Disease on EC 1.2.1.25 - branched-chain alpha-keto acid dehydrogenase system
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DISEASE 
TITLE OF PUBLICATION
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Acidosis
Tissue-specific responses of branched-chain alpha-ketoacid dehydrogenase activity in metabolic acidosis.
Acidosis, Lactic
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
Acidosis, Lactic
Biochemical characterization of two mutants of human pyruvate dehydrogenase, F205L and T231A of the E1alpha subunit.
Acidosis, Lactic
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Acidosis, Lactic
Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery.
Acidosis, Lactic
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms.
Arthritis, Rheumatoid
Epitope mapping of the branched chain alpha-ketoacid dehydrogenase dihydrolipoyl transacylase (BCKD-E2) protein that reacts with sera from patients with idiopathic dilated cardiomyopathy.
Brain Injuries, Traumatic
Divergent Induction of Branched-Chain Aminotransferases and Phosphorylation of Branched Chain Keto-Acid Dehydrogenase Is a Potential Mechanism Coupling Branched-Chain Keto-Acid-Mediated-Astrocyte Activation to Branched-Chain Amino Acid Depletion-Mediated Cognitive Deficit after Traumatic Brain Injury.
branched-chain alpha-keto acid dehydrogenase system deficiency
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms.
Cholangitis, Sclerosing
Antimitochondrial antibodies of primary biliary cirrhosis recognize dihydrolipoamide acyltransferase and inhibit enzyme function of the branched chain alpha-ketoacid dehydrogenase complex.
Hepatitis
Antimitochondrial antibodies of primary biliary cirrhosis recognize dihydrolipoamide acyltransferase and inhibit enzyme function of the branched chain alpha-ketoacid dehydrogenase complex.
Hepatitis, Chronic
Antimitochondrial antibodies of primary biliary cirrhosis recognize dihydrolipoamide acyltransferase and inhibit enzyme function of the branched chain alpha-ketoacid dehydrogenase complex.
Infertility, Male
Antisense inhibition of mitochondrial pyruvate dehydrogenase E1alpha subunit in anther tapetum causes male sterility.
Liver Cirrhosis, Biliary
Epitope mapping on E1alpha subunit of pyruvate dehydrogenase complex with autoantibodies of patients with primary biliary cirrhosis.
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
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
DNA carrier testing and newborn screening for maple syrup urine disease in old order mennonite communities.
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
Loss of the Drosophila branched-chain ?-keto acid dehydrogenase complex (BCKDH) results in neuronal dysfunction.
Maple Syrup Urine Disease
Maple syrup urine disease caused by a partial deletion in the inner E2 core domain of the branched chain alpha-keto acid dehydrogenase complex due to aberrant splicing. A single base deletion at a 5'-splice donor site of an intron of the E2 gene disrupts the consensus sequence in this region.
Maple Syrup Urine Disease
Maple syrup urine disease in Cypriot families: identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1alpha subunit.
Maple Syrup Urine Disease
Metformin inhibits Branched Chain Amino Acid (BCAA) derived ketoacidosis and promotes metabolic homeostasis in MSUD.
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
[Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex]
Myocardial Ischemia
Epitope mapping of the branched chain alpha-ketoacid dehydrogenase dihydrolipoyl transacylase (BCKD-E2) protein that reacts with sera from patients with idiopathic dilated cardiomyopathy.
Neoplasms
AAV3-mediated transfer and expression of the pyruvate dehydrogenase E1 alpha subunit gene causes metabolic remodeling and apoptosis of human liver cancer cells.
Neoplasms
Dichloroacetate induces apoptosis and cell-cycle arrest in colorectal cancer cells.
Neoplasms
Tentative identification of the toxohormones of cancer cachexia: roles of vasopressin, prostaglandin E2 and cachectin-TNF.
Nervous System Diseases
Loss of the Drosophila branched-chain ?-keto acid dehydrogenase complex (BCKDH) results in neuronal dysfunction.
pyruvate dehydrogenase (acetyl-transferring) deficiency
Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.
pyruvate dehydrogenase (acetyl-transferring) deficiency
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
pyruvate dehydrogenase (acetyl-transferring) deficiency
Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
pyruvate dehydrogenase (nadp+) deficiency
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
pyruvate dehydrogenase (nadp+) deficiency
Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency.
pyruvate dehydrogenase (nadp+) deficiency
Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.
pyruvate dehydrogenase (nadp+) deficiency
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
pyruvate dehydrogenase (nadp+) deficiency
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
Pyruvate Dehydrogenase Complex Deficiency Disease
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
Pyruvate Dehydrogenase Complex Deficiency Disease
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Pyruvate Dehydrogenase Complex Deficiency Disease
Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency.
Pyruvate Dehydrogenase Complex Deficiency Disease
Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.
Pyruvate Dehydrogenase Complex Deficiency Disease
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
Pyruvate Dehydrogenase Complex Deficiency Disease
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
Spasms, Infantile
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms.
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