias
[Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children]
Gallstones
Absence of Elovl6 attenuates steatohepatitis but promotes gallstone formation in a lithogenic diet-fed Ldlr(-/-) mouse model.
Genetic Diseases, Inborn
A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis.
Genetic Diseases, Inborn
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
Genetic Diseases, Inborn
Deciphering signature of selection affecting beef quality traits in Angus cattle.
Germinoma
Pediatric primary central nervous system germ cell tumors of different prognosis groups show characteristic miRNome traits and chromosome copy number variations.
Glaucoma
CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies.
Glaucoma
Dogs and Humans Share a Common Susceptibility Gene SRBD1 for Glaucoma Risk.
Glaucoma
Genome-wide Association Study of Normal Tension Glaucoma: Common Variants in SRBD1 and ELOVL5 Contribute to Disease Susceptibility.
Glaucoma, Open-Angle
Association between SRBD1 and ELOVL5 gene polymorphisms and primary open-angle glaucoma.
Glaucoma, Open-Angle
CDKN2B polymorphism is associated with primary open-angle glaucoma (POAG) in the Afro-Caribbean population of Barbados, West Indies.
Glioma
An Adult Drosophila Glioma Model for Studying Pathometabolic Pathways of Gliomagenesis.
Glioma
Transcriptomic Analysis of Glioma Based on IDH Status Identifies ACAA2 as a Prognostic Factor in Lower Grade Glioma.
Glucose Intolerance
Hepatic overexpression of dominant negative Mlx improves metabolic profile in diabetes-prone C57BL/6J mice.
glutaryl-coa dehydrogenase (etf) deficiency
Characterization of new diagnostic acylcarnitines in patients with beta-ketothiolase deficiency and glutaric aciduria type I using mass spectrometry.
Gout
Epidermal growth factor gene is a newly identified candidate gene for gout.
Heart Failure
Modulation of fatty acids oxidation in heart failure by selective pharmacological inhibition of 3-ketoacyl coenzyme-A thiolase.
Homocystinuria
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Homocystinuria
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
hydroxymethylglutaryl-coa lyase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
hydroxymethylglutaryl-coa synthase deficiency
Clinical and biochemical features of fatty acid oxidation disorders.
hydroxymethylglutaryl-coa synthase deficiency
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency and beta-ketothiolase deficiency: two case reports and reflections of congenital ketone body metabolism disorder.
Hyperglycemia
Deletion of ELOVL6 blocks the synthesis of oleic acid but does not prevent the development of fatty liver or insulin resistance.
Hyperglycemia
Elevated hepatic fatty acid elongase-5 activity corrects dietary fat-induced hyperglycemia in obese C57BL/6J mice.
Hyperinsulinism
Deletion of ELOVL6 blocks the synthesis of oleic acid but does not prevent the development of fatty liver or insulin resistance.
Hyperlipidemias
Swertiamarin decreases lipid accumulation dependent on 3-ketoacyl-coA thiolase.
Hypersensitivity
Effect of gestational oily fish intake on the risk of allergy in children may be influenced by FADS1/2, ELOVL5 expression and DNA methylation.
Hypoglycemia
Comparative frequency and severity of hypoglycemia in selected organic acidemias, branched chain amino acidemia, and disorders of fructose metabolism.
Idiopathic Pulmonary Fibrosis
Deranged fatty acid composition causes pulmonary fibrosis in Elovl6-deficient mice.
Infections
Human Cytomegalovirus Uses a Host Stress Response To Balance the Elongation of Saturated/Monounsaturated and Polyunsaturated Very-Long-Chain Fatty Acids.
Infections
The antiviral sirtuin 3 bridges protein acetylation to mitochondrial integrity and metabolism during human cytomegalovirus infection.
Infertility, Male
Genetically engineered cytoplasmic male sterility.
Insulin Resistance
5,5-dimethyl-3-(5-methyl-3-oxo-2-phenyl-2,3-dihydro-1H-pyrazol-4-yl)-1-phenyl-3-(trifluoromethyl)-3,5,6,7-tetrahydro-1H-indole-2,4-dione, A Potent Inhibitor for Mammalian ELOVL6: Examination of Its Potential Utility As A Pharmacological Tool.
Insulin Resistance
Absence of Elovl6 attenuates steatohepatitis but promotes gallstone formation in a lithogenic diet-fed Ldlr(-/-) mouse model.
Insulin Resistance
Adipose tissue fatty acid chain length and mono-unsaturation increases with obesity and insulin resistance.
Insulin Resistance
Crucial role of a long-chain fatty acid elongase, Elovl6, in obesity-induced insulin resistance.
Insulin Resistance
Crucial Role of Elovl6 in Chondrocyte Growth and Differentiation during Growth Plate Development in Mice.
Insulin Resistance
Deletion of ELOVL6 blocks the synthesis of oleic acid but does not prevent the development of fatty liver or insulin resistance.
Insulin Resistance
Discovery and characterization of a novel potent, selective and orally active inhibitor for mammalian ELOVL6.
Insulin Resistance
Elovl6 Deficiency Improves Glycemic Control in Diabetic db/db Mice by Expanding ?-Cell Mass and Increasing Insulin Secretory Capacity.
Insulin Resistance
ELOVL6 genetic variation is related to insulin sensitivity: a new candidate gene in energy metabolism.
Insulin Resistance
Elovl6 is a negative clinical predictor for liver cancer and knockdown of Elovl6 reduces murine liver cancer progression.
Insulin Resistance
Elovl6 promotes nonalcoholic steatohepatitis in mice and humans.
Insulin Resistance
Elovl6: a new player in fatty acid metabolism and insulin sensitivity.
Insulin Resistance
Genetic analysis of the ELOVL6 gene polymorphism associated with type 2 diabetes mellitus.
Insulin Resistance
Hepatocyte Elovl6 determines ceramide acyl-chain length and hepatic insulin sensitivity in mice.
Insulin Resistance
High-throughput assay for long chain fatty acyl-CoA elongase using homogeneous scintillation proximity format.
Insulin Resistance
Identification and characterization of a selective radioligand for ELOVL6.
Insulin Resistance
Interaction between hormone-sensitive lipase and ChREBP in fat cells controls insulin sensitivity.
Insulin Resistance
Macrophage elovl6 deficiency ameliorates foam cell formation and reduces atherosclerosis in low-density lipoprotein receptor-deficient mice.
Insulin Resistance
Mouse Elovl-6 promoter is an SREBP target.
Insulin Resistance
Novel qualitative aspects of tissue fatty acids related to metabolic regulation: Lessons from Elovl6 knockout.
Insulin Resistance
Risk of diabetes associated with fatty acids in the de novo lipogenesis pathway is independent of insulin sensitivity and response: the Insulin Resistance Atherosclerosis Study (IRAS).
Insulin Resistance
Role of fatty acid elongase Elovl6 in the regulation of energy metabolism and pathophysiological significance in diabetes.
Insulin Resistance
The effect of LXR?, ChREBP and Elovl6 in liver and white adipose tissue on medium- and long-chain fatty acid diet-induced insulin resistance.
Insulin Resistance
Treatment with the 3-ketoacyl-CoA thiolase inhibitor trimetazidine does not exacerbate whole body insulin resistance in obese mice.
Insulin Resistance
Up-regulation of stearoyl-CoA desaturase 1 and elongase 6 genes expression in rat lipogenic tissues by chronic food restriction and chronic food restriction/refeeding.
Insulin Resistance
[SREBP-1c and Elovl6 as Targets for Obesity-related Disorders].
Ketosis
A Novel Mutation in ACAT1 Causing Beta-Ketothiolase Deficiency in a 4-Year-Old Sri Lankan Boy with Metabolic Ketoacidosis.
Ketosis
An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.
Ketosis
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
Ketosis
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
Ketosis
Inborn errors of isoleucine degradation: a review.
Ketosis
Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats.
Ketosis
NMR-based urinalysis for beta-ketothiolase deficiency.
Ketosis
[Beta-ketothiolase deficiency: a case of ketoacidosis with hyperglycinemia]
Leukemia, Myeloid, Acute
A novel t(4;16)(q25;q23.1) associated with EGF and ELOVL6 deregulation in acute myeloid leukemia.
Liver Diseases
Sexually Dimorphic Genome-Wide Binding of Retinoid X Receptor alpha (RXR?) Determines Male-Female Differences in the Expression of Hepatic Lipid Processing Genes in Mice.
Liver Neoplasms
Elovl6 is a negative clinical predictor for liver cancer and knockdown of Elovl6 reduces murine liver cancer progression.
long-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients.
long-chain-3-hydroxyacyl-coa dehydrogenase deficiency
Neonatal screening for defects of the mitochondrial trifunctional protein.
Low Tension Glaucoma
Genome-wide Association Study of Normal Tension Glaucoma: Common Variants in SRBD1 and ELOVL5 Contribute to Disease Susceptibility.
Lymphatic Metastasis
Elovl6 is a poor prognostic predictor in breast cancer.
Maple Syrup Urine Disease
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Maple Syrup Urine Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
medium-chain acyl-coa dehydrogenase deficiency
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
medium-chain acyl-coa dehydrogenase deficiency
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting.
medium-chain acyl-coa dehydrogenase deficiency
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
medium-chain acyl-coa dehydrogenase deficiency
Policy issues related to expanded newborn screening: a review of three genetic/metabolic disorders.
medium-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Metabolic Diseases
Global expression and CpG methylation analysis of primary endothelial cells before and after TNFa stimulation reveals gene modules enriched in inflammatory and infectious diseases and associated DMRs.
Metabolic Diseases
Hepatocyte Elovl6 determines ceramide acyl-chain length and hepatic insulin sensitivity in mice.
Metabolic Syndrome
Novel qualitative aspects of tissue fatty acids related to metabolic regulation: Lessons from Elovl6 knockout.
Metabolism, Inborn Errors
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry.
Metabolism, Inborn Errors
NMR-based urinalysis for beta-ketothiolase deficiency.
methylcrotonoyl-coa carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Mitochondrial Diseases
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
Mucopolysaccharidoses
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Simpler liquid-chromatographic screening for organic acid disorders.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
The urinary excretion of ethylmalonic acid: what level requires further attention?
Multiple Carboxylase Deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Multiple Myeloma
The fatty acid elongase ELOVL6 regulates bortezomib resistance in multiple myeloma.
Myocardial Ischemia
["Persistent" angina: rationale for a metabolic approach]
Neoplasm Metastasis
Effect of the Expression of ELOVL5 and IGFBP6 Genes on the Metastatic Potential of Breast Cancer Cells.
Neoplasm Metastasis
ELOVL5 is a critical and targetable fatty acid elongase in prostate cancer.
Neoplasm Metastasis
Elovl6 is a poor prognostic predictor in breast cancer.
Neoplasms
A distinct function of the retinoblastoma protein in the control of lipid composition identified by lipidomic profiling.
Neoplasms
ACAA1 Is a Predictive Factor of Survival and Is Correlated With T Cell Infiltration in Non-Small Cell Lung Cancer.
Neoplasms
Decreased expression levels of ELOVL6 indicate poor prognosis in hepatocellular carcinoma.
Neoplasms
Differences in elongation of very long chain fatty acids and fatty acid metabolism between triple-negative and hormone receptor-positive breast cancer.
Neoplasms
Effect of the Expression of ELOVL5 and IGFBP6 Genes on the Metastatic Potential of Breast Cancer Cells.
Neoplasms
ELOVL5 is a critical and targetable fatty acid elongase in prostate cancer.
Neoplasms
Elovl6 is a negative clinical predictor for liver cancer and knockdown of Elovl6 reduces murine liver cancer progression.
Neoplasms
Elovl6 is a poor prognostic predictor in breast cancer.
Neoplasms
Integrated transcriptomic analysis of distance-related field cancerization in rectal cancer patients.
Neoplasms
Methylation associated transcriptional repression of ELOVL5 in novel colorectal cancer cell lines.
Neoplasms
Phospholipid profiling identifies acyl chain elongation as a ubiquitous trait and potential target for the treatment of lung squamous cell carcinoma.
Neoplasms
Plasmalogen Deficiency and Overactive Fatty Acid Elongation Biomarkers in Serum of Breast Cancer Patients Pre- and Post-Surgery-New Insights on Diagnosis, Risk Assessment, and Disease Mechanisms.
Neoplasms
Proteomic and lipidomic signatures of lipid metabolism in NASH-associated hepatocellular carcinoma.
Neoplasms
The Expression of HSD17B12 Is Associated with COX-2 Expression and Is Increased in High-Grade Epithelial Ovarian Cancer.
Neoplasms
[Expression and clinical significance of ELOVL6 gene in high-grade serous ovarian carcinoma].
Neuroblastoma
Prognostic significance of MYCN related genes in pediatric neuroblastoma: a study based on TARGET and GEO datasets.
Neurologic Manifestations
3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.
Non-alcoholic Fatty Liver Disease
Elovl6 promotes nonalcoholic steatohepatitis in mice and humans.
Non-alcoholic Fatty Liver Disease
Hepatocyte Elovl6 determines ceramide acyl-chain length and hepatic insulin sensitivity in mice.
Non-alcoholic Fatty Liver Disease
Lead discovery for mammalian elongation of long chain fatty acids family 6 using a combination of high-throughput fluorescent-based assay and RapidFire mass spectrometry assay.
Obesity
Adipose tissue fatty acid chain length and mono-unsaturation increases with obesity and insulin resistance.
Obesity
Deletion of ELOVL6 blocks the synthesis of oleic acid but does not prevent the development of fatty liver or insulin resistance.
Obesity
Discovery and characterization of a novel potent, selective and orally active inhibitor for mammalian ELOVL6.
Obesity
Elovl6 is a poor prognostic predictor in breast cancer.
Obesity
Elovl6: a new player in fatty acid metabolism and insulin sensitivity.
Obesity
Lead discovery for mammalian elongation of long chain fatty acids family 6 using a combination of high-throughput fluorescent-based assay and RapidFire mass spectrometry assay.
Obesity
Novel qualitative aspects of tissue fatty acids related to metabolic regulation: Lessons from Elovl6 knockout.
Obesity
Opposing effects of dietary sugar and saturated fat on cardiovascular risk factors and glucose metabolism in mitochondrially impaired mice.
Obesity
Role of fatty acid elongase Elovl6 in the regulation of energy metabolism and pathophysiological significance in diabetes.
Obesity
Treatment with the 3-ketoacyl-CoA thiolase inhibitor trimetazidine does not exacerbate whole body insulin resistance in obese mice.
Obesity
[SREBP-1c and Elovl6 as Targets for Obesity-related Disorders].
ornithine carbamoyltransferase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Ornithine Carbamoyltransferase Deficiency Disease
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Osteosarcoma
Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines.
Ovarian Neoplasms
[Expression and clinical significance of ELOVL6 gene in high-grade serous ovarian carcinoma].
peptidyl-glutamate 4-carboxylase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Peripheral Nervous System Diseases
Elovl5 Expression in the Central Nervous System of the Adult Mouse.
Peroxisomal Disorders
Molecular cloning, gene structure and expression profile of two mouse peroxisomal 3-ketoacyl-CoA thiolase genes.
Peroxisomal Disorders
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.
Peroxisomal Disorders
Pseudo infantile Refsum's disease: catalase-deficient peroxisomal particles with partial deficiency of plasmalogen synthesis and oxidation of fatty acids.
Phenylketonurias
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
Phenylketonurias
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Plasmacytoma
The fatty acid elongase ELOVL6 regulates bortezomib resistance in multiple myeloma.
Propionic Acidemia
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
Propionic Acidemia
Simpler liquid-chromatographic screening for organic acid disorders.
Propionic Acidemia
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
Propionic Acidemia
[Application of a clinical and laboratory protocol for the investigation of inborn errors of metabolism among critically ill children]
propionyl-coa carboxylase deficiency
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
propionyl-coa carboxylase deficiency
Tiglylglycine excreted in urine in disorders of isoleucine metabolism and the respiratory chain measured by stable isotope dilution GC-MS.
Prostatic Neoplasms
ELOVL5 is a critical and targetable fatty acid elongase in prostate cancer.
Prostatic Neoplasms
Maximizing RNA Loading for Gene Silencing Using Porous Silicon Nanoparticles.
Prostatic Neoplasms
Novel biomarkers for prostate cancer including noncoding transcripts.
Pulmonary Fibrosis
Deranged fatty acid composition causes pulmonary fibrosis in Elovl6-deficient mice.
Refsum Disease
Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
Refsum Disease
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.
Refsum Disease, Infantile
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.
Retinitis Pigmentosa
Baldspot/ELOVL6 is a conserved modifier of disease and the ER stress response.
Retinitis Pigmentosa
Mutation screening of three candidate genes, ELOVL5, SMAP1 and GLULD1 in autosomal recessive retinitis pigmentosa.
short-chain acyl-coa dehydrogenase deficiency
Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
short-chain acyl-coa dehydrogenase deficiency
Newborn screening with tandem mass spectrometry: 12 months' experience in NSW Australia.
short-chain acyl-coa dehydrogenase deficiency
Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
Spinocerebellar Ataxias
Clinical and Functional Characterization of a Missense ELF2 Variant in a CANVAS Family.
Spinocerebellar Ataxias
Desaturase and elongase-limiting endogenous long-chain polyunsaturated fatty acid biosynthesis.
Spinocerebellar Ataxias
Docosahexaenoic acid is a beneficial replacement treatment for spinocerebellar ataxia 38.
Spinocerebellar Ataxias
ELOVL5 mutations cause spinocerebellar ataxia 38.
Spinocerebellar Ataxias
Long-term efficacy of docosahexaenoic acid (DHA) for Spinocerebellar Ataxia 38 (SCA38) treatment: An open label extension study.
Spinocerebellar Ataxias
Therapeutic Use of Cerebellar Intermittent Theta Burst Stimulation (iTBS) in a Sardinian Family Affected by Spinocerebellar Ataxia 38 (SCA 38).
Starvation
Selection of a DGLA-producing mutant of the microalga Parietochloris incisa: I. Identification of mutation site and expression of VLC-PUFA biosynthesis genes.
Stroke
Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals.
udp-galactopyranose mutase deficiency
Inhibition of the glycine cleavage system by branched-chain amino acid metabolites.
Ventricular Dysfunction, Left
Effects of metabolic approach in diabetic patients with coronary artery disease.
Zellweger Syndrome
Aberrant subcellular localization of peroxisomal 3-ketoacyl-CoA thiolase in the Zellweger syndrome and rhizomelic chondrodysplasia punctata.
Zellweger Syndrome
Biochemical abnormalities in rhizomelic chondrodysplasia punctata.
Zellweger Syndrome
Biosynthesis and maturation of peroxisomal beta-oxidation enzymes in fibroblasts in relation to the Zellweger syndrome and infantile Refsum disease.
Zellweger Syndrome
Deficient oxidation of trihydroxycoprostanic acid in liver homogenates from patients with peroxisomal diseases.
Zellweger Syndrome
Molecular basis of Zellweger syndrome, beta-ketothiolase deficiency and mucopolysaccharidoses.
Zellweger Syndrome
Peroxisomal beta-oxidation enzyme proteins in adrenoleukodystrophy: distinction between X-linked adrenoleukodystrophy and neonatal adrenoleukodystrophy.
Zellweger Syndrome
Peroxisomal beta-oxidation enzyme proteins in the Zellweger syndrome.
Zellweger Syndrome
Plasma very long chain fatty acids in 3,000 peroxisome disease patients and 29,000 controls.
Zellweger Syndrome
Zellweger-like syndrome with detectable hepatic peroxisomes: a variant form of peroxisomal disorder.
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2.3.1.16 acetyl-CoA C-acyltransferase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
