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Disease on EC 1.2.1.51 - pyruvate dehydrogenase (NADP+)

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DISEASE
TITLE OF PUBLICATION
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3-hydroxyisobutyryl-coa hydrolase deficiency
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
Abetalipoproteinemia
Vitamin-Responsive Movement Disorders in Children.
Acanthosis Nigricans
Sensitivity of pyruvate dehydrogenase to insulin in activated T lymphocytes. Lack of responsiveness to insulin in patients with polycystic ovarian disease and diabetes.
Acidosis
"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.
Continuous pH monitoring using the Paratrend 7 inserted into a peripheral vein in a patient with shock and congenital lactic acidosis.
Dichloroacetate attenuates myocardial acidosis and metabolic changes induced by partial occlusion of the coronary artery in dogs.
Effect of induced metabolic acidosis on human skeletal muscle metabolism during exercise.
Effect of phenformin on the metabolism of glucose, pyruvate and acetate in guinea-pig heart.
Effects of lactate on glucose metabolism of developing rat brain.
Effects of work and acidosis on pyruvate dehydrogenase activity in perfused rat hearts.
Release of lactate by the liver in metabolic acidosis in vivo.
The clinical spectrum of nodular heterotopias in children: Report of 31 patients.
[Lactic acid acidosis with mitochondrial myopathy due to a pyruvate dehydrogenase deficiency]
[Sodium dichloracetate: its application to the therapeutics of experimental hyperiactatemia (author's transl)]
Acidosis, Lactic
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.
Congenital lactic acidosis.
Congenital lactic acidosis: evaluation of the properties of the a199t natural variant of human pyruvate dehydrogenase e1alpha by in vitro mutation.
Continuous pH monitoring using the Paratrend 7 inserted into a peripheral vein in a patient with shock and congenital lactic acidosis.
Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.
Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.
Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation.
Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts.
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
Dichloroacetate for lactic acidosis in severe malaria: a pharmacokinetic and pharmacodynamic assessment.
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions.
Effect of dichloracetate on infarct size in a primate model of focal cerebral ischaemia.
Energy substrate metabolism in pyruvate dehydrogenase complex deficiency.
Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.
Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.
Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.
Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase.
In utero central nervous system damage in pyruvate dehydrogenase deficiency.
Lactic Acidosis After Resuscitation with Sodium Acetate.
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.
Lactic acidosis caused by repressed lactate dehydrogenase subunit B expression down-regulates mitochondrial oxidative phosphorylation via the pyruvate dehydrogenase (PDH)-PDH kinase axis.
Lactic acidosis in three sibs due to defects in both pyruvate dehydrogenase and alpha-ketoglutarate dehydrogenase complexes.
Lactic acidosis update for critical care clinicians.
Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes.
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.
Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the ?V138M variant of human pyruvate dehydrogenase.
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
Pyruvate dehydrogenase E1 alpha deficiency.
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms.
Pyruvate dehydrogenase E3 binding protein (protein X) deficiency.
Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.
Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency.
Renal manifestations of primary mitochondrial disorders.
Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.
Sodium 2-chloropropionate: its effects on experimental hyperlactatemia in the dog.
Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.
The pharmacology of dichloroacetate.
The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
Treatment of lactic acidosis.
Treatment of severe lactic acidosis with dichloroacetate.
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
[A case of congenital lactic acidosis caused by deficiency of pyruvate dehydrogenase]
[Lactic acidosis and hyperlactatemia]
[Pyruvate dehydrogenase deficiency and cerebral malformations]
[Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis]
[Pyruvate dehydrogenase deficit associated to the C515T mutation in exon 6 of the E1alpha gene.]
acyl-coa dehydrogenase deficiency
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Adenocarcinoma
Pyruvate dehydrogenase, the citrate condensing enzyme and the utilization of 14 C-labeled lactate, pyruvate and alanine by slices of lactating mammary gland and adenocarcinoma of mouse mammary gland.
Adenocarcinoma of Lung
PDK4 promotes tumorigenesis and cisplatin resistance in lung adenocarcinoma via transcriptional regulation of EPAS1.
The microRNA-182-PDK4 axis regulates lung tumorigenesis by modulating pyruvate dehydrogenase and lipogenesis.
Agenesis of Corpus Callosum
Defects of pyruvate metabolism and the Krebs cycle.
Morphological correlates of mitochondrial dysfunction in children.
Aicardi Syndrome
The clinical spectrum of nodular heterotopias in children: Report of 31 patients.
Alkalosis
Effect of induced metabolic alkalosis on human skeletal muscle metabolism during exercise.
Renal manifestations of primary mitochondrial disorders.
Alzheimer Disease
A?PP-Transgenic 2576 Mice Mimic Cell Type-Specific Aspects of Acetyl-CoA-Linked Metabolic Deficits in Alzheimer's Disease.
An immunochemical study of the pyruvate dehydrogenase deficit in Alzheimer's disease brain.
Benfotiamine treatment activates the Nrf2/ARE pathway and is neuroprotective in a transgenic mouse model of tauopathy.
Beta-amyloid inhibits integrated mitochondrial respiration and key enzyme activities.
Coenzyme A-acetylating enzymes in Alzheimer's disease: possible cholinergic 'compartment' of pyruvate dehydrogenase.
Enzyme activities in relation to pH and lactate in postmortem brain in Alzheimer-type and other dementias.
Immunocapture and microplate-based activity measurement of mammalian pyruvate dehydrogenase complex.
amp deaminase deficiency
[Diagnostic significance of muscle biopsies in metabolic myopathies. II. Clinical biochemistry]
Anemia, Hypochromic
A Nuclear Mutation in Nicotiana sylvestris Causing a Thiamine-Reversible Defect in Synthesis of Chloroplast Pigments.
Spermine ameliorates prolonged fluoride toxicity in soil-grown rice seedlings by activating the antioxidant machinery and glyoxalase system.
Anemia, Sideroblastic
Renal manifestations of primary mitochondrial disorders.
Argininosuccinic Aciduria
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
aromatic-l-amino-acid decarboxylase deficiency
Vitamin-Responsive Movement Disorders in Children.
Arthritis, Rheumatoid
Autoantibodies to mitochondrial and centromere antigens in primary biliary cirrhosis and systemic sclerosis.
arylsulfatase (type i) deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
aspartate-ammonia ligase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Astrocytoma
Exploiting Metabolic Differences in Glioma Therapy.
Ataxia
Ataxia.
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Deficiency of the pyruvate dehydrogenase complex and of mitochondrial fatty acid oxidation.
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.
Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia.
Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Pyruvate dehydrogenase, lipoamide dehydrogenase and citrate synthase activity in fibroblasts from patients with Friedreich's and Charlevoix-Saguenay ataxia.
Renal manifestations of primary mitochondrial disorders.
Vitamin-Responsive Movement Disorders in Children.
[Determination of muscular pyruvate dehydrogenase in 2 experimental ataxia models]
Autoimmune Diseases
A flow cytometric method to detect anti-pyruvate dehydrogenase antibody in primary biliary cirrhosis.
Anti-mitochondrial antibodies and other immunological tests in primary biliary cirrhosis.
Antimitochondrial autoantibodies of primary biliary cirrhosis as a novel probe in the study of 2-oxo acid dehydrogenases in patients with mitochondrial myopathies.
Primary biliary cirrhosis and Sjögren's syndrome: Autoimmune epithelitis.
T cell responses to natural human proteins in primary biliary cirrhosis.
TCR? repertoire of memory T cell reveals potential role for Escherichia coli in the pathogenesis of primary biliary cholangitis.
The Critical Role of Chemokine (C-C Motif) Receptor 2-Positive Monocytes in Autoimmune Cholangitis.
Avitaminosis
[Comparative evaluation of 2 methods for the determination of pyruvate dehydrogenase activity in tissues in avitaminosis B 1 induced by various methods]
Basal Ganglia Diseases
Vitamin-Responsive Movement Disorders in Children.
Biotinidase Deficiency
Ataxia.
Vitamin-Responsive Movement Disorders in Children.
Brain Diseases
A?PP-Transgenic 2576 Mice Mimic Cell Type-Specific Aspects of Acetyl-CoA-Linked Metabolic Deficits in Alzheimer's Disease.
Activities of thiamine-dependent enzymes in two experimental models of thiamine-deficiency encephalopathy: 1. The pyruvate dehydrogenase complex.
Aggravated effects of coexisting marginal thiamine deficits and zinc excess on SN56 neuronal cells.
Characteristic changes on brain CT in a case of Leigh encephalopathy with deficiency of pyruvate dehydrogenase.
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Oxidative metabolites of 5-S-cysteinylnorepinephrine are irreversible inhibitors of mitochondrial complex I and the alpha-ketoglutarate dehydrogenase and pyruvate dehydrogenase complexes: possible implications for neurodegenerative brain disorders.
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency.
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Brain Edema
Brain magnetic resonance imaging findings and radiologic review of maple syrup urine disease: Report of three cases.
Brain Injuries
Dichloroacetate treatment improves mitochondrial metabolism and reduces brain injury in neonatal mice.
Role of pyruvate dehydrogenase complex in traumatic brain injury and Measurement of pyruvate dehydrogenase enzyme by dipstick test.
Brain Injuries, Traumatic
Glucose metabolism after traumatic brain injury: estimation of pyruvate carboxylase and pyruvate dehydrogenase flux by mass isotopomer analysis.
Pyruvate Dehydrogenase and Tricarboxylic Acid Cycle Enzymes Are Sensitive Targets of Traumatic Brain Injury Induced Metabolic Derangement.
Pyruvate dehydrogenase enzyme dipstick test in traumatic brain injury: A concern.
Role of pyruvate dehydrogenase complex in traumatic brain injury and Measurement of pyruvate dehydrogenase enzyme by dipstick test.
Brain Ischemia
Effect of nicardipine, a Ca2+ channel blocker, on pyruvate dehydrogenase activity and energy metabolites during cerebral ischemia and reperfusion in gerbil brain.
Facilitating postischemic reduction of cerebral lactate in rats.
Hyperoxic reperfusion after global ischemia decreases hippocampal energy metabolism.
Neuronal subclass-selective loss of pyruvate dehydrogenase immunoreactivity following canine cardiac arrest and resuscitation.
Pyruvate dehydrogenase activity in the rat cerebral cortex following cerebral ischemia.
The effect of duration of cerebral ischemia on brain pyruvate dehydrogenase activity, energy metabolites, and blood flow during reperfusion in gerbil brain.
[Effect of duration of cerebral ischemia on pyruvate dehydrogenase activity (PDH) and metabolites in the gerbil brain]
Brain Neoplasms
mTORC2 links growth factor signaling with epigenetic regulation of iron metabolism in glioblastoma.
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.
Breast Neoplasms
Differential expression of pyruvate dehydrogenase E1A and its inactive phosphorylated form among breast cancer subtypes.
Effect of Doxorubicin on Myocardial Bicarbonate Production From Pyruvate Dehydrogenase in Women With Breast Cancer.
Impairment of HIF-1?-mediated metabolic adaption by NRF2-silencing in breast cancer cells.
Suppression of PDHX by microRNA-27b deregulates cell metabolism and promotes growth in breast cancer.
The novel function of tumor protein D54 in regulating pyruvate dehydrogenase and metformin cytotoxicity in breast cancer.
Burkitt Lymphoma
Hypoxia-Inducible Factor 1 and Dysregulated c-Myc Cooperatively Induce Vascular Endothelial Growth Factor and Metabolic Switches Hexokinase 2 and Pyruvate Dehydrogenase Kinase 1.
Carcinogenesis
A combination of alpha lipoic acid and calcium hydroxycitrate is efficient against mouse cancer models: preliminary results.
Overexpression of Pyruvate dehydrogenase E1a subunit Inhibits Warburg effect and Induces Cell Apoptosis through Mitochondria-mediated Pathway in Hepatocellular Carcinoma.
Ras-mediated modulation of pyruvate dehydrogenase activity regulates mitochondrial reserve capacity and contributes to glioblastoma tumorigenesis.
The microRNA-182-PDK4 axis regulates lung tumorigenesis by modulating pyruvate dehydrogenase and lipogenesis.
Carcinoma
Decreased expression of pyruvate dehydrogenase A1 predicts an unfavorable prognosis in ovarian carcinoma.
Expression parameters of the metabolic pathway genes pyruvate dehydrogenase kinase-1 (PDK-1) and DJ-1/PARK7 in renal cell carcinoma (RCC).
Hexokinase II promotes the Warburg effect by phosphorylating alpha subunit of pyruvate dehydrogenase.
Lung Cancer: A Comparative Study of Metabolism Related Protein Expression in Cancer Cells and Tumor Associated Stroma.
Metformin increases PDH and suppresses HIF-1? under hypoxic conditions and induces cell death in oral squamous cell carcinoma.
[S35 lipoic acid distribution and its effect on pyruvate dehydrogenase activity in rats with Walker carcinoma]
Carcinoma, Ehrlich Tumor
Ammonium ions enhance the flow through the pyruvate dehydrogenase in Ehrlich ascites tumor cells.
Kinetic and regulatory properties of pyruvate dehydrogenase from Ehrlich ascites tumor cells.
Multiple effects of amobarbital on Ehrlich ascites tumor cells. Inhibition of pyruvate dehydrogenase.
Carcinoma, Hepatocellular
Active pyruvate dehydrogenase and impaired gluconeogenesis in orthotopic hepatomas of rats.
Dexamethasone permits the release of an inhibitor of pyruvate dehydrogenase from Reuber H-35 hepatoma cells in response to insulin.
Effects of fasting on the control of fatty-acid synthesis in hepatoma 7777 and host liver. Role of long-chain fatty acyl-CoA,, the mitochondrial citrate transporter and pyruvate dehydrogenase activity.
Inhibition of pyruvate dehydrogenase kinase?1 by dicoumarol enhances the sensitivity of hepatocellular carcinoma cells to oxaliplatin via metabolic reprogramming.
Overexpression of Pyruvate dehydrogenase E1a subunit Inhibits Warburg effect and Induces Cell Apoptosis through Mitochondria-mediated Pathway in Hepatocellular Carcinoma.
Partial purification from hepatoma cells of an intracellular substance which mediates the effects of insulin on pyruvate dehydrogenase and low Km cyclic AMP phosphodiesterase.
Pyruvate dehydrogenase levels in Morris hepatomas with different growth rate.
Regulation of mammalian pyruvate dehydrogenase alpha subunit gene expression by glucose in HepG2 cells.
The chemical mediators of insulin action: possible targets for postreceptor defects.
The HGF-MET axis coordinates liver cancer metabolism and autophagy for chemotherapeutic resistance.
Carcinoma, Renal Cell
Expression parameters of the metabolic pathway genes pyruvate dehydrogenase kinase-1 (PDK-1) and DJ-1/PARK7 in renal cell carcinoma (RCC).
Hexokinase II promotes the Warburg effect by phosphorylating alpha subunit of pyruvate dehydrogenase.
Carcinosarcoma
[Lactate and pyruvate metabolism in the tissues of rats with Walker carcinosarcoma injected with oxythiamine]
Cardiomegaly
Role of pyruvate dehydrogenase inhibition in the development of hypertrophy in the hyperthyroid rat heart: a combined magnetic resonance imaging and hyperpolarized magnetic resonance spectroscopy study.
Cardiomyopathies
Pyruvate dehydrogenase activity in cardiac mitochondria from genetically diabetic mice.
Pyruvate dehydrogenase as a therapeutic target for obesity cardiomyopathy.
Cerebellar Ataxia
A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency.
Cerebral Palsy
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Charcot-Marie-Tooth Disease
Pyruvate oxidation in Charcot-Marie-Tooth disease.
Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results.
Cholangitis
Antibodies to carbonic anhydrase in patients with immune cholangiopathies.
Detection of anti-mitochondrial antibodies by immunoprecipitation in patients with systemic sclerosis.
Hepatitic bile duct injuries in chronic hepatitis C: histopathologic and immunohistochemical studies.
Induction of autoimmune cholangitis in non-obese diabetic (NOD).1101 mice following a chemical xenobiotic immunization.
TCR? repertoire of memory T cell reveals potential role for Escherichia coli in the pathogenesis of primary biliary cholangitis.
The Critical Role of Chemokine (C-C Motif) Receptor 2-Positive Monocytes in Autoimmune Cholangitis.
Cholangitis, Sclerosing
Antibodies to carbonic anhydrase in patients with immune cholangiopathies.
Cholestasis
Renal manifestations of primary mitochondrial disorders.
[Activity of carbohydrate metabolism enzyme activity in normal and pathologic parodontal tissues]
Chondrodysplasia Punctata, Rhizomelic
Lactate oxidation for the detection of mitochondrial dysfunction in human skin fibroblasts.
Citrullinemia
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Colitis
Quantitative analysis of mucosal oxygenation using ex vivo imaging of healthy and inflamed mammalian colon tissue.
Colonic Neoplasms
Vitamin C activates pyruvate dehydrogenase (PDH) targeting the mitochondrial tricarboxylic acid (TCA) cycle in hypoxic KRAS mutant colon cancer.
Colorectal Neoplasms
Cellular Metabolism and Dose Reveal Carnitine-Dependent and -Independent Mechanisms of Butyrate Oxidation in Colorectal Cancer Cells.
Hemistepsin A suppresses colorectal cancer growth through inhibiting pyruvate dehydrogenase kinase activity.
miR-26a enhances colorectal cancer cell growth by targeting RREB1 deacetylation to activate AKT-mediated glycolysis.
Coma
Changes in pyruvate dehydrogenase complex activity during and following severe insulin-induced hypoglycemia.
Selective increase of brain lactate synthesis in experimental acute liver failure: results of a [H-C] nuclear magnetic resonance study.
[Intensity of glycolysis and activity of energy metabolism enzymes in rat brain after multiple exposures to hypoglycemic doses of insulin]
Congenital Abnormalities
Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase.
Congenital Disorders of Glycosylation
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Coronary Artery Disease
Myocardial metabolic and hemodynamic effects of dichloroacetate in coronary artery disease.
Coronary Occlusion
Dichloroacetate attenuates myocardial acidosis and metabolic changes induced by partial occlusion of the coronary artery in dogs.
Cushing Syndrome
The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing's syndrome.
Cysts
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions.
Cytochrome-c Oxidase Deficiency
Determination of [U-13C]glucose turnover into various metabolite pools for the differential diagnosis of lactic acidemias.
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
[Leigh's syndrome and mitochondrial myopathy]
Deficiency Diseases
Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes.
Dementia
Enzyme activities in relation to pH and lactate in postmortem brain in Alzheimer-type and other dementias.
Diabetes Mellitus
Effect of streptozotocin-induced diabetes mellitus on the turnover of rat liver pyruvate carboxylase and pyruvate dehydrogenase.
Hyperpolarized NMR study of the impact of pyruvate dehydrogenase kinase inhibition on the pyruvate dehydrogenase and TCA flux in type 2 diabetic rat muscle.
Insulin resistance in the liver in fasting and diabetes mellitus: the failure of insulin to stimulate the release of a chemical modulator of pyruvate dehydrogenase.
Diabetes Mellitus, Experimental
Changes of pyruvate dehydrogenase in brain during alloxan diabetes.
Differential response of liver and kidney adenine nucleotide translocase and pyruvate dehydrogenase activity to alloxan diabetes. The possible regulatory role of long chain acyl CoA.
Diabetes Mellitus, Type 1
13C-nuclear magnetic resonance spectroscopy studies of hepatic glucose metabolism in normal subjects and subjects with insulin-dependent diabetes mellitus.
Diabetes Mellitus, Type 2
Adipocyte glycogen synthase and pyruvate dehydrogenase in obese and type II diabetic subjects.
Derangements of pyruvate dehydrogenase in circulating lymphocytes of NIDDM patients and their healthy offspring.
Dose-response characteristics of impaired glucose oxidation in non-insulin-dependent diabetes mellitus.
Effect of sulfonylurea agents on pyruvate dehydrogenase activity in circulating lymphocytes from patients with non-insulin-dependent diabetes mellitus (NIDDM).
Fasting hyperglycemia normalizes oxidative and nonoxidative pathways of insulin-stimulated glucose metabolism in noninsulin-dependent diabetes mellitus.
Hyperpolarized NMR study of the impact of pyruvate dehydrogenase kinase inhibition on the pyruvate dehydrogenase and TCA flux in type 2 diabetic rat muscle.
Impaired Glucose Partitioning in Primary Myotubes from Severely Obese Women with Type 2 Diabetes.
In obese individuals dexfenfluramine corrects molecular derangements reflecting insulin resistance.
Increasing Pyruvate Dehydrogenase Flux as a Treatment for Diabetic Cardiomyopathy: A Combined 13C Hyperpolarized Magnetic Resonance and Echocardiography Study.
Insulin resistance in obese subjects and newly diagnosed NIDDM patients and derangements of pyruvate dehydrogenase in their circulating lymphocytes.
Molecular effects of sulphonylurea agents in circulating lymphocytes of patients with non-insulin-dependent diabetes mellitus.
Pregnancy induces molecular alterations reflecting impaired insulin control over glucose oxidative pathways that only in women with a family history of Type 2 diabetes last beyond pregnancy.
Regulation of pyruvate metabolism in metabolic-related diseases.
Diabetic Cardiomyopathies
Increasing Pyruvate Dehydrogenase Flux as a Treatment for Diabetic Cardiomyopathy: A Combined 13C Hyperpolarized Magnetic Resonance and Echocardiography Study.
Diabetic Ketoacidosis
Pyruvate dehydrogenase activity is decreased in emergency department patients with diabetic ketoacidosis.
Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency.
Diabetic Neuropathies
Pyruvate Dehydrogenase Kinase-mediated Glycolytic Metabolic Shift in the Dorsal Root Ganglion Drives Painful Diabetic Neuropathy.
Diabetic Retinopathy
A pyruvate dehydrogenase kinase inhibitor prevents retinal cell death and improves energy metabolism in rat retinas after ischemia/reperfusion injury.
dihydrolipoyl dehydrogenase deficiency
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.
Down Syndrome
Enzyme activities in relation to pH and lactate in postmortem brain in Alzheimer-type and other dementias.
Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome.
Drug Resistant Epilepsy
Current Perspectives On The Role Of The Ketogenic Diet In Epilepsy Management.
Food and Food Products on the Italian Market for Ketogenic Dietary Treatment of Neurological Diseases.
Dyskinesias
Pyruvate dehydrogenase complex-E2 deficiency causes paroxysmal exercise-induced dyskinesia.
Dystonia
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia.
Zonisamide ameliorates symptoms of secondary paroxysmal dystonia.
Encephalitis
Ataxia.
Endometriosis
Repurposing dichloroacetate for the treatment of women with endometriosis.
Endotoxemia
The effect of calcium on pyruvate dehydrogenase activity during endotoxemia.
Epilepsy
Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review.
Apparent identity of alpha-subunit of pyruvate dehydrogenase and the protein phosphorylated in the presence of glutamate in P2-fractions of rat cerebral cortex.
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Impairments in Oxidative Glucose Metabolism in Epilepsy and Metabolic Treatments Thereof.
Ketogenic Diet: A New Light Shining on Old but Gold Biochemistry.
Mitochondria: The ketogenic diet-A metabolism-based therapy.
Potential therapeutic use of the ketogenic diet in autism spectrum disorders.
Pyruvate dehydrogenase deficiency and epilepsy.
Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency.
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.
The effect of dichloroacetate in mouse models of epilepsy.
Triheptanoin alters [U-13C6]-glucose incorporation into glycolytic intermediates and increases TCA cycling by normalizing the activities of pyruvate dehydrogenase and oxoglutarate dehydrogenase in a chronic epilepsy mouse model.
Epileptic Syndromes
Current Perspectives On The Role Of The Ketogenic Diet In Epilepsy Management.
Fabry Disease
[Inborn errors of metabolism in adult neurology].
Fatigue Syndrome, Chronic
Tenuous link between chronic fatigue syndrome and pyruvate dehydrogenase deficiency.
Fatty Liver
Pyruvate dehydrogenase kinase 4 mRNA is increased in the hypertrophied ventricles of carnitine-deficient juvenile visceral steatosis (JVS) mice.
Fetal Alcohol Spectrum Disorders
Derangement of pyruvate dehydrogenase activity in circulating lymphocytes of a newborn with fetal alcohol syndrome.
Impairment of pyruvate dehydrogenase activity by acetaldehyde.
Friedreich Ataxia
Active pyruvate dehydrogenase in platelets from Friedreich's ataxia patients.
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Friedreich's ataxia: I. Normal pyruvate dehydrogenase complex activity in platelets.
Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.
Pyruvate dehydrogenase, lipoamide dehydrogenase and citrate synthase activity in fibroblasts from patients with Friedreich's and Charlevoix-Saguenay ataxia.
Serum and platelet lipoamide dehydrogenase in Friedreich's ataxia.
fumarate hydratase deficiency
Defects of pyruvate metabolism and the Krebs cycle.
Galactosemias
Impact of selected inborn errors of metabolism on prenatal and neonatal development.
Genetic Diseases, Inborn
Optic neuropathy in a patient with pyruvate dehydrogenase deficiency.
Glaucoma
A pyruvate dehydrogenase kinase inhibitor prevents retinal cell death and improves energy metabolism in rat retinas after ischemia/reperfusion injury.
Glioblastoma
IDH1 Mutation Induces Reprogramming of Pyruvate Metabolism.
mTORC2 links growth factor signaling with epigenetic regulation of iron metabolism in glioblastoma.
Ras-mediated modulation of pyruvate dehydrogenase activity regulates mitochondrial reserve capacity and contributes to glioblastoma tumorigenesis.
Specific inhibition by synthetic analogs of pyruvate reveals that the pyruvate dehydrogenase reaction is essential for metabolism and viability of glioblastoma cells.
Glioma
Effects of methyl mercury and triethyllead on Na+K+ATPase and pyruvate dehydrogenase activities in glioma C6 cells.
Metabolic reprogramming of pyruvate dehydrogenase is essential for the proliferation of glioma cells expressing mutant IDH1.
MiR-363-3p modulates cell growth and invasion in glioma by directly targeting pyruvate dehydrogenase B.
Nodal regulates energy metabolism in glioma cells by inducing expression of hypoxia-inducible factor 1?.
Pharmacologically inhibiting phosphoglycerate kinase 1 for glioma with NG52.
Phosphorylated form of pyruvate dehydrogenase ?1 mediates tumor necrosis factor ?-induced glioma cell migration.
Pyruvate dehydrogenase kinase as a potential therapeutic target for malignant gliomas.
Reversing tozasertib resistance in glioma through inhibition of pyruvate dehydrogenase kinases.
Glomerulonephritis
Lycium barbarum polysaccharides attenuate rat anti-Thy-1 glomerulonephritis through mediating pyruvate dehydrogenase.
Glucose Intolerance
Friedreich's ataxia 1979: an overview.
Regulation of hepatic pyruvate dehydrogenase phosphorylation in offspring glucose intolerance induced by intrauterine hyperglycemia.
The antianginal ranolazine mitigates obesity-induced nonalcoholic fatty liver disease and increases hepatic pyruvate dehydrogenase activity.
Glycogen Storage Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Glycogen Storage Disease Type I
Urinary lactate excretion in normal children and in children with enzyme defects of carbohydrate metabolism.
Hartnup Disease
Ataxia.
Heart Arrest
Activation of Pyruvate Dehydrogenase Activity Bydichloroacetate Improves Survival and Neurologic Outcomes After Cardiac Arrest in Rats.
Energy-linked regulation of glucose and pyruvate oxidation in isolated perfused rat heart. Role of pyruvate dehydrogenase.
Enhanced pyruvate dehydrogenase activity improves cardiac outcomes in a murine model of cardiac arrest.
Neuronal subclass-selective loss of pyruvate dehydrogenase immunoreactivity following canine cardiac arrest and resuscitation.
Thiamine as a neuroprotective agent after cardiac arrest.
Heart Diseases
Pyridine nucleotide regulation of cardiac intermediary metabolism.
Heart Failure
Cardiac mitochondrial proteome dynamics with heavy water reveals stable rate of mitochondrial protein synthesis in heart failure despite decline in mitochondrial oxidative capacity.
Development of Dihydroxyphenyl Sulfonylisoindoline Derivatives as Liver-Targeting Pyruvate Dehydrogenase Kinase Inhibitors.
Increasing carbohydrate oxidation improves contractile reserves and prevents hypertrophy in porcine right heart failure.
Metabolic markers of myocardium insulin resistance in dogs with heart failure.
The effects of hypertrophy and diabetes on cardiac pyruvate dehydrogenase activity.
[Heart disease and diabetes: from pathophysiology to therapeutic options]
Hemochromatosis
Zonisamide ameliorates symptoms of secondary paroxysmal dystonia.
Hepatitis
Autoantibodies of primary biliary cirrhosis recognize dihydrolipoamide acetyltransferase and inhibit enzyme function.
Identification of the dihydrolipoamide acetyltransferase subunit of the human pyruvate dehydrogenase complex as an autoantigen in halothane hepatitis. Molecular mimicry of trifluoroacetyl-lysine by lipoic acid.
Hepatitis, Autoimmune
Antibodies to carbonic anhydrase in patients with immune cholangiopathies.
Immunoreactivity to pyruvate dehydrogenase complex-E2 in well-defined patients with autoimmune hepatitis: Western blot analysis.
Hepatitis, Chronic
Autoantibodies of primary biliary cirrhosis recognize dihydrolipoamide acetyltransferase and inhibit enzyme function.
Hepatitic bile duct injuries in chronic hepatitis C: histopathologic and immunohistochemical studies.
Hepatolenticular Degeneration
Free radical-mediated neurotoxicity may be caused by inhibition of mitochondrial dehydrogenases in vitro and in vivo.
[Treatable hereditary neuro-metabolic diseases]
Huntington Disease
Beneficial effect of (-)schisandrin B against 3-nitropropionic acid-induced cell death in PC12 cells.
Distribution of phosphate-activated glutaminase, succinic dehydrogenase, pyruvate dehydrogenase and gamma-glutamyl transpeptidase in post-mortem brain from Huntington's disease and agonal cases.
Enzyme activities in relation to pH and lactate in postmortem brain in Alzheimer-type and other dementias.
Histone Deacetylase Inhibitors Protect Against Pyruvate Dehydrogenase Dysfunction in Huntington's Disease.
Hyperargininemia
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Hyperemia
Pyruvate-enhanced phosphorylation potential and inotropism in normoxic and postischemic isolated working heart. Near-complete prevention of reperfusion contractile failure.
Hyperglycemia
Effect of Chronic Hyperglycemia on Glucose Metabolism in Subjects with Normal Glucose Tolerance.
Effect of hyperglycemia on pyruvate dehydrogenase activity and energy metabolites during ischemia and reperfusion in gerbil brain.
Effect of lipid oxidation on glucose utilization in humans.
Fasting hyperglycemia normalizes oxidative and nonoxidative pathways of insulin-stimulated glucose metabolism in noninsulin-dependent diabetes mellitus.
Pimozide Alleviates Hyperglycemia in Diet-Induced Obesity by Inhibiting Skeletal Muscle Ketone Oxidation.
Preischemic hyperglycemia and postischemic alteration of rat brain pyruvate dehydrogenase activity.
Regulation of hepatic pyruvate dehydrogenase phosphorylation in offspring glucose intolerance induced by intrauterine hyperglycemia.
Hyperglycinemia, Nonketotic
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Inborn errors of metabolism: a cause of abnormal brain development.
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
[Cerebral malformation in the newborn: holoprosencephaly and agenesis of the corpus callosum]
[Contribution of CSF analysis to the diagnosis of inborn errors of metabolism in adult patients]
Hyperinsulinism
Effects of blockade of fatty acid oxidation on whole body and tissue-specific glucose metabolism in rats.
Interaction between glucose and free fatty acid metabolism in human skeletal muscle.
Hyperlactatemia
Evidence for a role of exogenous or endogenous hyperlactatemia in insulin secretion in the dog.
Lactate production and measurement in critically ill horses.
Sodium 2-chloropropionate: its effects on experimental hyperlactatemia in the dog.
[Energy substrate metabolism during stress]
[Hypolactatemic effect of sodium difluoroacetate]
Hyperlipidemias
Hepatic HAX-1 inactivation prevents metabolic diseases by enhancing mitochondrial activity and bile salt export.
Hypertension
Epigenetic Metabolic Reprogramming of Right Ventricular Fibroblasts in Pulmonary Arterial Hypertension: A Pyruvate Dehydrogenase Kinase-Dependent Shift in Mitochondrial Metabolism Promotes Right Ventricular Fibrosis.
Pyruvate dehydrogenase inhibition by the inflammatory cytokine TNF? contributes to the pathogenesis of pulmonary arterial hypertension.
The Endocannabinoid System Affects Myocardial Glucose Metabolism in the DOCA-Salt Model of Hypertension.
Hypertension, Pulmonary
Renal manifestations of primary mitochondrial disorders.
Time-dependent PPAR? Modulation of HIF-1? Signaling in Hypoxic Pulmonary Artery Smooth Muscle Cells.
Hyperthyroidism
Interaction between insulin and thyroid hormones on the control of carbohydrate and lipid metabolism in rat adipose tissue.
Role of pyruvate dehydrogenase inhibition in the development of hypertrophy in the hyperthyroid rat heart: a combined magnetic resonance imaging and hyperpolarized magnetic resonance spectroscopy study.
Hypoglycemia
Changes in pyruvate dehydrogenase complex activity during and following severe insulin-induced hypoglycemia.
Starvation and seizures. Observation on the electroconvulsive threshold and cerebral metabolism of the starved adult rat.
The Effects of Sodium Dichloroacetate on Mitochondrial Dysfunction and Neuronal Death Following Hypoglycemia-Induced Injury.
Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
Hypokinesia
[Activity of various oxidases and transaminases in the rat liver in the readaptation period after hypokinesia up to 30 days]
Hypophosphatasia
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Hypophosphatemia
Mapping of the glycine receptor alpha 2-subunit gene and the GABAA alpha 3-subunit gene on the mouse X chromosome.
Hypothyroidism
Ataxia.
Interaction between insulin and thyroid hormones on the control of carbohydrate and lipid metabolism in rat adipose tissue.
Infections
A mechanism for induction of a hypoxic response by vaccinia virus.
Disruption of the pdhB pyruvate dehydrogenase [corrected] gene affects colony morphology, in vitro growth and cell invasiveness of Mycoplasma agalactiae.
Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery.
Energy Metabolism in the Placenta and the Role of Disturbances in the Development of Placental Insufficiency at an Exacerbation of Cytomegalovirus Infection.
Metabolic responses of primary and transformed cells to intracellular Listeria monocytogenes.
Microsporidian mitochondrial proteins: expression in Antonospora locustae spores and identification of genes coding for two further proteins.
Mycoplasma genitalium rapidly disseminates to the upper reproductive tracts and knees of female mice following vaginal inoculation.
Plasmodium pyruvate dehydrogenase activity is only essential for the parasite's progression from liver infection to blood infection.
Insulin Resistance
Circulating factors and insulin resistance. II. The action of the novel myo-inositol cyclic 1,2-inositol phosphate phosphoglycan insulin antagonist from human plasma in regulating pyruvate dehydrogenase phosphatase.
Decreased insulin-generation of pyruvate dehydrogenase inhibitor in insulin resistant states.
Development of insulin sensitivity in white adipose tissue during the suckling-weaning transition in the rat. Involvement of glucose transport and lipogenesis.
Different types of postinsulin receptor defects contribute to insulin resistance in hearts of obese Zucker rats.
Effects of dietary fatty acids on insulin sensitivity and secretion.
Enhanced blood insulin overcomes pyruvate dehydrogenase derangements that reflect systemic insulin resistance in obese adolescents.
Genetic activation of pyruvate dehydrogenase alters oxidative substrate selection to induce skeletal muscle insulin resistance.
Genetic inactivation of pyruvate dehydrogenase kinases improves hepatic insulin resistance induced diabetes.
Growth hormone-induced insulin resistance in human subjects involves reduced pyruvate dehydrogenase activity.
Hepatic HAX-1 inactivation prevents metabolic diseases by enhancing mitochondrial activity and bile salt export.
Hexose-independent activation of glycogen synthase and pyruvate dehydrogenase by insulin is dissociated in the mouse BC3H-1 cell line.
High dietary fructose induces a hepatic stress response resulting in cholesterol and lipid dysregulation.
Hyperpolarized NMR study of the impact of pyruvate dehydrogenase kinase inhibition on the pyruvate dehydrogenase and TCA flux in type 2 diabetic rat muscle.
In obese individuals dexfenfluramine corrects molecular derangements reflecting insulin resistance.
Insulin activates phospholipase C in fat cells: similarity with the activation of pyruvate dehydrogenase.
Insulin resistance in obese subjects and newly diagnosed NIDDM patients and derangements of pyruvate dehydrogenase in their circulating lymphocytes.
Insulin resistance in the liver in fasting and diabetes mellitus: the failure of insulin to stimulate the release of a chemical modulator of pyruvate dehydrogenase.
Insulin resistance induced by growth hormone is linked to lipolysis and associated with suppressed pyruvate dehydrogenase activity in skeletal muscle: a 2?×?2 factorial, randomised, crossover study in human individuals.
Insulin resistance of glucose metabolism in isolated brown adipocytes of lactating rats. Evidence for a post-receptor defect in insulin action.
Mechanism of free fatty acid-induced insulin resistance in humans.
Metabolic diseases drug discovery world summit. July 28-29, 2003, San Diego, CA, USA.
News and views in myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS): The role of co-morbidity and novel treatments.
Opposing actions of dehydroepiandrosterone and testosterone on insulin sensitivity. In vivo and in vitro studies of hyperandrogenic females.
Pyruvate dehydrogenase and ATP citrate (pro-3S)-lyase activities in adipose tissue and liver of the young lean and the older obese rat.
Pyruvate dehydrogenase inactivity is not responsible for sepsis-induced insulin resistance.
Pyruvate dehydrogenase, Randle cycle, and skeletal muscle insulin resistance.
Regulation of glucose metabolism by altered pyruvate dehydrogenase activity. I. Potential site of insulin resistance in sepsis.
Regulation of hepatic fat and glucose oxidation in rats with lipid-induced hepatic insulin resistance.
Sensitivity of pyruvate dehydrogenase to insulin in activated T lymphocytes. Lack of responsiveness to insulin in patients with polycystic ovarian disease and diabetes.
The effect of diet composition on weight gain and pyruvate dehydrogenase activity in heart muscle in the gold thioglucose obese mouse.
The Importance of the Fatty Acid Transporter L-Carnitine in Non-Alcoholic Fatty Liver Disease (NAFLD).
Insulinoma
Regulation of islet beta-cell pyruvate metabolism: interactions of prolactin, glucose, and dexamethasone.
Intellectual Disability
Immunochemical analysis of pyruvate dehydrogenase complex in 2 boys with primary lactic acidemia.
Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.
The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
Iron Overload
Renal manifestations of primary mitochondrial disorders.
Ischemic Attack, Transient
Effect of dichloroacetate on regional energy metabolites and pyruvate dehydrogenase activity during ischemia and reperfusion in gerbil brain.
Ischemic tolerance phenomenon from an approach of energy metabolism and the mitochondrial enzyme activity of pyruvate dehydrogenase in gerbils.
Ischemic Stroke
Ataxia.
Ketosis
Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.
Starvation and seizures. Observation on the electroconvulsive threshold and cerebral metabolism of the starved adult rat.
Lafora Disease
Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review.
Leigh Disease
Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts.
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency.
Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE).
Pyruvate dehydrogenase phosphate (PDHb) phosphatase activity in fibroblasts from Leigh's disease.
Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
[Treatment of mitochondrial diseases]
Lennox Gastaut Syndrome
Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
Leukemia
Oncophosphosignaling Favors a Glycolytic Phenotype in Human Drug Resistant Leukemia.
T cells critically depend on pyruvate oxidation.
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Tyrosine kinase inhibition in leukemia induces an altered metabolic state sensitive to mitochondrial perturbations.
Leukemia, Myeloid
T cells critically depend on pyruvate oxidation.
Leukodystrophy, Metachromatic
Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
[Inborn errors of metabolism in adult neurology].
Leukomalacia, Periventricular
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
Liver Cirrhosis, Biliary
An experimental animal model of primary biliary cirrhosis induced by lipopolysaccharide and pyruvate dehydrogenase.
Anti-M4 antibodies in primary biliary cirrhosis react with sulphite oxidase, an enzyme of the mitochondrial inter-membrane space.
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.
Antibodies to carbonic anhydrase in patients with immune cholangiopathies.
Antibodies to pyruvate dehydrogenase in primary biliary cirrhosis: correlation with histology.
Antibody binding and inhibition of pyruvate dehydrogenase (PDH) in sera from patients with primary biliary cirrhosis.
Antimitochondrial antibody heterogeneity and the xenobiotic etiology of primary biliary cirrhosis.
Antimitochondrial antibody recognition and structural integrity of the inner lipoyl domain of the e2 subunit of pyruvate dehydrogenase complex.
Antimitochondrial autoantibodies in anti-glomerular basement membrane disease.
Antimitochondrial autoantibodies of primary biliary cirrhosis as a novel probe in the study of 2-oxo acid dehydrogenases in patients with mitochondrial myopathies.
Autoantibodies against subunits of pyruvate dehydrogenase and citrate synthase in a case of paediatric biliary cirrhosis.
Autoantibodies in breast cancer sera are not epiphenomena and may participate in carcinogenesis.
Autoantibodies to mitochondrial and centromere antigens in primary biliary cirrhosis and systemic sclerosis.
Autoreactivity to lipoate and a conjugated form of lipoate in primary biliary cirrhosis.
Characterization of the autoantibody responses to recombinant E3 binding protein (protein X) of pyruvate dehydrogenase in primary biliary cirrhosis.
Comparative epitope mapping of murine monoclonal and human autoantibodies to human PDH-E2, the major mitochondrial autoantigen of primary biliary cirrhosis.
Cryptic antigenic determinants on the extracellular pyruvate dehydrogenase complex/mimeotope found in primary biliary cirrhosis. A probe by affinity mass spectrometry.
Demonstration of peptide-specific and cross-reactive epitopes in proteins reacting with antimitochondrial antibodies of primary biliary cirrhosis.
Detection of anti-mitochondrial antibodies by immunoprecipitation in patients with systemic sclerosis.
Disease-specific cross-reactivity between mimicking peptides of heat shock protein of Mycobacterium gordonae and dominant epitope of E2 subunit of pyruvate dehydrogenase is common in Spanish but not British patients with primary biliary cirrhosis.
Distinct costimulation dependent and independent autoreactive T-cell clones in primary biliary cirrhosis.
Distribution of dihydrolipoamide acetyltransferase (E2) in the liver and portal lymph nodes of patients with primary biliary cirrhosis: an immunohistochemical study.
Distribution of pyruvate dehydrogenase dihydrolipoamide acetyltransferase (PDC-E2) and another mitochondrial marker in salivary gland and biliary epithelium from patients with primary biliary cirrhosis.
Enzyme inhibitory antibody to pyruvate dehydrogenase: diagnostic utility in primary biliary cirrhosis.
Enzyme-linked immunosorbent assays for the determination of IgG, IgA, and IgM autoantibodies to pyruvate dehydrogenase in primary biliary cirrhosis.
Fine phenotypic and functional characterization of effector CD8(+) T cells in patients with primary biliary cirrhosis.
Gut-liver axis: an immune link between celiac disease and primary biliary cirrhosis.
Hepatitic bile duct injuries in chronic hepatitis C: histopathologic and immunohistochemical studies.
Heterogeneity of combinatorial human autoantibodies against PDC-E2 and biliary epithelial cells in patients with primary biliary cirrhosis.
Immunization of experimental animals with dihydrolipoamide acetyltransferase, as a purified recombinant polypeptide, generates mitochondrial antibodies but not primary biliary cirrhosis.
Immunoblotting as a confirmatory test for antimitochondrial antibodies in primary biliary cirrhosis.
Immunoglobulin gene usage and immunohistochemical characteristics of human monoclonal antibodies to the mitochondrial autoantigens of primary biliary cirrhosis induced in the XenoMouse.
Immunopathology of primary biliary cirrhosis.
Immunoreactivity of organic mimeotopes of the E2 component of pyruvate dehydrogenase: connecting xenobiotics with primary biliary cirrhosis.
In situ nucleic acid hybridization of pyruvate dehydrogenase complex-E2 in primary biliary cirrhosis: pyruvate dehydrogenase complex-E2 messenger RNA is expressed in hepatocytes but not in biliary epithelium.
Induction of autoimmune cholangitis in non-obese diabetic (NOD).1101 mice following a chemical xenobiotic immunization.
Infectious agents in the pathogenesis of primary biliary cirrhosis.
Inhibition of alpha-ketoglutarate dehydrogenase activity by a distinct population of autoantibodies recognizing dihydrolipoamide succinyltransferase in primary biliary cirrhosis.
Inhibition of enzyme function by human autoantibodies to an autoantigen pyruvate dehydrogenase E2: different epitope for spontaneous human and induced rabbit autoantibodies.
Isolation of human anti-branched chain alpha-oxo acid dehydrogenase-E2 recombinant antibodies by Ig repertoire cloning in idiopathic dilated cardiomyopathy.
Microbial mimics are major targets of crossreactivity with human pyruvate dehydrogenase in primary biliary cirrhosis.
Molecular mimicry in primary biliary cirrhosis. Evidence for biliary epithelial expression of a molecule cross-reactive with pyruvate dehydrogenase complex-E2.
Oral tolerance and pyruvate dehydrogenase in patients with primary biliary cirrhosis.
Phenotypical and functional alterations of CD8 regulatory T cells in primary biliary cirrhosis.
Primary biliary cirrhosis and Sjögren's syndrome: Autoimmune epithelitis.
Primary biliary cirrhosis. Inhibition of pyruvate dehydrogenase complex activity by autoantibodies specific for E1 alpha, a non-lipoic acid containing mitochondrial enzyme.
Pyruvate dehydrogenase specific T cells in primary biliary cirrhosis show restricted antigen recognition sites.
Serum reactivity against bacterial pyruvate dehydrogenase: increasing the specificity of anti-mitochondrial antibodies for the diagnosis of primary biliary cirrhosis.
Sjögren's syndrome and primary biliary cirrhosis: presence of autoantibodies to purified mitochondrial 2-OXO acid dehydrogenases.
Specific reactivity of recombinant human PDC-E1 alpha in primary biliary cirrhosis.
Structural requirement for autoreactivity on human pyruvate dehydrogenase-E2, the major autoantigen of primary biliary cirrhosis. Implication for a conformational autoepitope.
T cell responses to natural human proteins in primary biliary cirrhosis.
TCR? repertoire of memory T cell reveals potential role for Escherichia coli in the pathogenesis of primary biliary cholangitis.
The antinuclear autoantibodies Sp100 and gp210 persist after orthotopic liver transplantation in patients with primary biliary cirrhosis.
The Critical Role of Chemokine (C-C Motif) Receptor 2-Positive Monocytes in Autoimmune Cholangitis.
The human biliary epithelial cell plasma membrane antigen in primary biliary cirrhosis: pyruvate dehydrogenase X?
Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis.
Ursodeoxycholic acid treatment lowers the serum level of antibodies against pyruvate dehydrogenase and influences their inhibitory capacity for the enzyme complex in patients with primary biliary cirrhosis.
[Abnormal expression of pyruvate dehydrogenase on bile ducts opens new fields in the pathogenesis of primary biliary cirrhosis]
[Primary biliary cirrhosis--specific anti-mitochondrial antibodies]
Liver Diseases
Antibodies to carbonic anhydrase in patients with immune cholangiopathies.
Autoantibodies to mitochondrial and centromere antigens in primary biliary cirrhosis and systemic sclerosis.
Hepatic pyruvate dehydrogenase activity in humans: effect of cirrhosis, transplantation, and dichloroacetate.
Infectious agents in the pathogenesis of primary biliary cirrhosis.
Inhibition of enzyme function by human autoantibodies to an autoantigen pyruvate dehydrogenase E2: different epitope for spontaneous human and induced rabbit autoantibodies.
Lactic acidosis update for critical care clinicians.
Pyruvate Dehydrogenase as a Therapeutic Target for Nonalcoholic Fatty Liver Disease.
The antianginal ranolazine mitigates obesity-induced nonalcoholic fatty liver disease and increases hepatic pyruvate dehydrogenase activity.
The antinuclear autoantibodies Sp100 and gp210 persist after orthotopic liver transplantation in patients with primary biliary cirrhosis.
Liver Failure, Acute
Antimitochondrial antibodies in acute liver failure: Implications for primary biliary cirrhosis.
Liver Neoplasms
Inhibition of hepatocellular carcinoma by metabolic normalization.
Liver Neoplasms, Experimental
Regulation of energy metabolism in Morris hepatoma 7777 and 7800.
Lung Neoplasms
Inhibiting Glycine Decarboxylase Suppresses Pyruvate-to-Lactate Metabolism in Lung Cancer Cells.
Pyruvate dehydrogenase and pyruvate dehydrogenase kinase expression in non small cell lung cancer and tumor-associated stroma.
Lysosomal Storage Diseases
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Macular Degeneration
Pyruvate dehydrogenase kinase/lactate axis: a therapeutic target for neovascular age-related macular degeneration identified by metabolomics.
Malaria
Dichloroacetate for lactic acidosis in severe malaria: a pharmacokinetic and pharmacodynamic assessment.
Malaria, Cerebral
Dichloroacetate (DCA) reduces brain lactate but increases brain glutamine in experimental cerebral malaria: a 1H-NMR study.
Maple Syrup Urine Disease
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Ataxia.
Branched chain keto-acids exert biphasic effects on alpha-ketoglutarate-stimulated respiration in intact rat liver mitochondria.
Congenital lactic acidosis, alpha-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single enzyme defect: dihydrolipoyl dehydrogenase deficiency.
Defects of thiamine transport and metabolism.
Newborn screening for dihydrolipoamide dehydrogenase deficiency: Citrulline as a useful analyte.
Orthopaedic Problems in 35 Patients With Organic Acid Disorders.
Pyruvate dehydrogenase subcomplex with lipoamide dehydrogenase deficiency in a patient with lactic acidosis and branched chain ketoaciduria.
Melanoma
A key role for mitochondrial gatekeeper pyruvate dehydrogenase in oncogene-induced senescence.
MiR-370 functions as oncogene in melanoma by direct targeting pyruvate dehydrogenase B.
MELAS Syndrome
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
Metabolic Diseases
Hepatic HAX-1 inactivation prevents metabolic diseases by enhancing mitochondrial activity and bile salt export.
Loss of metabolic flexibility as a result of overexpression of pyruvate dehydrogenase kinases in muscle, liver and the immune system: Therapeutic targets in metabolic diseases.
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Structural alterations induced by ten disease-causing mutations of human dihydrolipoamide dehydrogenase analyzed by hydrogen/deuterium-exchange mass spectrometry: Implications for the structural basis of E3 deficiency.
Microphthalmos
Pyruvate dehydrogenase has a major role in mast cell function, and its activity is regulated by mitochondrial microphthalmia transcription factor.
Migraine Disorders
Ataxia.
Miller Fisher Syndrome
Ataxia.
Mitochondrial Diseases
Acute flaccid paralysis as initial symptom in 4 patients with novel e1alpha mutations of the pyruvate dehydrogenase complex.
An immunocytochemical approach to detection of mitochondrial disorders.
Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review.
Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase.
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.
Pyruvate dehydrogenase deficiency.
The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.
Mitochondrial Myopathies
[Lactic acid acidosis with mitochondrial myopathy due to a pyruvate dehydrogenase deficiency]
Motor Neuron Disease
Glutamate dehydrogenase deficiency in spinocerebellar degenerations.
Multiple Acyl Coenzyme A Dehydrogenase Deficiency
Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
Multiple Myeloma
Proteomic analysis of oridonin-induced apoptosis in multiple myeloma cells.
Multiple Sclerosis
Ataxia.
Muscle Hypotonia
Case Report of Pyruvate Dehydrogenase Deficiency With Unusual Increase of Fats During Ketogenic Diet Treatment.
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Isolated capillary proliferation in Leigh's syndrome.
Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Muscular Diseases
A metabolic switching hypothesis for the first step in the hypolipidemic effects of fibrates.
Renal manifestations of primary mitochondrial disorders.
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
Mycoplasma Infections
Effect of mycoplasma infection on pyruvate dehydrogenase complex activity of normal and pyruvate dehydrogenase complex-deficient fibroblasts.
Myocardial Ischemia
Effects of ischemia and reperfusion on pyruvate dehydrogenase activity in isolated rat hearts.
Enhanced glucose oxidation in exercise-induced myocardial ischemia.
Synthesis of ranolazine metabolites and their anti-myocardial ischemia activities.
[Efficiency of trimetazidine treatment of experimental ischemic heart disease in age aspect].
[Ischemic heart disease and left ventricular dysfunction: the role of trimetazidine]
nadh:ubiquinone reductase (h+-translocating) deficiency
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results.
Nasopharyngeal Carcinoma
Pyruvate dehydrogenase B promoted the growth and migration of the nasopharyngeal carcinoma cells.
Neoplasm Metastasis
Novel molecular mechanisms of antitumor action of dichloroacetate against T cell lymphoma: Implication of altered glucose metabolism, pH homeostasis and cell survival regulation.
Neoplasms
A combination of alpha lipoic acid and calcium hydroxycitrate is efficient against mouse cancer models: preliminary results.
A key role for mitochondrial gatekeeper pyruvate dehydrogenase in oncogene-induced senescence.
Ammonium ions enhance the flow through the pyruvate dehydrogenase in Ehrlich ascites tumor cells.
Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review.
Antiglioma pseurotin A from marine Bacillus sp. FS8D regulating tumour metabolic enzymes.
Assessment of early diabetic renal changes with hyperpolarized [1-(13) C]pyruvate.
Ataxia.
Cell-surface G-protein-coupled receptors for tumor-associated metabolites: A direct link to mitochondrial dysfunction in cancer.
Compartmentalized activities of the pyruvate dehydrogenase complex sustain lipogenesis in prostate cancer.
Development of Dihydroxyphenyl Sulfonylisoindoline Derivatives as Liver-Targeting Pyruvate Dehydrogenase Kinase Inhibitors.
Development of pyruvate dehydrogenase kinase inhibitors in medicinal chemistry with particular emphasis as anticancer agents.
Development of the First Generation of Disulfide-Based Subtype-Selective and Potent Covalent Pyruvate Dehydrogenase Kinase 1 (PDK1) Inhibitors.
Dichloroacetate and Pyruvate Metabolism: Pyruvate Dehydrogenase Kinases as Targets Worth Investigating for Effective Therapy of Toxoplasmosis.
Discovery of novel pyruvate dehydrogenase kinases inhibitors by screening of an in-house small molecule library for anti-lung cancer therapeutics.
Effects of HIF-1alpha and HIF2alpha on Growth and Metabolism of Clear-Cell Renal Cell Carcinoma 786-0 Xenografts.
Engineered drug-protein nanoparticle complexes for folate receptor targeting.
Epigallocatechin-3-gallate downregulates PDHA1 interfering the metabolic pathways in human herpesvirus 8 harboring primary effusion lymphoma cells.
Expression of type 2 hexokinase and mitochondria-related genes in gastric carcinoma tissues and cell lines.
Gluconeogenesis in the liver of tumor rats.
GSTZ1 genotypes correlate with dichloroacetate pharmacokinetics and chronic side effects in multiple myeloma patients in a pilot phase 2 clinical trial.
Hemistepsin A suppresses colorectal cancer growth through inhibiting pyruvate dehydrogenase kinase activity.
High-dose vitamin B1 reduces proliferation in cancer cell lines analogous to dichloroacetate.
High-throughput screening of novel pyruvate dehydrogenase kinases inhibitors and biological evaluation of their in vitro and in vivo antiproliferative activity.
Hypoxia enhances antitumor activity of dichloroacetate.
Hypoxic repression of pyruvate dehydrogenase activity is necessary for metabolic reprogramming and growth of model tumours.
Identification of an AMP-activatable pyruvate dehydrogenase isozyme in embryos and tumors.
Identification of Novel Pyruvate Dehydrogenase Kinase 1 (PDK1) Inhibitors by Kinase Activity-Based High-Throughput Screening for Anticancer Therapeutics.
Identification of Novel Resorcinol Amide Derivatives as Potent and Specific Pyruvate Dehydrogenase Kinase (PDHK) Inhibitors.
Identification of pyruvate dehydrogenase kinase 1 inhibitors with anti-osteosarcoma activity.
Ilimaquinone Induces the Apoptotic Cell Death of Cancer Cells by Reducing Pyruvate Dehydrogenase Kinase 1 Activity.
In vitro cytotoxicity screening to identify novel anti-osteosarcoma therapeutics targeting pyruvate dehydrogenase kinase 2.
Inhibiting Glycine Decarboxylase Suppresses Pyruvate-to-Lactate Metabolism in Lung Cancer Cells.
Key Roles of Glutamine Pathways in Reprogramming the Cancer Metabolism.
Kinetic and regulatory properties of pyruvate dehydrogenase from Ehrlich ascites tumor cells.
Lactate-mediated mitoribosomal defects impair mitochondrial oxidative phosphorylation and promote hepatoma cell invasiveness.
Lipoic acid inhibits cell proliferation of tumor cells in vitro and in vivo.
Lung Cancer: A Comparative Study of Metabolism Related Protein Expression in Cancer Cells and Tumor Associated Stroma.
Metabolic Flexibility in Cancer: Targeting the Pyruvate Dehydrogenase Kinase:Pyruvate Dehydrogenase Axis.
Metabolic signatures of renal cell carcinoma.
Metabolic targeting as an anticancer strategy: dawn of a new era?
Microenvironmental control of glucose metabolism in tumors by regulation of pyruvate dehydrogenase.
miR-26a enhances colorectal cancer cell growth by targeting RREB1 deacetylation to activate AKT-mediated glycolysis.
miR?21?5p targets PDHA1 to regulate glycolysis and cancer progression in gastric cancer.
Mitochondrial Dysfunction and Disturbed Coherence: Gate to Cancer.
Modelling pyruvate dehydrogenase under hypoxia and its role in cancer metabolism.
Multiple effects of amobarbital on Ehrlich ascites tumor cells. Inhibition of pyruvate dehydrogenase.
Novel molecular mechanisms of antitumor action of dichloroacetate against T cell lymphoma: Implication of altered glucose metabolism, pH homeostasis and cell survival regulation.
Obesity-associated, but not obesity-independent, tumors respond to insulin by increasing mitochondrial glucose oxidation.
Overexpression of pyruvate dehydrogenase kinase 3 increases drug resistance and early recurrence in colon cancer.
PDHA1 gene knockout in prostate cancer cells results in metabolic reprogramming towards greater glutamine dependence.
PDK-1 mediated Hippo-YAP-IRS2 signaling pathway and involved in the apoptosis of non-small cell lung cancer cells.
PDK-1 regulates lactate production in hypoxia and is associated with poor prognosis in head and neck squamous cancer.
Pharmacologically inhibiting phosphoglycerate kinase 1 for glioma with NG52.
Phosphorylated form of pyruvate dehydrogenase ?1 mediates tumor necrosis factor ?-induced glioma cell migration.
Poldip2 is an oxygen-sensitive protein that controls PDH and ?KGDH lipoylation and activation to support metabolic adaptation in hypoxia and cancer.
Prognostic role of glycolysis for cancer outcome: evidence from 86 studies.
Pyruvate dehydrogenase kinase as a novel therapeutic target in oncology.
Pyruvate Dehydrogenase Kinases: Therapeutic Targets for Diabetes and Cancers.
Pyruvate Dehydrogenase PDH-E1? Controls Tumor Progression by Altering the Metabolic Status of Cancer Cells.
Rational combination with PDK1 inhibition overcomes cetuximab resistance in head and neck squamous cell carcinoma.
Re: Jinjing Chen, Ilaria Guccini, Diletta Di Mitri, et al. Compartmentalized Activities of the Pyruvate Dehydrogenase Complex Sustain Lipogenesis in Prostate Cancer. Nat Genet 2018;50:219-28: Lipid Metabolism in Prostate Cancer: Expanding Patient Therapeutic Opportunities.
Regulation of energy metabolism in Morris hepatoma 7777 and 7800.
SIRT3 deacetylates and increases pyruvate dehydrogenase activity in cancer cells.
Src drives the Warburg effect and therapy resistance by inactivating pyruvate dehydrogenase through tyrosine-289 phosphorylation.
Subpopulation targeting of pyruvate dehydrogenase and GLUT1 decouples metabolic heterogeneity during collective cancer cell invasion.
Succinate aggravates NAFLD progression to liver cancer on the onset of obesity: An in silico model.
Synthesis and biological evaluation of (R)-3,3,3-trifluoro-2-hydroxy-2-methylpropionamides as pyruvate dehydrogenase kinase 1 (PDK1) inhibitors to reduce the growth of cancer cells.
Synthesis, biological evaluation and structure-activity relationship of novel dichloroacetophenones targeting pyruvate dehydrogenase kinases with potent anticancer activity.
Synthetic Essentiality of Metabolic Regulator PDHK1 in PTEN-Deficient Cells and Cancers.
T cells critically depend on pyruvate oxidation.
Targeting PDK1 with dichloroacetophenone to inhibit acute myeloid leukemia (AML) cell growth.
Targeting thiamine-dependent enzymes for metabolic therapies in oral squamous cell carcinoma?
Targeting Tumor Metabolism for Cancer Treatment: Is Pyruvate Dehydrogenase Kinases (PDKs) a Viable Anticancer Target?
The HGF-MET axis coordinates liver cancer metabolism and autophagy for chemotherapeutic resistance.
The Importance of Gender-Related Anticancer Research on Mitochondrial Regulator Sodium Dichloroacetate in Preclinical Studies In Vivo.
The novel function of tumor protein D54 in regulating pyruvate dehydrogenase and metformin cytotoxicity in breast cancer.
The right ventricle in pulmonary arterial hypertension: disorders of metabolism, angiogenesis and adrenergic signaling in right ventricular failure.
Theoretical aspects of weight loss in patients with cancer. Possible importance of pyruvate dehydrogenase.
Therapeutic Targeting of the Pyruvate Dehydrogenase Complex/Pyruvate Dehydrogenase Kinase (PDC/PDK) Axis in Cancer.
Tyr-94 phosphorylation inhibits pyruvate dehydrogenase phosphatase 1 and promotes tumor growth.
Unexpected Discovery of Dichloroacetate Derived Adenosine Triphosphate Competitors Targeting Pyruvate Dehydrogenase Kinase To Inhibit Cancer Proliferation.
Viral-mimicking protein nanoparticle vaccine for eliciting anti-tumor responses.
[Activity of the pyruvate dehydrogenase complex in Walker-256 carcinosarcoma]
[Effects of stromal cells derived from the normal prostate on the glycolysis of prostate cancer cells].
[REPROGRAMMING OF MITOCHONDRIAL ENERGY METABOLISM IN MALIGNANT NEOPLASMS].
[S35 lipoic acid distribution and its effect on pyruvate dehydrogenase activity in rats with Walker carcinoma]
Nephritis
HUANGKUISIWUFANG inhibits pyruvate dehydrogenase to improve glomerular injury in anti-Thy1 nephritis model.
Nervous System Diseases
Metabolic reprogramming by the pyruvate dehydrogenase kinase-lactic acid axis: Linking metabolism and diverse neuropathophysiologies.
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Neuroblastoma
Ataxia.
Cellular effects of endotoxin in vitro. II. Reversibility of endotoxic damage.
RS-alpha-lipoic acid protects cholinergic cells against sodium nitroprusside and amyloid-beta neurotoxicity through restoration of acetyl-CoA level.
Neurodegenerative Diseases
CoA-dependent activation of mitochondrial acyl carrier protein links four neurodegenerative diseases.
Neuroinflammatory Diseases
Mitochondrial metabolism: a common link between neuroinflammation and neurodegeneration.
Neurologic Manifestations
Cerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency.
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Neuromuscular Diseases
Pyruvate oxidation in Charcot-Marie-Tooth disease.
Non-alcoholic Fatty Liver Disease
Pyruvate Dehydrogenase as a Therapeutic Target for Nonalcoholic Fatty Liver Disease.
The antianginal ranolazine mitigates obesity-induced nonalcoholic fatty liver disease and increases hepatic pyruvate dehydrogenase activity.
Obesity
Adipocyte glycogen synthase and pyruvate dehydrogenase in obese and type II diabetic subjects.
Age-related changes in liver and adipose tissue pyruvate dehydrogenase of genetically obese mice.
Changes in glycogen metabolism in liver of gold thioglucose injected mice during the development of obesity.
Development of Dihydroxyphenyl Sulfonylisoindoline Derivatives as Liver-Targeting Pyruvate Dehydrogenase Kinase Inhibitors.
Different types of postinsulin receptor defects contribute to insulin resistance in hearts of obese Zucker rats.
Dose-response characteristics of impaired glucose oxidation in non-insulin-dependent diabetes mellitus.
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.
Postnatal induction of muscle fatty acid oxidation in mice differing in propensity to obesity: a role of pyruvate dehydrogenase.
Proportion of active dephosphorylated pyruvate dehydrogenase complex in heart and isolated heart mitochondria is decreased in obese hyperinsulinaemic mice.
Pyruvate and hepatic pyruvate dehydrogenase levels in rat strains sensitive and resistant to dietary obesity.
Pyruvate dehydrogenase as a therapeutic target for obesity cardiomyopathy.
The activity of the pyruvate dehydrogenase complex in heart and liver from mice during the development of obesity and insulin resistance.
The effect of diet composition on weight gain and pyruvate dehydrogenase activity in heart muscle in the gold thioglucose obese mouse.
Tissue differences in the response of the pyruvate dehydrogenase complex to a glucose load during the development of obesity in gold-thioglucose-obese mice.
Ophthalmoplegia
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
Ophthalmoplegia, Chronic Progressive External
Renal manifestations of primary mitochondrial disorders.
Optic Atrophy, Autosomal Dominant
Deterioration of mitochondrial bioenergetics and ultrastructure impairment in skeletal muscle of a transgenic minipig model in the early stages of Huntington's disease.
Optic Atrophy, Hereditary, Leber
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Renal manifestations of primary mitochondrial disorders.
Optic Nerve Diseases
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Optic neuropathy in a patient with pyruvate dehydrogenase deficiency.
Renal manifestations of primary mitochondrial disorders.
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.
Optic Neuropathy, Ischemic
A pyruvate dehydrogenase kinase inhibitor prevents retinal cell death and improves energy metabolism in rat retinas after ischemia/reperfusion injury.
ornithine carbamoyltransferase deficiency
Ataxia.
Impact of selected inborn errors of metabolism on prenatal and neonatal development.
Ornithine Carbamoyltransferase Deficiency Disease
Ataxia.
Impact of selected inborn errors of metabolism on prenatal and neonatal development.
Ovarian Diseases
Sensitivity of pyruvate dehydrogenase to insulin in activated T lymphocytes. Lack of responsiveness to insulin in patients with polycystic ovarian disease and diabetes.
Ovarian Neoplasms
Multiple blocks in the engagement of oxidative phosphorylation in putative ovarian cancer stem cells: implication for maintenance therapy with glycolysis inhibitors.
peptidyl-glutamate 4-carboxylase deficiency
Defects of pyruvate metabolism and the Krebs cycle.
Perinatal Death
Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.
Peripheral Nervous System Diseases
Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.
Peroxisomal Disorders
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Lactate oxidation for the detection of mitochondrial dysfunction in human skin fibroblasts.
[Inborn errors of metabolism in adult neurology].
Persistent Infection
Mycoplasma genitalium rapidly disseminates to the upper reproductive tracts and knees of female mice following vaginal inoculation.
Phenylketonuria, Maternal
Inborn errors of metabolism: a cause of abnormal brain development.
Phenylketonurias
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Effect of phenylpyruvate on pyruvate dehydrogenase activity in rat brain mitochondria.
Pick Disease of the Brain
Enzyme activities in relation to pH and lactate in postmortem brain in Alzheimer-type and other dementias.
[Inborn errors of metabolism in adult neurology].
Polycystic Ovary Syndrome
Opposing actions of dehydroepiandrosterone and testosterone on insulin sensitivity. In vivo and in vitro studies of hyperandrogenic females.
Polymicrogyria
Cerebral white matter involvement in children with mitochondrial encephalopathies.
Porphyrias
Metabolic neuropathies and myopathies.
[Inborn errors of metabolism in adult neurology].
Propionic Acidemia
Orthopaedic Problems in 35 Patients With Organic Acid Disorders.
Prostatic Neoplasms
Compartmentalized activities of the pyruvate dehydrogenase complex sustain lipogenesis in prostate cancer.
Differential effects of specific amino acid restriction on glucose metabolism, reduction/oxidation status and mitochondrial damage in DU145 and PC3 prostate cancer cells.
Pyruvate dehydrogenase alpha 1 as a target of omega-3 polyunsaturated fatty acids in human prostate cancer through a global phosphoproteomic analysis.
Pyruvate dehydrogenase expression is negatively associated with cell stemness and worse clinical outcome in prostate cancers.
Re: Jinjing Chen, Ilaria Guccini, Diletta Di Mitri, et al. Compartmentalized Activities of the Pyruvate Dehydrogenase Complex Sustain Lipogenesis in Prostate Cancer. Nat Genet 2018;50:219-28: Lipid Metabolism in Prostate Cancer: Expanding Patient Therapeutic Opportunities.
Protein Deficiency
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.
Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis.
Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia.
Pyruvate dehydrogenase E3 binding protein deficiency.
Pulmonary Arterial Hypertension
Epigenetic Metabolic Reprogramming of Right Ventricular Fibroblasts in Pulmonary Arterial Hypertension: A Pyruvate Dehydrogenase Kinase-Dependent Shift in Mitochondrial Metabolism Promotes Right Ventricular Fibrosis.
Pyruvate dehydrogenase inhibition by the inflammatory cytokine TNF? contributes to the pathogenesis of pulmonary arterial hypertension.
pyruvate carboxylase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Disorders of pyruvate metabolism.
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.
Pyruvate Carboxylase Deficiency Disease
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Disorders of pyruvate metabolism.
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.
pyruvate decarboxylase deficiency
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
pyruvate dehydrogenase (acetyl-transferring) deficiency
An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1?.
Autopsy findings in pyruvate dehydrogenase E1alpha deficiency: case report.
Beta cell-specific pyruvate dehydrogenase deficiency impairs glucose-stimulated insulin secretion.
Gene therapy for pyruvate dehydrogenase E1alpha deficiency using recombinant adeno-associated virus 2 (rAAV2) vectors.
Immunocapture and microplate-based activity measurement of mammalian pyruvate dehydrogenase complex.
In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.
Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
Phenyl butyrate inhibits pyruvate dehydrogenase kinase 1 and contributes to its anti-cancer effect.
Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
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.
[Analysis of PDHA1 gene variant in a patient with pyruvate dehydrogenase E1alpha deficiency and pyramidal tract involvement].
pyruvate dehydrogenase (nadp+) deficiency
A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate.
A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency.
A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.
Acute flaccid paralysis as initial symptom in 4 patients with novel e1alpha mutations of the pyruvate dehydrogenase complex.
Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
An immunochemical assay model system for the sensitive detection of pyruvate dehydrogenase complex (PDHc) and its decarboxylating subunit pyruvate dehydrogenase (E1).
An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle.
Anaesthesia and pyruvate dehydrogenase deficiency.
Anaesthesia in pyruvate dehydrogenase deficiency.
Anesthesia in a child with pyruvate dehydrogenase deficiency.
Anesthesia in a child with pyruvate dehydrogenase deficiency: a case report.
Anesthesia in pyruvate dehydrogenase deficiency.
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
Ataxia.
Beta cell-specific pyruvate dehydrogenase deficiency impairs glucose-stimulated insulin secretion.
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
Biochemical and structural brain alterations in female mice with cerebral pyruvate dehydrogenase deficiency.
Blood-brain barrier, ion homeostatis and epilepsy: possible implications towards the understanding of ketogenic diet mechanisms.
Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.
Case Report of Pyruvate Dehydrogenase Deficiency With Unusual Increase of Fats During Ketogenic Diet Treatment.
Cerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency.
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Cerebral white matter involvement in children with mitochondrial encephalopathies.
Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Clinical diversity of pyruvate dehydrogenase deficiency.
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Considerations on the management of pyruvate dehydrogenase deficiency.
Continuous pH monitoring using the Paratrend 7 inserted into a peripheral vein in a patient with shock and congenital lactic acidosis.
Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children.
Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brain.
Defects of pyruvate metabolism and the Krebs cycle.
Defects of thiamine transport and metabolism.
Determination of pyruvate dehydrogenase in cultured human fibroblasts and amniotic fluid cells.
Development of subdural effusions in association with pyruvate dehydrogenase deficiency.
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency.
Disorders of the pyruvate dehydrogenase complex.
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions.
DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.
E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.
Enzymatic pyruvate measurement by Cobas 6000 open channel assay.
Evoked potentials in children with oxidative metabolic defects leading to Leigh syndrome.
Fatal case of pyruvate dehydrogenase deficiency.
Females with PDHA1 gene mutations: a diagnostic challenge.
Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.
Food and Food Products on the Italian Market for Ketogenic Dietary Treatment of Neurological Diseases.
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Gene regulation and genetic defects in the pyruvate dehydrogenase complex.
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.
Glucose transporter 1 deficiency syndrome and other glycolytic defects.
Glutamate and pyruvate dehydrogenase deficiency in spinocerebellar degeneration.
Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.
Histological changes of muscle in a patient with pyruvate dehydrogenase deficiency.
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.
Immunological approaches to the characterization and diagnosis of mitochondrial disease.
Impact of selected inborn errors of metabolism on prenatal and neonatal development.
In utero central nervous system damage in pyruvate dehydrogenase deficiency.
In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.
Inborn errors of metabolism: a cause of abnormal brain development.
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.
Isolated capillary proliferation in Leigh's syndrome.
Ketogenic diet and childhood neurological disorders other than epilepsy: an overview.
Ketogenic diet.
Ketogenic Diet: A New Light Shining on Old but Gold Biochemistry.
Ketogenic diet: an early option for epilepsy treatment, instead of a last choice only.
Ketogenic diets in the treatment of epilepsy.
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.
Ketonic diet in the management of pyruvate dehydrogenase deficiency.
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.
Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.
Late-onset presentation of pyruvate dehydrogenase deficiency.
Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.
Metabolic neuropathies and myopathies.
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
Mitochondrial dysfunction in a patient with Joubert syndrome.
Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.
Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.
Morphological correlates of mitochondrial dysfunction in children.
Moving Metabolism to Make Inroads in a Model of Mitochondrial Epilepsy.
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.
Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia.
Optic neuropathy in a patient with pyruvate dehydrogenase deficiency.
Orthopaedic Problems in 35 Patients With Organic Acid Disorders.
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
Partial complementation of pyruvate dehydrogenase deficiency by independently expressed lipoyl and catalytic domains of the dihydrolipoamide acetyltransferase component.
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis.
Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.
Pyruvate dehydrogenase deficiency - morphological and metabolic effects, creation of animal model to study and research for treatment therapy.
Pyruvate dehydrogenase deficiency and epilepsy.
Pyruvate dehydrogenase deficiency and the brain.
Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.
Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.
Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit.
Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes.
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.
Pyruvate dehydrogenase deficiency in 35 patients.
Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment.
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.
Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.
Pyruvate dehydrogenase deficiency in a Sussex spaniel.
Pyruvate dehydrogenase deficiency in spinocerebellar degenerations.
Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Pyruvate dehydrogenase deficiency restricted to brain.
Pyruvate dehydrogenase deficiency.
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.
Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia.
Pyruvate dehydrogenase E3 binding protein deficiency.
Pyruvate Dehydrogenase-E1? Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation.
Rapid diagnosis of pyruvate and ketoglutarate dehydrogenase deficiencies in platelet-enriched preparations from blood.
Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency.
Renal manifestations of primary mitochondrial disorders.
Respiratory chain deficiencies.
Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.
Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.
Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome.
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Studies of the pathophysiology of pyruvate dehydrogenase deficiency.
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.
Tenuous link between chronic fatigue syndrome and pyruvate dehydrogenase deficiency.
The clinical spectrum of nodular heterotopias in children: Report of 31 patients.
The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.
The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis.
The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.
The importance of cerebrospinal fluid lactate in the evaluation of congenital lactic acidosis.
The Importance of Gender-Related Anticancer Research on Mitochondrial Regulator Sodium Dichloroacetate in Preclinical Studies In Vivo.
The ketogenic diet: uses in epilepsy and other neurologic illnesses.
Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy.
Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency.
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.
Thiamine responsive pyruvate dehydrogenase deficiency.
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene.
Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results.
Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
Urinary lactate excretion in normal children and in children with enzyme defects of carbohydrate metabolism.
Vitamin-Responsive Movement Disorders in Children.
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.
Zonisamide ameliorates symptoms of secondary paroxysmal dystonia.
[A case of pyruvate dehydrogenase deficiency with low density areas in white matter noticed by CT scan]
[Inborn errors of metabolism in adult neurology].
[Lactic acid acidosis with mitochondrial myopathy due to a pyruvate dehydrogenase deficiency]
[Leigh's syndrome and mitochondrial myopathy]
[Pyruvate dehydrogenase deficiency and cerebral malformations]
[Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis]
[Pyruvate-dehydrogenase deficiency. Lethal course of the disease during infancy (author's transl)]
[Treatable hereditary neuro-metabolic diseases]
[Treatment of mitochondrial diseases]
Pyruvate Dehydrogenase Complex Deficiency Disease
A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate.
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.
A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.
A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene.
A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency.
A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1.
A possible mechanism for selective cerebellar damage in partial pyruvate dehydrogenase deficiency.
A putative exonic splicing enhancer in exon 7 of the PDHA1 gene affects splicing of adjacent exons.
A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.
Acute flaccid paralysis as initial symptom in 4 patients with novel e1alpha mutations of the pyruvate dehydrogenase complex.
Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.
Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.
An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1?.
An improved spectrophotometric assay of pyruvate dehydrogenase in lactate dehydrogenase contaminated mitochondrial preparations from human skeletal muscle.
Anaesthesia and pyruvate dehydrogenase deficiency.
Anaesthesia in pyruvate dehydrogenase deficiency.
Anesthesia in a child with pyruvate dehydrogenase deficiency.
Anesthesia in a child with pyruvate dehydrogenase deficiency: a case report.
Anesthesia in pyruvate dehydrogenase deficiency.
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
Ataxia.
Beta cell-specific pyruvate dehydrogenase deficiency impairs glucose-stimulated insulin secretion.
Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy.
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
Biochemical and structural brain alterations in female mice with cerebral pyruvate dehydrogenase deficiency.
Blood-brain barrier, ion homeostatis and epilepsy: possible implications towards the understanding of ketogenic diet mechanisms.
Brain metabolism modulates neuronal excitability in a mouse model of pyruvate dehydrogenase deficiency.
Case Report of Pyruvate Dehydrogenase Deficiency With Unusual Increase of Fats During Ketogenic Diet Treatment.
Cerebral Developmental Abnormalities in a Mouse with Systemic Pyruvate Dehydrogenase Deficiency.
Cerebral dysgenesis and lactic acidemia: an MRI/MRS phenotype associated with pyruvate dehydrogenase deficiency.
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Cerebral white matter involvement in children with mitochondrial encephalopathies.
Characterization of point mutations in patients with pyruvate dehydrogenase deficiency: role of methionine-181, proline-188, and arginine-349 in the alpha subunit.
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
Clinical and biochemical characterization of four patients with mutations in ECHS1.
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.
Clinical diversity of pyruvate dehydrogenase deficiency.
Clinical manifestations in two patients with pyruvate dehydrogenase deficiency and long-term survival.
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Considerations on the management of pyruvate dehydrogenase deficiency.
Continuous pH monitoring using the Paratrend 7 inserted into a peripheral vein in a patient with shock and congenital lactic acidosis.
Controlled clinical trial of dichloroacetate for treatment of congenital lactic acidosis in children.
Cortical metabolism in pyruvate dehydrogenase deficiency revealed by ex vivo multiplet (13)C NMR of the adult mouse brain.
Defects of pyruvate metabolism and the Krebs cycle.
Defects of thiamine transport and metabolism.
Determination of pyruvate dehydrogenase in cultured human fibroblasts and amniotic fluid cells.
Development of subdural effusions in association with pyruvate dehydrogenase deficiency.
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis.
Dichloroacetate stabilizes the mutant E1alpha subunit in pyruvate dehydrogenase deficiency.
Disorders of the pyruvate dehydrogenase complex.
Distinguishing Encephaloclastic Lesions Resulting From Primary or Secondary Pyruvate Dehydrogenase Deficiency From Other Neonatal or Infantile Cavitary Brain Lesions.
DNA diagnosis of pyruvate dehydrogenase deficiency in female patients with congenital lactic acidaemia.
E1 pyruvate dehydrogenase deficiency in a child with motor neuropathy.
Evoked potentials in children with oxidative metabolic defects leading to Leigh syndrome.
Fatal case of pyruvate dehydrogenase deficiency.
Females with PDHA1 gene mutations: a diagnostic challenge.
Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.
Food and Food Products on the Italian Market for Ketogenic Dietary Treatment of Neurological Diseases.
Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency.
Gene regulation and genetic defects in the pyruvate dehydrogenase complex.
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.
Glucose transporter 1 deficiency syndrome and other glycolytic defects.
Glutamate and pyruvate dehydrogenase deficiency in spinocerebellar degeneration.
Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.
Histological changes of muscle in a patient with pyruvate dehydrogenase deficiency.
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.
Impact of selected inborn errors of metabolism on prenatal and neonatal development.
In utero central nervous system damage in pyruvate dehydrogenase deficiency.
In vivo pyruvate detected by MR spectroscopy in neonatal pyruvate dehydrogenase deficiency.
Inborn errors of metabolism: a cause of abnormal brain development.
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.
Isolated capillary proliferation in Leigh's syndrome.
Ketogenic diet and childhood neurological disorders other than epilepsy: an overview.
Ketogenic diet.
Ketogenic Diet: A New Light Shining on Old but Gold Biochemistry.
Ketogenic diet: an early option for epilepsy treatment, instead of a last choice only.
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.
Ketonic diet in the management of pyruvate dehydrogenase deficiency.
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.
Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.
Late-onset presentation of pyruvate dehydrogenase deficiency.
Leigh syndrome: pyruvate dehydrogenase defect. A case with peripheral neuropathy.
Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency.
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence.
Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation.
Metabolic neuropathies and myopathies.
Metabolite studies in HIBCH and ECHS1 defects: Implications for screening.
Mitochondrial dysfunction in a patient with Joubert syndrome.
Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.
Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.
Morphological correlates of mitochondrial dysfunction in children.
Moving Metabolism to Make Inroads in a Model of Mitochondrial Epilepsy.
MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.
Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.
Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.
Neonatal pyruvate dehydrogenase deficiency with lipoate responsive lactic acidaemia and hyperammonaemia.
Nonspecific mitochondrial disease with epilepsy in children: diagnostic approaches and epileptic phenotypes.
Optic neuropathy in a patient with pyruvate dehydrogenase deficiency.
Orthopaedic Problems in 35 Patients With Organic Acid Disorders.
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency.
Partial complementation of pyruvate dehydrogenase deficiency by independently expressed lipoyl and catalytic domains of the dihydrolipoamide acetyltransferase component.
Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency.
Phenyl butyrate inhibits pyruvate dehydrogenase kinase 1 and contributes to its anti-cancer effect.
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
Pitfalls of relying on genetic testing only to diagnose inherited metabolic disorders in non-western populations - 5 cases of pyruvate dehydrogenase deficiency from South Africa.
Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis.
Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.
Prenatal sonographic description of fetuses affected by pyruvate dehydrogenase or pyruvate carboxylase deficiency.
Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the ?V138M variant of human pyruvate dehydrogenase.
Pyruvate dehydrogenase complex deficiency with multiple minor anomalies.
Pyruvate dehydrogenase deficiency - morphological and metabolic effects, creation of animal model to study and research for treatment therapy.
Pyruvate dehydrogenase deficiency and epilepsy.
Pyruvate dehydrogenase deficiency and the brain.
Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.
Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.
Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit.
Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.
Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.
Pyruvate dehydrogenase deficiency caused by deletion of a 7-bp repeat sequence in the E1 alpha gene.
Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes.
Pyruvate dehydrogenase deficiency due to a 20-bp deletion in exon II of the pyruvate dehydrogenase (PDH) E1 alpha gene.
Pyruvate dehydrogenase deficiency due to a mutation of the E1 alpha subunit.
Pyruvate dehydrogenase deficiency in 35 patients.
Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment.
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.
Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.
Pyruvate dehydrogenase deficiency in a Sussex spaniel.
Pyruvate dehydrogenase deficiency in spinocerebellar degenerations.
Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.
Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Pyruvate dehydrogenase deficiency restricted to brain.
Pyruvate dehydrogenase deficiency.
Pyruvate dehydrogenase deficiency. Clinical presentation and molecular genetic characterization of five new patients.
Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis.
Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.
Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency.
Pyruvate dehydrogenase E2 deficiency: A potentially treatable cause of episodic dystonia.
Pyruvate dehydrogenase E3 binding protein deficiency.
Pyruvate Dehydrogenase-E1? Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation.
Reconciling diabetes management and the ketogenic diet in a child with pyruvate dehydrogenase deficiency.
Renal manifestations of primary mitochondrial disorders.
Respiratory chain deficiencies.
Sensitivity to carbohydrate in a patient with familial intermittent lactic acidosis and pyruvate dehydrogenase deficiency.
Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.
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.
Severe Brain Malformations in an Infant With Pyruvate Dehydrogenase Deficiency and Down Syndrome.
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.
Studies of the pathophysiology of pyruvate dehydrogenase deficiency.
Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics.
Tenuous link between chronic fatigue syndrome and pyruvate dehydrogenase deficiency.
The clinical spectrum of nodular heterotopias in children: Report of 31 patients.
The first case with FBXL4 mutation successfully treated with a parenteral ketogenic diet for lactic acidosis.
The genetic heterogeneity of lactic acidosis: occurrence of recognizable inborn errors of metabolism in pediatric population with lactic acidosis.
The human pyruvate dehydrogenase complex. Isolation of cDNA clones for the E1 alpha subunit, sequence analysis, and characterization of the mRNA.
The importance of cerebrospinal fluid lactate in the evaluation of congenital lactic acidosis.
The Importance of Gender-Related Anticancer Research on Mitochondrial Regulator Sodium Dichloroacetate in Preclinical Studies In Vivo.
The ketogenic diet: uses in epilepsy and other neurologic illnesses.
Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy.
Thiamine dependency in a patient with congenital lacticacidaemia due to pyruvate dehydrogenase deficiency.
Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.
Thiamine responsive pyruvate dehydrogenase deficiency.
Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region.
Two Patients with Clinically Distinct Manifestation of Pyruvate Dehydrogenase Deficiency Due to Mutations in PDHA1 Gene.
Ultrastructural examination of skin biopsies may assist in diagnosing mitochondrial cytopathy when muscle biopsies yield negative results.
Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
Urinary lactate excretion in normal children and in children with enzyme defects of carbohydrate metabolism.
Vitamin-Responsive Movement Disorders in Children.
Vitamin-responsive pyruvate dehydrogenase deficiency in a young girl with external ophthalmoplegia, myopathy and lactic acidosis.
X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex.
Zonisamide ameliorates symptoms of secondary paroxysmal dystonia.
[A case of pyruvate dehydrogenase deficiency with low density areas in white matter noticed by CT scan]
[Inborn errors of metabolism in adult neurology].
[Lactic acid acidosis with mitochondrial myopathy due to a pyruvate dehydrogenase deficiency]
[Leigh's syndrome and mitochondrial myopathy]
[Pyruvate dehydrogenase deficiency and cerebral malformations]
[Pyruvate dehydrogenase deficiency in a child with persistent lactic acidosis]
[Pyruvate-dehydrogenase deficiency. Lethal course of the disease during infancy (author's transl)]
[Treatable hereditary neuro-metabolic diseases]
[Treatment of mitochondrial diseases]
pyruvate dehydrogenase system deficiency
Diagnosis of partial deficiency of the pyruvate dehydrogenase complex in biopsied muscle.
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Refsum Disease
[Inborn errors of metabolism in adult neurology].
Renal Insufficiency
Renal manifestations of primary mitochondrial disorders.
Renal Insufficiency, Chronic
Chronic kidney disease reduces muscle mitochondria and exercise endurance and its exacerbation by dietary protein through inactivation of pyruvate dehydrogenase.
Reperfusion Injury
Neuroprotective effect of ethanol and Modafinil on focal cerebral ischemia in rats.
Respiratory Insufficiency
Continuous pH monitoring using the Paratrend 7 inserted into a peripheral vein in a patient with shock and congenital lactic acidosis.
Retinal Vein Occlusion
A pyruvate dehydrogenase kinase inhibitor prevents retinal cell death and improves energy metabolism in rat retinas after ischemia/reperfusion injury.
Retinopathy of Prematurity
A pyruvate dehydrogenase kinase inhibitor prevents retinal cell death and improves energy metabolism in rat retinas after ischemia/reperfusion injury.
Reye Syndrome
Deficient activity of hepatic pyruvate dehydrogenase and pyruvate carboxylase in Reye's syndrome.
Rhabdomyolysis
A metabolic switching hypothesis for the first step in the hypolipidemic effects of fibrates.
Scleroderma, Systemic
Autoantibodies to mitochondrial and centromere antigens in primary biliary cirrhosis and systemic sclerosis.
Detection of anti-mitochondrial antibodies by immunoprecipitation in patients with systemic sclerosis.
Seizures
Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review.
Blood-brain barrier, ion homeostatis and epilepsy: possible implications towards the understanding of ketogenic diet mechanisms.
Case Report of Pyruvate Dehydrogenase Deficiency With Unusual Increase of Fats During Ketogenic Diet Treatment.
Impaired hippocampal glucose metabolism during and after flurothyl-induced seizures in mice: Reduced phosphorylation coincides with reduced activity of pyruvate dehydrogenase.
Ketogenic diet and childhood neurological disorders other than epilepsy: an overview.
Ketone Bodies as a Possible Adjuvant to Ketogenic Diet in PDHc Deficiency but Not in GLUT1 Deficiency.
Sepsis
Dichloroacetate-induced metabolic reprogramming improves lifespan in a Drosophila model of surviving sepsis.
Glucose kinetics and pyruvate dehydrogenase activity in septic rats treated with dichloroacetate.
Immunocapture and microplate-based activity measurement of mammalian pyruvate dehydrogenase complex.
Metabolic effects of partial reversal of pyruvate dehydrogenase activity by dichloroacetate in sepsis.
Pharmacological reversal of abnormal glucose regulation, BCAA utilization, and muscle catabolism in sepsis by dichloroacetate.
Potentiation of decreased pyruvate dehydrogenase activity by inflammatory stimuli in sepsis.
Pyruvate Dehydrogenase Activity Is Decreased in the Peripheral Blood Mononuclear Cells of Patients with Sepsis. A Prospective Observational Trial.
Pyruvate dehydrogenase inactivity is not responsible for sepsis-induced insulin resistance.
Regulation of glucose metabolism by altered pyruvate dehydrogenase activity. I. Potential site of insulin resistance in sepsis.
Role of insulin and glucose oxidation in mediating the protein catabolism of burns and sepsis.
Shock, Septic
Treatment of severe lactic acidosis with dichloroacetate.
Small Cell Lung Carcinoma
Pyruvate dehydrogenase and pyruvate dehydrogenase kinase expression in non small cell lung cancer and tumor-associated stroma.
Spasms, Infantile
Pyruvate dehydrogenase E1alpha subunit deficiency in a female patient: evidence of antenatal origin of brain damage and possible etiology of infantile spasms.
Spinocerebellar Degenerations
Glutamate and pyruvate dehydrogenase deficiency in spinocerebellar degeneration.
Pyruvate dehydrogenase deficiency in spinocerebellar degenerations.
Squamous Cell Carcinoma of Head and Neck
HPV-associated differential regulation of tumor metabolism in oropharyngeal head and neck cancer.
Metformin increases PDH and suppresses HIF-1? under hypoxic conditions and induces cell death in oral squamous cell carcinoma.
Starvation
Active and inactive forms of pyruvate dehydrogenase in rat liver. Effect of starvation and refeeding and of insulin treatment on pyruvate-dehydrogenase interconversion.
Characterization of the isozymes of pyruvate dehydrogenase phosphatase: implications for the regulation of pyruvate dehydrogenase activity.
Cyclic AMP and free fatty acids in the longer-term regulation of pyruvate dehydrogenase kinase in rat soleus muscle.
Diversion of the metabolic flux from pyruvate dehydrogenase to pyruvate oxidase decreases oxidative stress during glucose metabolism in nongrowing Escherichia coli cells incubated under aerobic, phosphate starvation conditions.
Effect of starvation and insulin in vivo on the activity of the pyruvate dehydrogenase complex in rat skeletal muscles.
Effect of starvation on the local and systemic metabolic effects of the lambda-carrageenan wound.
Effects of re-feeding after prolonged starvation on pyruvate dehydrogenase activities in heart, diaphragm and selected skeletal muscles of the rat.
Effects of starvation, diabetes and 2-bromo-alpha-ergocryptine treatment on pyruvate dehydrogenase activity in lactating rat mammary gland.
Fasting decreases the content of D-chiroinositol in human skeletal muscle.
Functional Consequences of PDK4 Deficiency in Doberman Pinscher Fibroblasts.
Glucose metabolism in perfused skeletal muscle. Pyruvate dehydrogenase activity in starvation, diabetes and exercise.
Glucose utilization in heart, diaphragm and skeletal muscle during the fed-to-starved transition.
Halothane anaesthesia can block insulin stimulation of pyruvate dehydrogenase activity in mammary glands of 24-hour starved lactating rats.
Hepatic glycogen synthesis on carbohydrate re-feeding after starvation. A regulatory role for pyruvate dehydrogenase in liver and extrahepatic tissues.
Hepatic pyruvate dehydrogenase kinase activities during the starved-to-fed transition.
Immunocapture and microplate-based activity measurement of mammalian pyruvate dehydrogenase complex.
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 reverses effects of starvation on the activity of pyruvate dehydrogenase kinase in cultured hepatocytes.
Longer-term regulation of pyruvate dehydrogenase kinase in cultured rat cardiac myocytes.
Modifications of citric acid cycle activity and gluconeogenesis in streptozotocin-induced diabetes and effects of metformin.
Nutrient deprivation induces the Warburg effect through ROS/AMPK-dependent activation of pyruvate dehydrogenase kinase.
Occupancy of sites of phosphorylation in inactive rat heart pyruvate dehydrogenase phosphate in vivo.
Pyruvate dehydrogenase activities during the fed-to-starved transition and on re-feeding after acute or prolonged starvation.
Pyruvate dehydrogenase kinase/activator in rat heart mitochondria, Assay, effect of starvation, and effect of protein-synthesis inhibitors of starvation.
Regulation of fatty acid synthesis in lactating rat mammary gland in the fed to starved transition: asynchronous control of pyruvate dehydrogenase, phosphofructokinase and acetyl-CoA carboxylase.
Regulation of pyruvate dehydrogenase and pyruvate dehydrogenase phosphate phosphatase activity in rat epididymal fat-pads. Effects of starvation, alloxan-diabetes and high-fat diet.
Regulation of pyruvate oxidation and the conservation of glucose.
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.
The mode of regulation of pyruvate dehydrogenase of lactating rat mammary gland. Effects of starvation and insulin.
Time courses of the responses of pyruvate dehydrogenase activities to short-term starvation in diaphragm and selected skeletal muscles of the rat.
Stomach Neoplasms
Dichloroacetate attenuates hypoxia-induced resistance to 5-fluorouracil in gastric cancer through the regulation of glucose metabolism.
Expression of pyruvate dehydrogenase is an independent prognostic marker in gastric cancer.
Expression of pyruvate dehydrogenase kinase-1 in gastric cancer as a potential therapeutic target.
Phosphorylated AMP-activated protein kinase expression associated with prognosis for patients with gastric cancer treated with cisplatin-based adjuvant chemotherapy.
Stroke
CPC-211 (Questcor).
Inhibition of prolyl hydroxylases by dimethyloxaloylglycine after stroke reduces ischemic brain injury and requires hypoxia inducible factor-1?.
[Influence of heart work and substrate uptake on the regulation of pyruvate dehydrogenase activity in isolated guinea pig hearts (author's transl)]
Subarachnoid Hemorrhage
First Description of Reduced Pyruvate Dehydrogenase Enzyme Activity Following Subarachnoid Hemorrhage (SAH).
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Urinary organic acids in succinic semialdehyde dehydrogenase deficiency: evidence of alpha-oxidation of 4-hydroxybutyric acid, interaction of succinic semialdehyde with pyruvate dehydrogenase and possible secondary inhibition of mitochondrial beta-oxidation.
Synostosis
Agenesis of the Corpus Callosum and Skeletal Deformities in Two Unrelated Patients: Analysis via MRI and Radiography.
Tangier Disease
[Inborn errors of metabolism in adult neurology].
Thiamine Deficiency
Acetyl-CoA deficit in brain mitochondria in experimental thiamine deficiency encephalopathy.
Activities of thiamine-dependent enzymes in two experimental models of thiamine-deficiency encephalopathy: 1. The pyruvate dehydrogenase complex.
Chronic alcoholism in rats induces a compensatory response, preserving brain thiamine diphosphate, but the brain 2-oxo acid dehydrogenases are inactivated despite unchanged coenzyme levels.
Clinical evaluation and biochemical analyses of thiamine deficiency in Pacific harbor seals (Phoca vitulina) maintained at a zoological facility.
Disturbances of acetyl-CoA, energy and acetylcholine metabolism in some encephalopathies.
Matched Retrospective Cohort Study of Thiamine to Treat Persistent Hyperlactatemia in Pediatric Septic Shock.
Thiamine deficiency decreases steady-state transketolase and pyruvate dehydrogenase but not alpha-ketoglutarate dehydrogenase mRNA levels in three human cell types.
[Changes in the activity of pyruvate dehydrogenase in thiamine deficiency]
[Coenzyme-dependent induction of pyruvate dehydrogenase in thiamine deficiency]
[Importance of water-soluble vitamins as regulatory factors of genetic expression]
[Regulation of pyruvate dehydrogenase activity and dynamics of the isolated perfused guinea pig heart in thiamine deficiency]
Thrombosis
Dichloroacetate, an inhibitor of pyruvate dehydrogenase kinases, inhibits platelet aggregation and arterial thrombosis.
Tics
Targeting Unique Metabolic Properties of Breast Tumor Initiating Cells.
Toxoplasmosis
Dichloroacetate and Pyruvate Metabolism: Pyruvate Dehydrogenase Kinases as Targets Worth Investigating for Effective Therapy of Toxoplasmosis.
transaldolase deficiency
Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.
Tremor
Vitamin-Responsive Movement Disorders in Children.
Tuberculosis
Dihydrolipoamide dehydrogenase-Lpd (Rv0462)-specific T cell recall responses are higher in healthy household contacts of TB: a novel immunodominant antigen from M. tuberculosis.
Mycobacterium tuberculosis appears to lack alpha-ketoglutarate dehydrogenase and encodes pyruvate dehydrogenase in widely separated genes.
Update on Nitazoxanide: A Multifunctional Chemotherapeutic Agent.
Tyrosinemias
Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
Unverricht-Lundborg Syndrome
Ultrastructural examination of the axillary skin biopsy in the diagnosis of metabolic diseases.
Uremia
In chronic uremia, insulin activates receptor kinase but not pyruvate dehydrogenase.
Vaccinia
A mechanism for induction of a hypoxic response by vaccinia virus.
Vasculitis
Ataxia.
Ventricular Dysfunction
Effects of L-propionylcarnitine on ischemia-induced myocardial dysfunction in men with angina pectoris.
Vitamin B 12 Deficiency
Metabolic neuropathies and myopathies.
Vitamin E Deficiency
Clinical Therapeutic Management of Human Mitochondrial Disorders.
Vitamin-Responsive Movement Disorders in Children.
Wiskott-Aldrich Syndrome
Role of Rho-GTPases in megakaryopoiesis.
Xanthomatosis, Cerebrotendinous
[Inborn errors of metabolism in adult neurology].
[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase deficiency
A family with pyruvate dehydrogenase complex deficiency due to a novel C>T substitution at nucleotide position 407 in exon 4 of the X-linked Epsilon1alpha gene.
A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.
Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.
Pyruvate dehydrogenase complex deficiency is linked to regulatory loop disorder in the ?V138M variant of human pyruvate dehydrogenase.