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

BRENDA support

Disease on EC 1.2.1.104 - pyruvate dehydrogenase system

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
Abscess
Regulation of glucose metabolism by altered pyruvate dehydrogenase activity. I. Potential site of insulin resistance in sepsis.
Acidosis, Lactic
Absence of pyruvate decarboxylase activity in man: a cause of congenital lactic acidosis.
Characterization of two cDNA clones for pyruvate dehydrogenase E1 beta subunit and its regulation in tricarboxylic acid cycle-deficient fibroblast.
Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase.
Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
[Pyruvate dehydrogenase deficiency and cerebral malformations]
Ataxia
Familial intermittent ataxia due to a defect of the E1 component of pyruvate dehydrogenase complex.
Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia.
Pyruvate dehydrogenase deficiency in spinocerebellar degenerations.
Brain Diseases
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Breast Neoplasms
The Effects of Thiamine on Breast Cancer Cells.
Cytochrome-c Oxidase Deficiency
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
dihydrolipoyl dehydrogenase deficiency
Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.
Friedreich Ataxia
Friedreich's ataxia II. Biochemical studies in cultured cells.
Friedreich's ataxia in northern Italy. II. Biochemical studies in cultured cells.
Glucose Intolerance
"In vitro" effects of insulin on the PDH complex of the isolated perfused heart of rats fed a sucrose-rich diet.
Heart Failure
Adaptations in Protein Expression and Regulated Activity of Pyruvate Dehydrogenase Multienzyme Complex in Human Systolic Heart Failure.
Heart Failure, Systolic
Adaptations in Protein Expression and Regulated Activity of Pyruvate Dehydrogenase Multienzyme Complex in Human Systolic Heart Failure.
Hepatitis
Autoreactive liver-infiltrating T cells in primary biliary cirrhosis recognize inner mitochondrial epitopes and the pyruvate dehydrogenase complex.
Hepatitis, Autoimmune
Autoreactive liver-infiltrating T cells in primary biliary cirrhosis recognize inner mitochondrial epitopes and the pyruvate dehydrogenase complex.
Hyperlactatemia
Potentiation of decreased pyruvate dehydrogenase activity by inflammatory stimuli in sepsis.
TNF binding protein prevents hyperlactatemia and inactivation of PDH complex in skeletal muscle during sepsis.
Infections
Potentiation of decreased pyruvate dehydrogenase activity by inflammatory stimuli in sepsis.
Insulin Resistance
Effect of starvation and insulin in vivo on the activity of the pyruvate dehydrogenase complex in rat skeletal muscles.
Pyruvate dehydrogenase-complex activity in brown adipose tissue of gold thioglucose-obese mice.
Intellectual Disability
Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia.
Kearns-Sayre Syndrome
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
Lewy Body Disease
Alteration of mitochondrial protein PDHA1 in Lewy body disease and PARK14.
Metabolism, Inborn Errors
Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
Microcephaly
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
nadh:ubiquinone reductase (h+-translocating) deficiency
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Neoplasms
Pyruvate dehydrogenase complex activity controls metabolic and malignant phenotype in cancer cells.
Nervous System Diseases
Alteration of mitochondrial protein PDHA1 in Lewy body disease and PARK14.
Obesity
Inactivation of pyruvate dehydrogenase complex in heart muscle mitochondria of gold-thioglucose-induced obese mice is not due to a stable increase in activity of pyruvate dehydrogenase kinase.
Optic Nerve Diseases
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
Pituitary Neoplasms
Differential effects of metformin on reductive activity and energy production in pituitary tumor cells compared to myogenic precursors.
pyruvate dehydrogenase (acetyl-transferring) deficiency
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Pyruvate Dehydrogenase Complex Deficiency Disease
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
pyruvate dehydrogenase system deficiency
Analysis of exonic mutations leading to exon skipping in patients with pyruvate dehydrogenase E1 alpha deficiency.
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle.
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.
Sequential deletion of C-terminal amino acids of the E(1)alpha component of the pyruvate dehydrogenase (PDH) complex leads to reduced steady-state levels of functional E(1)alpha(2)beta(2) tetramers: implications for patients with PDH deficiency.
Quadriplegia
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Sarcopenia
Abnormalities of mitochondrial functioning can partly explain the metabolic disorders encountered in sarcopenic gastrocnemius.
Seizures
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Sepsis
Potentiation of decreased pyruvate dehydrogenase activity by inflammatory stimuli in sepsis.
Regulation of glucose metabolism by altered pyruvate dehydrogenase activity. I. Potential site of insulin resistance in sepsis.
Sepsis alters pyruvate dehydrogenase kinase activity in skeletal muscle.
Sepsis-induced alterations in pyruvate dehydrogenase complex activity in rat skeletal muscle: effects on plasma lactate.
TNF binding protein prevents hyperlactatemia and inactivation of PDH complex in skeletal muscle during sepsis.
Spinocerebellar Degenerations
Pyruvate dehydrogenase deficiency in spinocerebellar degenerations.
Starvation
Effect of starvation and insulin in vivo on the activity of the pyruvate dehydrogenase complex in rat skeletal muscles.
Glucose fatty acid interactions and the regulation of glucose disposal.
Inactivation of pyruvate dehydrogenase complex in heart muscle mitochondria of gold-thioglucose-induced obese mice is not due to a stable increase in activity of pyruvate dehydrogenase kinase.
Insulin activation of pyruvate dehydrogenase complex is enhanced by exercise training.
Kinase activator protein mediates longer-term effects of starvation on activity of pyruvate dehydrogenase kinase in rat liver mitochondria.
Nutritional regulation of the protein kinases responsible for the phosphorylation of the alpha-ketoacid dehydrogenase complexes.
Pyruvate dehydrogenase-complex activity in brown adipose tissue of gold thioglucose-obese mice.
Reversible phosphorylation of pyruvate dehydrogenase in rat skeletal-muscle mitochondria. Effects of starvation and diabetes.
Studies on the interactions of Ca2+ and pyruvate in the regulation of rat heart pyruvate dehydrogenase activity. Effects of starvation and diabetes.
Usher Syndromes
Cannabinoid Receptor 1 associates to different molecular complexes during GABAergic neuron maturation.
[pyruvate dehydrogenase (acetyl-transferring)] kinase deficiency
Fasting induces ketoacidosis and hypothermia in PDHK2/PDHK4 double knockout mice.