Disease on EC 1.2.4.4 - 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)
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3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency
Classical maple syrup urine disease and brain development: principles of management and formula design.
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency
Developmental Defects of Caenorhabditis elegans Lacking Branched-chain ?-Ketoacid Dehydrogenase Are Mainly Caused by Monomethyl Branched-chain Fatty Acid Deficiency.
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency
Earwax: A potentially useful medium to identify inborn errors of metabolism?
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency
Immunoextraction of lipoamide dehydrogenase from cultured skin fibroblasts in patients with combined alpha-ketoacid dehydrogenase deficiency.
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency
Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity.
3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) deficiency
Mild inborn errors of metabolism in commonly used inbred mouse strains.
Acidosis
Acidosis, not azotemia, stimulates branched-chain, amino acid catabolism in uremic rats.
Acidosis
Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration.
Acidosis
Branched-chain amino acid catabolism in uremia: dual regulation of branched-chain alpha-ketoacid dehydrogenase by extracellular pH and glucocorticoids.
Acidosis
Branched-chain amino acid metabolism in rat muscle: abnormal regulation in acidosis.
Acidosis
Chronic metabolic acidosis accelerates whole body proteolysis and oxidation in awake rats.
Acidosis
Correction of metabolic acidosis to ameliorate wasting in chronic kidney disease: goals and strategies.
Acidosis
Glucocorticoids and acidification independently increase transcription of branched-chain ketoacid dehydrogenase subunit genes.
Acidosis
Metabolic acidosis accelerates whole body protein degradation and leucine oxidation by a glucocorticoid-dependent mechanism.
Acidosis
Metabolic acidosis and malnutrition-inflammation complex syndrome in chronic renal failure.
Acidosis
Regulation of branched-chain ketoacid dehydrogenase flux by extracellular pH and glucocorticoids.
Acidosis
Stimulation of rat-liver branched-chain alpha-keto acid dehydrogenase activity by chronic metabolic acidosis.
Acidosis
Tissue-specific responses of branched-chain alpha-ketoacid dehydrogenase activity in metabolic acidosis.
argininosuccinate lyase deficiency
Earwax: A potentially useful medium to identify inborn errors of metabolism?
Argininosuccinic Aciduria
Earwax: A potentially useful medium to identify inborn errors of metabolism?
Autoimmune Diseases
Antimitochondrial autoantibodies of primary biliary cirrhosis as a novel probe in the study of 2-oxo acid dehydrogenases in patients with mitochondrial myopathies.
Azotemia
Acidosis, not azotemia, stimulates branched-chain, amino acid catabolism in uremic rats.
Brain Edema
Expression of mitochondrial branched-chain aminotransferase and ?-keto-acid dehydrogenase in rat brain: implications for neurotransmitter metabolism.
Brain Injuries
MRI and clinical features of maple syrup urine disease: preliminary results in 10 cases.
Breast Neoplasms
Metabolic effects of acute thiamine depletion are reversed by rapamycin in breast and leukemia cells.
Cardiomyopathy, Dilated
Abnormal expression of histocompatibility and mitochondrial antigens by cardiac tissue from patients with myocarditis and dilated cardiomyopathy.
Cardiomyopathy, Dilated
Epitope mapping of the branched chain alpha-ketoacid dehydrogenase dihydrolipoyl transacylase (BCKD-E2) protein that reacts with sera from patients with idiopathic dilated cardiomyopathy.
Congenital Abnormalities
A simple and rapid enzymatic assay for the branched-chain alpha-ketoacid dehydrogenase complex using high-performance liquid chromatography.
Diabetes Mellitus
Decreased enzyme activity and contents of hepatic branched-chain alpha-keto acid dehydrogenase complex subunits in a rat model for type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Decreased enzyme activity and contents of hepatic branched-chain alpha-keto acid dehydrogenase complex subunits in a rat model for type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Regulation of branched-chain amino acid catabolism in rat models for spontaneous type 2 diabetes mellitus.
Diabetes Mellitus, Type 2
Regulation of hepatic branched-chain ?-ketoacid dehydrogenase complex in rats fed a high-fat diet.
Diabetes Mellitus, Type 2
The pattern of plasma BCAA concentration and liver Bckdha gene expression in GK rats during T2D progression.
dihydrolipoyl dehydrogenase deficiency
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
End Stage Liver Disease
Effects of liver failure on branched-chain alpha-keto acid dehydrogenase complex in rat liver and muscle: comparison between acute and chronic liver failure.
Genetic Diseases, Inborn
Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer.
Glycogen Storage Disease Type V
Metabolism of branched-chain amino acids and ammonia during exercise: clues from McArdle's disease.
Hyperthyroidism
Experimental hyperthyroidism causes inactivation of the branched-chain alpha-ketoacid dehydrogenase complex in rat liver.
Insulin Resistance
Brain insulin lowers circulating BCAA levels by inducing hepatic BCAA catabolism.
Insulin Resistance
Effect of valine on myotube insulin sensitivity and metabolism with and without insulin resistance.
Insulin Resistance
Serum amino acid concentrations are modified by age, insulin resistance, and BCAT2 rs11548193 and BCKDH rs45500792 polymorphisms in subjects with obesity.
Insulin Resistance
The role of skeletal muscle in the pathogenesis of altered concentrations of branched-chain amino acids (valine, leucine, and isoleucine) in liver cirrhosis, diabetes, and other diseases.
Insulinoma
Glucose regulates leucine-induced insulin release and the expression of the branched chain ketoacid dehydrogenase E1 alpha subunit gene in pancreatic islets.
Intellectual Disability
Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.
Ketosis
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
Ketosis
Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.
Leukemia
Metabolic effects of acute thiamine depletion are reversed by rapamycin in breast and leukemia cells.
Liver Cirrhosis
Effects of liver failure on the enzymes in the branched-chain amino acid catabolic pathway.
Liver Cirrhosis, Biliary
Anti-mitochondrial autoantibodies of primary biliary cirrhosis as a novel probe in the study of the biosynthetic regulation of the yeast 2-oxo acid dehydrogenase complexes.
Liver Cirrhosis, Biliary
Antimitochondrial antibodies of primary biliary cirrhosis recognize dihydrolipoamide acyltransferase and inhibit enzyme function of the branched chain alpha-ketoacid dehydrogenase complex.
Liver Cirrhosis, Biliary
Antimitochondrial autoantibodies of primary biliary cirrhosis as a novel probe in the study of 2-oxo acid dehydrogenases in patients with mitochondrial myopathies.
Liver Cirrhosis, Biliary
Autoantibodies of sera from patients with primary biliary cirrhosis recognize the alpha subunit of the decarboxylase component of human branched-chain 2-oxo acid dehydrogenase complex.
Liver Cirrhosis, Biliary
Demonstration of peptide-specific and cross-reactive epitopes in proteins reacting with antimitochondrial antibodies of primary biliary cirrhosis.
Liver Cirrhosis, Biliary
Detection of autoantibodies to recombinant mitochondrial proteins in patients with primary biliary cirrhosis.
Liver Cirrhosis, Biliary
Frequency of IgG and IgM autoantibodies to four specific M2 mitochondrial autoantigens in primary biliary cirrhosis.
Liver Cirrhosis, Biliary
Inhibition of alpha-ketoglutarate dehydrogenase activity by a distinct population of autoantibodies recognizing dihydrolipoamide succinyltransferase in primary biliary cirrhosis.
Liver Cirrhosis, Biliary
Reactivity of primary biliary cirrhosis sera with a human fetal liver cDNA clone of branched-chain alpha-keto acid dehydrogenase dihydrolipoamide acyltransferase, the 52 kD mitochondrial autoantigen.
Liver Cirrhosis, Biliary
Sera from patients with tuberculosis recognize the M2a-epitope (E2-subunit of pyruvate dehydrogenase) specific for primary biliary cirrhosis.
Liver Cirrhosis, Biliary
Specific reactivity of recombinant human PDC-E1 alpha in primary biliary cirrhosis.
Liver Diseases
Phenylbutyrate exerts adverse effects on liver regeneration and amino acid concentrations in partially hepatectomized rats.
Liver Failure
Ammonia detoxification by accelerated oxidation of branched chain amino acids in brains of acute hepatic failure rats.
Liver Failure
Effects of liver failure on branched-chain alpha-keto acid dehydrogenase complex in rat liver and muscle: comparison between acute and chronic liver failure.
Liver Failure, Acute
Branched chain amino acid transaminase and branched chain alpha-ketoacid dehydrogenase activity in the brain, liver and skeletal muscle of acute hepatic failure rats.
Liver Failure, Acute
Effects of liver failure on branched-chain alpha-keto acid dehydrogenase complex in rat liver and muscle: comparison between acute and chronic liver failure.
Maple Syrup Urine Disease
4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine disease.
Maple Syrup Urine Disease
A 17-bp insertion and a Phe215----Cys missense mutation in the dihydrolipoyl transacylase (E2) mRNA from a thiamine-responsive maple syrup urine disease patient WG-34.
Maple Syrup Urine Disease
A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).
Maple Syrup Urine Disease
A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online.
Maple Syrup Urine Disease
A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino maple syrup urine disease.
Maple Syrup Urine Disease
A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease.
Maple Syrup Urine Disease
A simple and rapid enzymatic assay for the branched-chain alpha-ketoacid dehydrogenase complex using high-performance liquid chromatography.
Maple Syrup Urine Disease
A structural abnormality of E1 component of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease.
Maple Syrup Urine Disease
A T-to-A substitution in the E1 alpha subunit gene of the branched-chain alpha-ketoacid dehydrogenase complex in two cell lines derived from Menonite maple syrup urine disease patients.
Maple Syrup Urine Disease
Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.
Maple Syrup Urine Disease
alpha-keto acids accumulating in maple syrup urine disease stimulate lipid peroxidation and reduce antioxidant defences in cerebral cortex from young rats.
Maple Syrup Urine Disease
Altered kinetic properties of the branched-chain alpha-keto acid dehydrogenase complex due to mutation of the beta-subunit of the branched-chain alpha-keto acid decarboxylase (E1) component in lymphoblastoid cells derived from patients with maple syrup urine disease.
Maple Syrup Urine Disease
Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line.
Maple Syrup Urine Disease
Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration.
Maple Syrup Urine Disease
An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.
Maple Syrup Urine Disease
An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene.
Maple Syrup Urine Disease
An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene.
Maple Syrup Urine Disease
Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.
Maple Syrup Urine Disease
Analysis of gene mutations in Chinese patients with maple syrup urine disease.
Maple Syrup Urine Disease
Application of droplet digital PCR in the analysis of genome integration and organization of the transgene in BAC transgenic mice.
Maple Syrup Urine Disease
Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population.
Maple Syrup Urine Disease
Benzothiophene Carboxylate Derivatives as Novel Allosteric Inhibitors of Branched-chain ?-Ketoacid Dehydrogenase Kinase.
Maple Syrup Urine Disease
Brain amino acid requirements and toxicity: the example of leucine.
Maple Syrup Urine Disease
Branched-chain alpha-ketoacids and related acids in thiamin-deprived rats.
Maple Syrup Urine Disease
Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.
Maple Syrup Urine Disease
cDNA cloning of the E1 alpha subunit of the branched-chain alpha-keto acid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
Maple Syrup Urine Disease
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.
Maple Syrup Urine Disease
Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country.
Maple Syrup Urine Disease
Chloride-dependent inhibition of vesicular glutamate uptake by alpha-keto acids accumulated in maple syrup urine disease.
Maple Syrup Urine Disease
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Maple Syrup Urine Disease
Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.
Maple Syrup Urine Disease
Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer.
Maple Syrup Urine Disease
Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease.
Maple Syrup Urine Disease
Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
Maple Syrup Urine Disease
Definition of the mutation responsible for maple syrup urine disease in Poll Shorthorns and genotyping Poll Shorthorns and Poll Herefords for maple syrup urine disease alleles.
Maple Syrup Urine Disease
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
Maple Syrup Urine Disease
Dietary thiamin level influences levels of its diphosphate form and thiamin-dependent enzymic activities of rat liver.
Maple Syrup Urine Disease
Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
Maple Syrup Urine Disease
EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance.
Maple Syrup Urine Disease
Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
Maple Syrup Urine Disease
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
Maple Syrup Urine Disease
Erythrocyte glutathione peroxidase activity and plasma selenium concentration are reduced in maple syrup urine disease patients during treatment.
Maple Syrup Urine Disease
Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
Maple Syrup Urine Disease
Evidence that oxidative stress is increased in plasma from patients with maple syrup urine disease.
Maple Syrup Urine Disease
Expression of mitochondrial branched-chain aminotransferase and ?-keto-acid dehydrogenase in rat brain: implications for neurotransmitter metabolism.
Maple Syrup Urine Disease
Formation of L-alloisoleucine in vivo: an L-[13C]isoleucine study in man.
Maple Syrup Urine Disease
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
Maple Syrup Urine Disease
Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
Maple Syrup Urine Disease
Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population.
Maple Syrup Urine Disease
Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.
Maple Syrup Urine Disease
Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.
Maple Syrup Urine Disease
Hepatocyte Transplantation Improves Phenotype and Extends Survival in a Murine Model of Intermediate Maple Syrup Urine Disease.
Maple Syrup Urine Disease
Human mutations affecting branched chain alpha-ketoacid dehydrogenase.
Maple Syrup Urine Disease
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.
Maple Syrup Urine Disease
Ibuprofen during gestation prevents some changes in physical and reflex development in offspring in a model of hyperleucinemia and maternal inflammation.
Maple Syrup Urine Disease
Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.
Maple Syrup Urine Disease
Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease.
Maple Syrup Urine Disease
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
Maple Syrup Urine Disease
Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease.
Maple Syrup Urine Disease
Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD.
Maple Syrup Urine Disease
Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease.
Maple Syrup Urine Disease
In silico prediction of the pathogenic effect of a novel variant of BCKDHA leading to classical maple syrup urine disease identified using clinical exome sequencing.
Maple Syrup Urine Disease
Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.
Maple Syrup Urine Disease
Intracerebroventricular administration of ?-ketoisocaproic acid decreases brain-derived neurotrophic factor and nerve growth factor levels in brain of young rats.
Maple Syrup Urine Disease
Lessons from genetic disorders of branched-chain amino acid metabolism.
Maple Syrup Urine Disease
Mammalian alpha-keto acid dehydrogenase complexes: gene regulation and genetic defects.
Maple Syrup Urine Disease
Maple syrup urine disease (MSUD): screening for known mutations in Italian patients.
Maple Syrup Urine Disease
Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.
Maple Syrup Urine Disease
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.
Maple Syrup Urine Disease
Maple Syrup Urine Disease Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics.
Maple Syrup Urine Disease
Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease.
Maple Syrup Urine Disease
Maple syrup urine disease. Complete primary structure of the E1 beta subunit of human branched chain alpha-ketoacid dehydrogenase complex deduced from the nucleotide sequence and a gene analysis of patients with this disease.
Maple Syrup Urine Disease
Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.
Maple Syrup Urine Disease
Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.
Maple Syrup Urine Disease
Maple syrup urine disease: magnetic resonance imaging findings in three patients.
Maple Syrup Urine Disease
Maple syrup urine disease: mutation analysis in Turkish patients.
Maple Syrup Urine Disease
Maple syrup urine disease: the E1beta gene of human branched-chain alpha-ketoacid dehydrogenase complex has 11 rather than 10 exons, and the 3' UTR in one of the two E1beta mRNAs arises from intronic sequences.
Maple Syrup Urine Disease
Markers associated with inborn errors of metabolism of branched-chain amino acids and their relevance to upper levels of intake in healthy people: an implication from clinical and molecular investigations on maple syrup urine disease.
Maple Syrup Urine Disease
Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity.
Maple Syrup Urine Disease
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Maple Syrup Urine Disease
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Maple Syrup Urine Disease
Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.
Maple Syrup Urine Disease
Molecular basis of maple syrup urine disease: novel mutations at the E1 alpha locus that impair E1(alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex.
Maple Syrup Urine Disease
Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause maple syrup urine disease.
Maple Syrup Urine Disease
Molecular diagnosis of maple syrup urine disease: screening and identification of gene mutations in the branched-chain alpha-ketoacid dehydrogenase multienzyme complex.
Maple Syrup Urine Disease
Molecular genetic basis of maple syrup urine disease in a family with two defective alleles for branched chain acyltransferase and localization of the gene to human chromosome 1.
Maple Syrup Urine Disease
Molecular genetic characterization of maple syrup urine disease in European families.
Maple Syrup Urine Disease
Molecular genetics of maple syrup urine disease in the Turkish population.
Maple Syrup Urine Disease
Molecular phenotypes in cultured maple syrup urine disease cells. Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex.
Maple Syrup Urine Disease
Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model.
Maple Syrup Urine Disease
Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease.
Maple Syrup Urine Disease
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Maple Syrup Urine Disease
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
Maple Syrup Urine Disease
Occurrence of a 2-bp (AT) deletion allele and a nonsense (G-to-T) mutant allele at the E2 (DBT) locus of six patients with maple syrup urine disease: multiple-exon skipping as a secondary effect of the mutations.
Maple Syrup Urine Disease
Occurrence of a Tyr393----Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population.
Maple Syrup Urine Disease
Oxidative stress in plasma from maple syrup urine disease patients during treatment.
Maple Syrup Urine Disease
Practical methods to estimate whole body leucine oxidation in maple syrup urine disease.
Maple Syrup Urine Disease
Premature translation termination of the pre-E1 alpha subunit of the branched chain alpha-ketoacid dehydrogenase as a cause of maple syrup urine disease in Polled Hereford calves.
Maple Syrup Urine Disease
Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease.
Maple Syrup Urine Disease
Primary human fibroblasts from a maple syrup urine disease patient undergo apoptosis following exposure to physiological concentrations of branched chain amino acids.
Maple Syrup Urine Disease
Production and characterization of murine models of classic and intermediate maple syrup urine disease.
Maple Syrup Urine Disease
Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline.
Maple Syrup Urine Disease
Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31.
Maple Syrup Urine Disease
Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
Maple Syrup Urine Disease
Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.
Maple Syrup Urine Disease
Renal clearance of branched-chain L-amino and 2-oxo acids in maple syrup urine disease.
Maple Syrup Urine Disease
Reversion of the maple syrup urine disease phenotype of impaired branched chain alpha-ketoacid dehydrogenase complex activity in fibroblasts from an affected child.
Maple Syrup Urine Disease
Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.
Maple Syrup Urine Disease
Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.
Maple Syrup Urine Disease
Sequence of the E1 alpha subunit of branched-chain alpha-ketoacid dehydrogenase in two patients with thiamine-responsive maple syrup urine disease.
Maple Syrup Urine Disease
Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.
Maple Syrup Urine Disease
Status spongiosus of white matter in newborn Gelbvieh-cross calves.
Maple Syrup Urine Disease
Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.
Maple Syrup Urine Disease
Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.
Maple Syrup Urine Disease
Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase.
Maple Syrup Urine Disease
Three Korean Patients with Maple Syrup Urine Disease: Four Novel Mutations in the BCKDHA Gene.
Maple Syrup Urine Disease
Total branched-chain amino acids requirement in patients with maple syrup urine disease by use of indicator amino acid oxidation with L-[1-13C]phenylalanine.
Maple Syrup Urine Disease
Total parenteral nutrition therapy of toxic maple syrup urine disease.
Maple Syrup Urine Disease
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Maple Syrup Urine Disease
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of maple syrup urine disease.
Maple Syrup Urine Disease
Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease.
Maple Syrup Urine Disease
Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
Maple Syrup Urine Disease
Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).
Maple Syrup Urine Disease
Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.
Maple Syrup Urine Disease
[A classic case with maple syrup urine disease caused by compound heterozygous mutations of BCKDHB gene].
Maple Syrup Urine Disease
[Advances in the diagnosis and treatment of maple syrup urine disease: Experience in Galicia (Spain).]
Metabolic Diseases
A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).
Metabolic Diseases
An induced pluripotent stem cell line (SDQLCHi006-A) derived from a patient with maple syrup urine disease type Ib carrying compound heterozygous mutations of p.R168C and p.T322I in BCKDHB gene.
Metabolic Diseases
Maple syrup urine disease: a possible biochemical basis for the clinical heterogeneity.
Myocarditis
Epitope mapping of the branched chain alpha-ketoacid dehydrogenase dihydrolipoyl transacylase (BCKD-E2) protein that reacts with sera from patients with idiopathic dilated cardiomyopathy.
Myotoxicity
Simvastatin increases liver branched-chain ?-ketoacid dehydrogenase activity in rats fed with low protein diet.
Neoplasms
Activation of hepatic branched-chain alpha-keto acid dehydrogenase complex by tumor necrosis factor-alpha in rats.
Neoplasms
Administration of endotoxin, tumor necrosis factor, or interleukin 1 to rats activates skeletal muscle branched-chain alpha-keto acid dehydrogenase.
Neoplasms
In vivo assessment of increased oxidation of branched-chain amino acids in glioblastoma.
Neoplasms
Inhibiting BCKDK in triple negative breast cancer suppresses protein translation, impairs mitochondrial function, and potentiates doxorubicin cytotoxicity.
Neoplasms
Targeting thiamine-dependent enzymes for metabolic therapies in oral squamous cell carcinoma?
Obesity
Alloisoleucine differentiates the branched-chain aminoacidemia of Zucker and dietary obese rats.
Obesity
Dietary branched-chain amino acid restriction alters fuel selection and reduces triglyceride stores in hearts of Zucker fatty rats.
Obesity
Metabolic Fate of Branched-Chain Amino Acids During Adipogenesis, in Adipocytes From Obese Mice and C2C12 Myotubes.
Obesity
Regulation of hepatic branched-chain ?-ketoacid dehydrogenase complex in rats fed a high-fat diet.
Obesity
Serum amino acid concentrations are modified by age, insulin resistance, and BCAT2 rs11548193 and BCKDH rs45500792 polymorphisms in subjects with obesity.
Protein Deficiency
Developmental pattern of branched-chain 2-oxo acid dehydrogenase complex in rat liver and heart.
Protein Deficiency
Physiological covalent regulation of rat liver branched-chain alpha-ketoacid dehydrogenase.
Seizures
Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.
Starvation
Activation of the promoters of Arabidopsis genes for the branched-chain alpha-keto acid dehydrogenase complex in transgenic tobacco BY-2 cells under sugar starvation.
Starvation
Activity of branched-chain 2-oxo acid dehydrogenase complex in rat liver mitochondria and in rat liver.
Starvation
Effect of exercise intensity and starvation on activation of branched-chain keto acid dehydrogenase by exercise.
Starvation
Effect of starvation and exercise on actual and total activity of the branched-chain 2-oxo acid dehydrogenase complex in rat tissues.
Starvation
Effect of starvation on branched-chain alpha-keto acid dehydrogenase activity in rat heart and skeletal muscle.
Starvation
Effects of diabetes and starvation on skeletal muscle branched-chain alpha-keto acid dehydrogenase activity.
Starvation
Hepatic branched-chain alpha-keto acid dehydrogenase complex in female rats: activation by exercise and starvation.
Starvation
Leucine and its keto acid enhance the coordinated expression of genes for branched-chain amino acid catabolism in Arabidopsis under sugar starvation.
Starvation
Mitochondrial alpha-ketoacid dehydrogenase kinases: a new family of protein kinases.
Starvation
Nutritional and hormonal regulation of the activity state of hepatic branched-chain alpha-keto acid dehydrogenase complex.
Starvation
Protein expressions of branched-chain keto acid dehydrogenase subunits are selectively and posttranscriptionally altered in liver and skeletal muscle of starved rats.
Starvation
Regulation of the branched-chain 2-oxo acid dehydrogenase complex in hepatocytes isolated from rats fed on a low-protein diet.
Starvation
Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
Starvation
Studies on metabolism of branched chain amino acids in brain and other tissues of rat with special reference to leucine.
Thiamine Deficiency
Impaired oxidation of branched-chain amino acids in the medial thalamus of thiamine-deficient rats.
Uremia
Branched-chain amino acid catabolism in uremia: dual regulation of branched-chain alpha-ketoacid dehydrogenase by extracellular pH and glucocorticoids.
Uremia
Glucocorticoids and acidification independently increase transcription of branched-chain ketoacid dehydrogenase subunit genes.
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