Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 1.2.4.4 - 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring)

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
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.
Classical maple syrup urine disease and brain development: principles of management and formula design.
Developmental Defects of Caenorhabditis elegans Lacking Branched-chain ?-Ketoacid Dehydrogenase Are Mainly Caused by Monomethyl Branched-chain Fatty Acid Deficiency.
Earwax: A potentially useful medium to identify inborn errors of metabolism?
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.
Immunoextraction of lipoamide dehydrogenase from cultured skin fibroblasts in patients with combined alpha-ketoacid dehydrogenase 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.
Mild inborn errors of metabolism in commonly used inbred mouse strains.
Acidosis
Acidosis, not azotemia, stimulates branched-chain, amino acid catabolism in uremic rats.
Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration.
Branched-chain amino acid catabolism in uremia: dual regulation of branched-chain alpha-ketoacid dehydrogenase by extracellular pH and glucocorticoids.
Branched-chain amino acid metabolism in rat muscle: abnormal regulation in acidosis.
Chronic metabolic acidosis accelerates whole body proteolysis and oxidation in awake rats.
Correction of metabolic acidosis to ameliorate wasting in chronic kidney disease: goals and strategies.
Glucocorticoids and acidification independently increase transcription of branched-chain ketoacid dehydrogenase subunit genes.
Markers of inflammation, proteolysis, and apoptosis in ESRD.
Mechanisms that cause protein and amino acid catabolism in uremia.
Metabolic acidosis accelerates whole body protein degradation and leucine oxidation by a glucocorticoid-dependent mechanism.
Metabolic acidosis and malnutrition in dialysis patients.
Metabolic acidosis and malnutrition-inflammation complex syndrome in chronic renal failure.
Regulation of branched-chain ketoacid dehydrogenase flux by extracellular pH and glucocorticoids.
Stimulation of rat-liver branched-chain alpha-keto acid dehydrogenase activity by chronic metabolic acidosis.
The search for the uremic toxin: the case for metabolic 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?
Atherosclerosis
Common dysregulated pathways in obese adipose tissue and atherosclerosis.
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.
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.
Regulation of branched-chain amino acid catabolism in rat models for spontaneous type 2 diabetes mellitus.
Regulation of hepatic branched-chain ?-ketoacid dehydrogenase complex in rats fed a high-fat diet.
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.
Effect of valine on myotube insulin sensitivity and metabolism with and without insulin resistance.
Serum amino acid concentrations are modified by age, insulin resistance, and BCAT2 rs11548193 and BCKDH rs45500792 polymorphisms in subjects with obesity.
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
Absence of branched chain acyl-transferase as a cause of maple syrup urine disease.
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human 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.
Leukemia
Metabolic effects of acute thiamine depletion are reversed by rapamycin in breast and leukemia cells.
Liver Cirrhosis
Branched-chain amino acid catabolism in exercise and liver disease.
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.
Antimitochondrial antibodies of primary biliary cirrhosis recognize dihydrolipoamide acyltransferase and inhibit enzyme function of the branched chain alpha-ketoacid dehydrogenase complex.
Antimitochondrial autoantibodies of primary biliary cirrhosis as a novel probe in the study of 2-oxo acid dehydrogenases in patients with mitochondrial myopathies.
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.
Demonstration of peptide-specific and cross-reactive epitopes in proteins reacting with antimitochondrial antibodies of primary biliary cirrhosis.
Detection of autoantibodies to recombinant mitochondrial proteins in patients with primary biliary cirrhosis.
Frequency of IgG and IgM autoantibodies to four specific M2 mitochondrial autoantigens in primary biliary cirrhosis.
Inhibition of alpha-ketoglutarate dehydrogenase activity by a distinct population of autoantibodies recognizing dihydrolipoamide succinyltransferase in primary biliary cirrhosis.
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.
Sera from patients with tuberculosis recognize the M2a-epitope (E2-subunit of pyruvate dehydrogenase) specific for primary biliary cirrhosis.
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.
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.
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.
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.
A distinct variant of intermediate maple syrup urine disease.
A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD).
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.
A novel deletion creating a new terminal exon of the dihydrolipoyl transacylase gene is a founder mutation of Filipino 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.
A simple and rapid enzymatic assay for the branched-chain alpha-ketoacid dehydrogenase complex using high-performance liquid chromatography.
A structural abnormality of E1 component of the branched-chain alpha-keto acid dehydrogenase complex in 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.
Absence of branched chain acyl-transferase as a cause of 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.
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.
Altered phosphorylation state of branched-chain 2-oxo acid dehydrogenase in a branched-chain acyltransferase deficient human fibroblast cell line.
Amino acid clearance during acute metabolic decompensation in maple syrup urine disease treated with continuous venovenous hemodialysis with filtration.
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.
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.
An integration-free iPSC line (SDQLCHi013-A) derived from a patient with maple syrup urine disease carrying compound heterozygote mutations in BCKDHA gene.
Analysis of gene mutations among South Indian patients with maple syrup urine disease: identification of four novel mutations.
Analysis of gene mutations in Chinese patients with maple syrup urine disease.
Animal models of maple syrup urine disease.
Application of droplet digital PCR in the analysis of genome integration and organization of the transgene in BAC transgenic mice.
Application of liquid chromatography-tandem mass spectrometry in the diagnosis and follow-up of maple syrup urine disease in a Chinese population.
Benzothiophene Carboxylate Derivatives as Novel Allosteric Inhibitors of Branched-chain ?-Ketoacid Dehydrogenase Kinase.
Brain amino acid requirements and toxicity: the example of leucine.
Branched-chain alpha-ketoacids and related acids in thiamin-deprived rats.
Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.
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.
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning.
Challenges in the management of patients with maple syrup urine disease diagnosed by newborn screening in a developing country.
Chloride-dependent inhibition of vesicular glutamate uptake by alpha-keto acids accumulated in maple syrup urine disease.
Clues and challenges in the diagnosis of intermittent maple syrup urine disease.
Complementation analysis in lymphoid cells from five patients with different forms of maple syrup urine disease.
Complementation of defective leucine decarboxylation in fibroblasts from a maple syrup urine disease patient by retrovirus-mediated gene transfer.
Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in 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.
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.
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
Dietary thiamin level influences levels of its diphosphate form and thiamin-dependent enzymic activities of rat liver.
DNA damage in an animal model of maple syrup urine disease.
Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection.
EEG Pattern in Neonatal Maple Syrup Urine Disease: Description and Clinical Significance.
Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases.
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease.
Erythrocyte glutathione peroxidase activity and plasma selenium concentration are reduced in maple syrup urine disease patients during treatment.
Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease.
Evidence that oxidative stress is increased in plasma from patients with maple syrup urine disease.
Expression of mitochondrial branched-chain aminotransferase and ?-keto-acid dehydrogenase in rat brain: implications for neurotransmitter metabolism.
Formation of L-alloisoleucine in vivo: an L-[13C]isoleucine study in man.
Four novel mutations identified in Norwegian patients result in intermittent maple syrup urine disease when combined with the R301C mutation.
Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease.
Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population.
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.
Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification.
Hepatocyte Transplantation Improves Phenotype and Extends Survival in a Murine Model of Intermediate Maple Syrup Urine Disease.
Human mutations affecting branched chain alpha-ketoacid dehydrogenase.
Hyperleucinosis during infections in maple syrup urine disease post liver transplantation.
Ibuprofen during gestation prevents some changes in physical and reflex development in offspring in a model of hyperleucinemia and maternal inflammation.
Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.
Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease.
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease.
Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD.
Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA 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.
Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease.
Intracerebroventricular administration of ?-ketoisocaproic acid decreases brain-derived neurotrophic factor and nerve growth factor levels in brain of young rats.
Lessons from genetic disorders of branched-chain amino acid metabolism.
Mammalian alpha-keto acid dehydrogenase complexes: gene regulation and genetic defects.
Maple syrup urine disease (MSUD): screening for known mutations in Italian patients.
Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination.
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 Masquerading as Urea Cycle Disorder: A Tale of Two Clinical Mimics.
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. 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: a possible biochemical basis for the clinical heterogeneity.
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: magnetic resonance imaging findings in three patients.
Maple syrup urine disease: mutation analysis in Turkish patients.
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.
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.
Metabolism of branched-chain amino acids in fibroblasts from patients with maple syrup urine disease and other abnormalities of branched-chain ketoacid dehydrogenase activity.
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex.
Molecular basis of maple syrup urine disease and stable correction by retroviral gene transfer.
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.
Molecular defects in the E1 alpha subunit of the branched-chain alpha-ketoacid dehydrogenase complex that cause 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.
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.
Molecular genetic characterization of maple syrup urine disease in European families.
Molecular genetics of maple syrup urine disease in the Turkish population.
Molecular heterogeneity for bovine 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.
Muscle-directed AAV gene therapy rescues the maple syrup urine disease phenotype in a mouse model.
Mutational spectrum of maple syrup urine disease in Spain.
Natural osmolyte trimethylamine N-oxide corrects assembly defects of mutant branched-chain alpha-ketoacid decarboxylase in maple syrup urine disease.
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
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.
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.
Oxidative stress in plasma from maple syrup urine disease patients during treatment.
Practical methods to estimate whole body leucine oxidation in 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.
Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with 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.
Production and characterization of murine models of classic and intermediate maple syrup urine disease.
Recall rate and positive predictive value of MSUD screening is not influenced by hydroxyproline.
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.
Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression.
Renal clearance of branched-chain L-amino and 2-oxo acids in 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.
Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease.
Sensory-motor polyneuropathy occurring in variant 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.
Stable correction of maple syrup urine disease in cells from a Mennonite patient by retroviral-mediated gene transfer.
Status spongiosus of white matter in newborn Gelbvieh-cross calves.
Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.
Study on established lymphoid cells in maple syrup urine disease. Correlation with clinical heterogeneity.
Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase.
Three Korean Patients with Maple Syrup Urine Disease: Four Novel Mutations in the BCKDHA Gene.
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.
Total parenteral nutrition therapy of toxic 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.
Two homozygous mutations in the exon 5 of BCKDHB gene that may cause the classic form of 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.
Two novel compound heterozygous mutations in the BCKDHB gene that cause the intermittent form of maple syrup urine disease.
Two novel mutations in the BCKDHB gene (R170H, Q346R) cause the classic form of maple syrup urine disease (MSUD).
Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.
[A classic case with maple syrup urine disease caused by compound heterozygous mutations of BCKDHB gene].
[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).
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: 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.
Administration of endotoxin, tumor necrosis factor, or interleukin 1 to rats activates skeletal muscle branched-chain alpha-keto acid dehydrogenase.
In vivo assessment of increased oxidation of branched-chain amino acids in glioblastoma.
Inhibiting BCKDK in triple negative breast cancer suppresses protein translation, impairs mitochondrial function, and potentiates doxorubicin cytotoxicity.
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.
Brain insulin lowers circulating BCAA levels by inducing hepatic BCAA catabolism.
Dietary branched-chain amino acid restriction alters fuel selection and reduces triglyceride stores in hearts of Zucker fatty rats.
Insulin action, type 2 diabetes, and branched-chain amino acids: A two-way street.
Metabolic Fate of Branched-Chain Amino Acids During Adipogenesis, in Adipocytes From Obese Mice and C2C12 Myotubes.
Regulation of hepatic branched-chain ?-ketoacid dehydrogenase complex in rats fed a high-fat diet.
Serum amino acid concentrations are modified by age, insulin resistance, and BCAT2 rs11548193 and BCKDH rs45500792 polymorphisms in subjects with obesity.
Protein Deficiency
A new family of protein kinases--the mitochondrial protein kinases.
Developmental pattern of branched-chain 2-oxo acid dehydrogenase complex in rat liver and heart.
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.
Activity of branched-chain 2-oxo acid dehydrogenase complex in rat liver mitochondria and in rat liver.
Effect of exercise intensity and starvation on activation of branched-chain keto acid dehydrogenase by exercise.
Effect of starvation and exercise on actual and total activity of the branched-chain 2-oxo acid dehydrogenase complex in rat tissues.
Effect of starvation on branched-chain alpha-keto acid dehydrogenase activity in rat heart and skeletal muscle.
Effects of diabetes and starvation on skeletal muscle branched-chain alpha-keto acid dehydrogenase activity.
Hepatic branched-chain alpha-keto acid dehydrogenase complex in female rats: activation by exercise and starvation.
Leucine and its keto acid enhance the coordinated expression of genes for branched-chain amino acid catabolism in Arabidopsis under sugar starvation.
Mitochondrial alpha-ketoacid dehydrogenase kinases: a new family of protein kinases.
Nutritional and hormonal regulation of the activity state of hepatic branched-chain alpha-keto acid dehydrogenase complex.
Protein expressions of branched-chain keto acid dehydrogenase subunits are selectively and posttranscriptionally altered in liver and skeletal muscle of starved rats.
Regulation of the branched-chain 2-oxo acid dehydrogenase complex in hepatocytes isolated from rats fed on a low-protein diet.
Regulation of the branched-chain alpha-ketoacid dehydrogenase and elucidation of a molecular basis for maple syrup urine disease.
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.
Determinants of protein turnover in health and disease.
Glucocorticoids and acidification independently increase transcription of branched-chain ketoacid dehydrogenase subunit genes.
Mechanisms that cause protein and amino acid catabolism in uremia.
The search for the uremic toxin: the case for metabolic acidosis.