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Disease on EC 3.1.3.43 - [pyruvate dehydrogenase (acetyl-transferring)]-phosphatase

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DISEASE
TITLE OF PUBLICATION
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Acidosis
Characterization of a gene encoding dihydrolipoamide dehydrogenase of the cyanobacterium Synechocystis sp. strain PCC 6803.
Metabolic acidosis inhibits pyruvate oxidation in chick liver by decreasing activity of pyruvate dehydrogenase complex.
The treatment of congenital lactic acidoses.
Acidosis, Lactic
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency.
Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency.
Characterization of a missense mutation at histidine-44 in a pyruvate dehydrogenase-deficient patient.
Congenital lactic acidosis due to a defect of pyruvate dehydrogenase complex (E1). Clinical, biochemical, nerve biopsy study and effect of therapy.
Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery.
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic Acidosis.
Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency.
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.
First characterization of a large deletion of the PDHA 1 gene.
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency.
Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.
In utero central nervous system damage in pyruvate dehydrogenase deficiency.
Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development.
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Lactic acidosis and developmental delay due to deficiency of E3 binding protein (protein X) of the pyruvate dehydrogenase complex.
Lactic acidosis due to a defect in the pyruvate dehydrogenase complex: a possible brain pyruvate dehydrogenase phosphatase deficiency.
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.
Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis.
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency.
Myxothiazol resistance in human mitochondria.
Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene.
Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.
Problems in the congenital lactic acidoses.
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.
Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant.
Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant: Correspondence.
Pyruvate dehydrogenase complex deficiency with multiple minor anomalies.
Pyruvate Dehydrogenase Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit.
Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy.
Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia.
Severe lactic acidosis due to thiamine deficiency in a patient with B-cell leukemia/lymphoma on total parenteral nutrition during high-dose methotrexate therapy.
Structural basis of the dysfunctioning of human 2-oxo acid dehydrogenase complexes.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency.
Thiamine-responsive congenital lactic acidosis: clinical and biochemical studies.
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
Adenocarcinoma
Overexpression of pyruvate dehydrogenase phosphatase 1 promotes the progression of pancreatic adenocarcinoma by regulating energy-related AMPK/mTOR signaling.
Agenesis of Corpus Callosum
Defects of pyruvate metabolism and the Krebs cycle.
Alzheimer Disease
(r)-, but not (s)-alpha lipoic acid stimulates deficient brain pyruvate dehydrogenase complex in vascular dementia, but not in Alzheimer dementia.
An immunochemical study of the pyruvate dehydrogenase deficit in Alzheimer's disease brain.
Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain.
Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity.
Amyotrophic Lateral Sclerosis
Enzymatic analysis of individual posterior root ganglion cells in olivopontocerebellar atrophy, amyotrophic lateral sclerosis and Duchenne muscular dystrophy.
Ataxia
An investigation of pyruvate metabolism in patients with cerebellar and spinocerebellar degeneration.
Evidence for a primary defect of lipoamide dehydrogenase in Friedreich's ataxia.
Ketonic diet in the management of pyruvate dehydrogenase deficiency.
Myxothiazol resistance in human mitochondria.
Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia.
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.
Atherosclerosis
Pyruvate Dehydrogenase Kinase 4 Promotes Vascular Calcification via SMAD1/5/8 Phosphorylation.
Autoimmune Diseases
Cryptic antigenic determinants on the extracellular pyruvate dehydrogenase complex/mimeotope found in primary biliary cirrhosis. A probe by affinity mass spectrometry.
HLA DRB4 0101-restricted immunodominant T cell autoepitope of pyruvate dehydrogenase complex in primary biliary cirrhosis: evidence of molecular mimicry in human autoimmune diseases.
TCR? repertoire of memory T cell reveals potential role for Escherichia coli in the pathogenesis of primary biliary cholangitis.
Barth Syndrome
Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.
Basal Ganglia Diseases
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Bile Duct Neoplasms
Molecular cloning, and characterization and expression of dihydrolipoamide acetyltransferase component of murine pyruvate dehydrogenase complex in bile duct cancer cells.
Blister
The Immunophysiology and Apoptosis of Biliary Epithelial Cells: Primary Biliary Cirrhosis and Primary Sclerosing Cholangitis.
Brain Diseases
Abnormalities of pyruvate dehydrogenase complex in brain disease.
Activities of thiamine-dependent enzymes in two experimental models of thiamine-deficiency encephalopathy: 1. The pyruvate dehydrogenase complex.
Characteristic changes on brain CT in a case of Leigh encephalopathy with deficiency of pyruvate dehydrogenase.
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Epileptic phenotypes in children with early-onset mitochondrial diseases.
Evidence for a primary defect of lipoamide dehydrogenase in Friedreich's ataxia.
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
[Case of methylmalonic acidemia presenting clinically Leigh encephalopathy]
Brain Injuries
Pyruvate dehydrogenase complex: metabolic link to ischemic brain injury and target of oxidative stress.
Brain Injuries, Traumatic
Neuroprotection by acetyl-L-carnitine after traumatic injury to the immature rat brain.
Pyruvate dehydrogenase phosphatase1 mRNA expression is divergently and dynamically regulated between rat cerebral cortex, hippocampus and thalamus after traumatic brain injury: A potential biomarker of TBI-induced hyper- and hypo-glycaemia and neuronal vulnerability.
Role of pyruvate dehydrogenase complex in traumatic brain injury and Measurement of pyruvate dehydrogenase enzyme by dipstick test.
Brain Ischemia
Combination therapy of normobaric oxygen with hypothermia or ethanol modulates pyruvate dehydrogenase complex in thromboembolic cerebral ischemia.
Reduced activity of the pyruvate dehydrogenase complex but not cytochrome c oxidase is associated with neuronal loss in the striatum following short-term forebrain ischemia.
Carcinogenesis
Importance of the Microbiota Inhibitory Mechanism on the Warburg Effect in Colorectal Cancer Cells.
Carcinoma
Pyruvate dehydrogenase complex activity controls metabolic and malignant phenotype in cancer cells.
Regulation of pyruvate dehydrogenase complex activity in Ehrlich ascites carcinoma cells by Ca2+ and pyruvate.
Transformation linked decrease of pyruvate dehydrogenase complex in human epidermis.
[Effect of Ca2+ ions on the activity of pyruvate dehydrogenase complex in ascites Ehrlich carcinoma cells]
Carcinoma, Ehrlich Tumor
Multiple effects of amobarbital on Ehrlich ascites tumor cells. Inhibition of pyruvate dehydrogenase.
Carcinoma, Hepatocellular
Evidence for a role of protein kinase C in the activation of the pyruvate dehydrogenase complex by insulin in Zajdela hepatoma cells.
Phosphorylation of the pyruvate dehydrogenase complex precedes HIF-1-mediated effects and pyruvate dehydrogenase kinase 1 upregulation during the first hours of hypoxic treatment in hepatocellular carcinoma cells.
The HGF-MET axis coordinates liver cancer metabolism and autophagy for chemotherapeutic resistance.
Carcinoma, Squamous Cell
Pyruvate dehydrogenase complex activity controls metabolic and malignant phenotype in cancer cells.
Carcinosarcoma
[Activity of the pyruvate dehydrogenase complex in Walker-256 carcinosarcoma]
Cardiomegaly
Glycolysis and pyruvate oxidation in cardiac hypertrophy--why so unbalanced?
Tissue-specific pyruvate dehydrogenase complex deficiency causes cardiac hypertrophy and sudden death of weaned male mice.
Cardiovascular Diseases
The role of Pyruvate Dehydrogenase Complex in cardiovascular diseases.
Charcot-Marie-Tooth Disease
Normal pyruvate oxidation in Friedreich ataxia and Charcot-Marie-Tooth disease fibroblasts.
Cholangitis
Alteration of energy metabolism in the pathogenesis of bile duct lesions in primary biliary cirrhosis.
An impaired biliary bicarbonate umbrella may be involved in dysregulated autophagy in primary biliary cholangitis.
Autoimmune cholangitis in the SJL/J mouse is antigen non-specific.
Bile Acids and Deregulated Cholangiocyte Autophagy in Primary Biliary Cholangitis.
Breakdown of tolerance to pyruvate dehydrogenase complex in experimental autoimmune cholangitis: a mouse model of primary biliary cirrhosis.
Identification of a xenobiotic as a potential environmental trigger in primary biliary cholangitis.
TCR? repertoire of memory T cell reveals potential role for Escherichia coli in the pathogenesis of primary biliary cholangitis.
The multi-hit hypothesis of primary biliary cirrhosis: polyinosinic-polycytidylic acid (poly I:C) and murine autoimmune cholangitis.
The role of natural killer (NK) and NK T cells in the loss of tolerance in murine primary biliary cirrhosis.
Cholangitis, Sclerosing
Biliary epithelial expression of pyruvate dehydrogenase complex in primary biliary cirrhosis: an immunohistochemical and immunoelectron microscopic study.
Cholestasis
Primary biliary cirrhosis.
Colonic Neoplasms
Butyrate elicits a metabolic switch in human colon cancer cells by targeting the pyruvate dehydrogenase complex.
Interactions between PPAR Gamma and the Canonical Wnt/Beta-Catenin Pathway in Type 2 Diabetes and Colon Cancer.
Resveratrol reverses the Warburg effect by targeting the pyruvate dehydrogenase complex in colon cancer cells.
Coma
Changes in pyruvate dehydrogenase complex activity during and following severe insulin-induced hypoglycemia.
Cytochrome-c Oxidase Deficiency
The expanding clinical spectrum of mitochondrial diseases.
Deafness
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Deficiency Diseases
[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency].
Dementia, Vascular
(r)-, but not (s)-alpha lipoic acid stimulates deficient brain pyruvate dehydrogenase complex in vascular dementia, but not in Alzheimer dementia.
Diabetes Mellitus
Downregulation of the skeletal muscle pyruvate dehydrogenase complex in the Otsuka Long-Evans Tokushima Fatty rat both before and after the onset of diabetes mellitus.
Diabetes Mellitus, Experimental
[The effect of a water-soluble vitamins on the activity of some enzymes in diabetes.]
Diabetes Mellitus, Type 2
alpha-Lipoic acid treatment decreases serum lactate and pyruvate concentrations and improves glucose effectiveness in lean and obese patients with type 2 diabetes.
Association of pyruvate dehydrogenase kinase 4 gene polymorphisms with type 2 diabetes and metabolic syndrome.
Inhibition of pyruvate dehydrogenase complex activity by 3-bromopyruvate affects blood platelets responses in type 2 diabetes.
Regulation of Muscle Pyruvate Dehydrogenase Complex in Insulin Resistance: Effects of Exercise and Dichloroacetate.
Diffuse Cerebral Sclerosis of Schilder
The mitochondrial epilepsies.
Drug Resistant Epilepsy
Prospective study of growth and bone mass in Swedish children treated with the modified Atkins diet.
Encephalomyelitis
Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE).
Epilepsy
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Epileptic phenotypes in children with early-onset mitochondrial diseases.
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
Pyruvate dehydrogenase deficiency and epilepsy.
The mitochondrial epilepsies.
Fatigue Syndrome, Chronic
Suggested pathology of systemic exertion intolerance disease: Impairment of the E3 subunit or crossover of swinging arms of the E2 subunit of the pyruvate dehydrogenase complex decreases regeneration of cofactor dihydrolipoic acid of the E2 subunit.
Friedreich Ataxia
Abnormalities of mitochondrial enzymes in hereditary ataxias.
An investigation of pyruvate metabolism in patients with cerebellar and spinocerebellar degeneration.
Friedreich's ataxia: I. Normal pyruvate dehydrogenase complex activity in platelets.
Low activities of the pyruvate and oxoglutarate dehydrogenase complexes in five patients with Friedreich's ataxia.
Normal pyruvate dehydrogenase complex activity in patients with Friedreich's ataxia.
Normal pyruvate oxidation in Friedreich ataxia and Charcot-Marie-Tooth disease fibroblasts.
Pyruvate dehydrogenase complex in Friedreich's ataxia.
Pyruvate-dehydrogenase complex in ataxic patients: enzyme deficiency in ataxic encephalopathy plus lactic acidosis and normal activity in Friedreich ataxia.
Gastroparesis
A technical surgery for refractory gastroparesis in a patient with a mitochondrial disorder.
Genetic Diseases, Inborn
Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.
Heart Arrest
Normoxic resuscitation after cardiac arrest protects against hippocampal oxidative stress, metabolic dysfunction, and neuronal death.
Heart Failure
Development of Dihydroxyphenyl Sulfonylisoindoline Derivatives as Liver-Targeting Pyruvate Dehydrogenase Kinase Inhibitors.
Hepatitis
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.
Huntington Disease
Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain.
Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity.
Hyperglycinemia, Nonketotic
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Hyperinsulinism
An acute increase in skeletal muscle carnitine content alters fuel metabolism in resting human skeletal muscle.
Longitudinal study of tissue- and subunit-specific obesity-induced regulation of the pyruvate dehydrogenase complex.
Hypertension
Increased mitochondrial activity in renal proximal tubule cells from young spontaneously hypertensive rats.
Hyperthyroidism
Effect of thyroid hormone on the turnover of rat liver pyruvate carboxylase and pyruvate dehydrogenase.
Evaluation of the role of peroxisome-proliferator-activated receptor alpha in the regulation of cardiac pyruvate dehydrogenase kinase 4 protein expression in response to starvation, high-fat feeding and hyperthyroidism.
Hepatic carbon flux after re-feeding. Hyperthyroidism blocks glycogen synthesis and the suppression of glucose output observed in response to carbohydrate re-feeding.
Regulation of renal and hepatic pyruvate dehydrogenase complex on carbohydrate re-feeding after starvation. Possible mechanisms and a regulatory role for thyroid hormone.
Hypoglycemia
Cardiac failure in C5-deficient A/J mice after Candida albicans infection.
Changes in pyruvate dehydrogenase complex activity during and following severe insulin-induced hypoglycemia.
Regulation of fasting fuel metabolism by Toll-like receptor 4.
Hypoventilation
Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency.
Infections
Energy Metabolism in the Placenta and the Role of Disturbances in the Development of Placental Insufficiency at an Exacerbation of Cytomegalovirus Infection.
Escherichia coli infection induces autoimmune cholangitis and anti-mitochondrial antibodies in non-obese diabetic (NOD).B6 (Idd10/Idd18) mice.
Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency.
iTRAQ-based proteomic profile analysis of ISKNV-infected CPB cells with emphasizing on glucose metabolism, apoptosis and autophagy pathways.
Insulin Resistance
alpha-Lipoic acid treatment decreases serum lactate and pyruvate concentrations and improves glucose effectiveness in lean and obese patients with type 2 diabetes.
Changes in glucose and lipid metabolism following weight loss produced by a very low calorie diet in obese subjects.
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.
Down-regulation of pyruvate dehydrogenase phosphatase in obese subjects is a defect that signals insulin resistance.
Effect of acute and short-term dietary fat ingestion on postprandial skeletal muscle protein synthesis rates in middle-aged, overweight, and obese men.
Fish oil affects pancreatic fat storage, pyruvate dehydrogenase complex activity and insulin secretion in rats fed a sucrose-rich diet.
Genetic activation of pyruvate dehydrogenase alters oxidative substrate selection to induce skeletal muscle insulin resistance.
In vivo insulin sensitivity of the pyruvate dehydrogenase complex in tissues of the rat.
Inhibition of pyruvate dehydrogenase kinase 2 protects against hepatic steatosis through modulation of TCA cycle anaplerosis and ketogenesis.
Liver-specific pyruvate dehydrogenase complex deficiency upregulates lipogenesis in adipose tissue and improves peripheral insulin sensitivity.
Medicinal properties of mangiferin, structural features, derivative synthesis, pharmacokinetics and biological activities.
Pyruvate dehydrogenase kinase isoenzyme 4 (PDHK4) deficiency attenuates the long-term negative effects of a high-saturated fat diet.
Pyruvate Dehydrogenase Phosphatase Regulatory Gene Expression Correlates with Exercise Training Insulin Sensitivity Changes.
Regulation of Muscle Pyruvate Dehydrogenase Complex in Insulin Resistance: Effects of Exercise and Dichloroacetate.
Skeletal muscle mitochondria exhibit decreased pyruvate oxidation capacity and increased ROS emission during surgery-induced acute insulin resistance.
The activity of the pyruvate dehydrogenase complex in heart and liver from mice during the development of obesity and insulin resistance.
The effect of body weight and the fatty acid-oxidation inhibitor 2-tetradecylglycidic acid on pyruvate dehydrogenase complex activity in mouse heart.
The pyruvate dehydrogenase complex: nutrient control and the pathogenesis of insulin resistance.
The Role of FOXO and PPAR Transcription Factors in Diet-Mediated Inhibition of PDC Activation and Carbohydrate Oxidation During Exercise in Humans and the Role of Pharmacological Activation of PDC in Overriding These Changes.
Intermittent Claudication
Walking performance, oxygen uptake kinetics and resting muscle pyruvate dehydrogenase complex activity in peripheral arterial disease.
Ischemic Attack, Transient
Preischemic hyperglycemia and postischemic alteration of rat brain pyruvate dehydrogenase activity.
Ischemic Stroke
Ethanol and normobaric oxygen: novel approach in modulating pyruvate dehydrogenase complex after severe transient and permanent ischemic stroke.
Kearns-Sayre Syndrome
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.
Leigh Disease
A guide to diagnosis and treatment of Leigh syndrome.
Abnormal activation of pyruvate dehydrogenase in Leigh disease fibroblasts.
Adult leigh syndrome: treatment with intravenous soybean oil for acute central respiratory failure.
Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.
Defective activation of the pyruvate dehydrogenase complex in subacute necrotizing encephalomyelopathy (Leigh disease).
Deficiency of pyruvate dehydrogenase complex (PDHC) in Leigh's disease fibroblasts: an abnormality in lipoamide dehydrogenase affecting PDHC activation.
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Mitochondrial DNA mutations in Leigh syndrome and their phylogenetic implications.
Pyruvate dehydrogenase activity is not deficient in the brain of three autopsied cases with Leigh disease (subacute necrotizing encephalomyelopathy, SNE).
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
Pyruvate dehydrogenase deficiency as a result of splice-site mutations in the PDX1 gene.
Pyruvate dehydrogenase phosphate (PDHb) phosphatase activity in fibroblasts from Leigh's disease.
The expanding clinical spectrum of mitochondrial diseases.
The mitochondrial epilepsies.
Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.
[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study]
[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]
Leukemia
Colostrum of Healthy Mothers Contains Broad Spectrum of Secretory IgA Autoantibodies.
Liver Cirrhosis, Biliary
A key role for autoreactive B cells in the breakdown of T-cell tolerance to pyruvate dehydrogenase complex in the mouse.
A lipoyl synthetic octadecapeptide of dihydrolipoamide acetyltransferase specifically recognized by anti-M2 autoantibodies in primary biliary cirrhosis.
Alteration of energy metabolism in the pathogenesis of bile duct lesions in primary biliary cirrhosis.
Amino acids critical for binding of autoantibody to an immunodominant conformational epitope of the pyruvate dehydrogenase complex subunit E2: identification by phage display and site-directed mutagenesis.
An automated microassay for enzyme inhibitory effects of M2 antibodies in primary biliary cirrhosis.
An impaired biliary bicarbonate umbrella may be involved in dysregulated autophagy in primary biliary cholangitis.
Analysis of peripheral blood mononuclear cell stimulated with pyruvate dehydrogenase complex, T-cell receptors from patients with primary biliary cirrhosis.
Anti-idiotypic antibodies to anti-PDC-E2 in primary biliary cirrhosis and normal subjects.
Antibodies to E1 and E2/Protein X components of pyruvate dehydrogenase complex in sera of patients with primary biliary cirrhosis.
Antibody to two forms of dihydrolipoamide acetyltransferase (PDC-E2) in primary biliary cirrhosis.
Antimitochondrial autoantibodies in primary biliary cirrhosis recognize cross-reactive epitope(s) on protein X and dihydrolipoamide acetyltransferase of pyruvate dehydrogenase complex.
Antimitochondrial autoantibodies in saliva and sera from patients with primary biliary cirrhosis.
Apoptosis as a mechanism for cell surface expression of the autoantigen pyruvate dehydrogenase complex.
Apotopes and innate immune system: Novel players in the primary biliary cirrhosis scenario.
Apotopes and the biliary specificity of primary biliary cirrhosis.
Autoantibodies to M2 mitochondrial autoantigens in normal human sera by immunofluorescence and novel assays.
Autoantibodies to pyruvate dehydrogenase complex in patients with systemic sclerosis. Possible role of anti-E1 alpha antibody as a serologic indicator for development of primary biliary cirrhosis.
Autoepitope mapping and reactivity of autoantibodies to the dihydrolipoamide dehydrogenase-binding protein (E3BP) and the glycine cleavage proteins in primary biliary cirrhosis.
Automated enzymatic mitochondrial antibody assay for the diagnosis of primary biliary cirrhosis.
Autoreactive liver-infiltrating T cells in primary biliary cirrhosis recognize inner mitochondrial epitopes and the pyruvate dehydrogenase complex.
Autoreactive responses to pyruvate dehydrogenase complex in the pathogenesis of primary biliary cirrhosis.
Bile Acids and Deregulated Cholangiocyte Autophagy in Primary Biliary Cholangitis.
Biliary apotopes and anti-mitochondrial antibodies activate innate immune responses in primary biliary cirrhosis.
Biliary epithelial expression of pyruvate dehydrogenase complex in primary biliary cirrhosis: an immunohistochemical and immunoelectron microscopic study.
Breakdown of tolerance to pyruvate dehydrogenase complex in experimental autoimmune cholangitis: a mouse model of primary biliary cirrhosis.
Catalytic domain of PDC-E2 contains epitopes recognized by antimitochondrial antibodies in primary biliary cirrhosis.
Characterisation of the reactivity of autoantibodies in primary biliary cirrhosis.
Characterization of the autoantibody responses to recombinant E3 binding protein (protein X) of pyruvate dehydrogenase in primary biliary cirrhosis.
Chromosome localization and RFLP analysis of PDC-E2: the major autoantigen of primary biliary cirrhosis.
Clarification of the identity of the major M2 autoantigen in primary biliary cirrhosis.
Covalent modification as a mechanism for the breakdown of immune tolerance to pyruvate dehydrogenase complex in the mouse.
Cryptic antigenic determinants on the extracellular pyruvate dehydrogenase complex/mimeotope found in primary biliary cirrhosis. A probe by affinity mass spectrometry.
Differential epitope mapping of antibodies to PDC-E2 in patients with hematologic malignancies after allogeneic hematopoietic stem cell transplantation and primary biliary cirrhosis.
Distribution of dihydrolipoamide acetyltransferase (E2) in the liver and portal lymph nodes of patients with primary biliary cirrhosis: an immunohistochemical study.
Electrophile-modified lipoic derivatives of PDC-E2 elicits anti-mitochondrial antibody reactivity.
Elevations in IFN-gamma, IL-5, and IL-10 in patients with the autoimmune disease primary biliary cirrhosis: association with autoantibodies and soluble CD30.
Enzyme inhibition assay for pyruvate dehydrogenase complex: clinical utility for the diagnosis of primary biliary cirrhosis.
Enzyme inhibitory autoantibodies to pyruvate dehydrogenase complex in primary biliary cirrhosis differ for mammalian, yeast and bacterial enzymes: implications for molecular mimicry.
Enzyme inhibitory autoantibodies to pyruvate dehydrogenase complex in primary biliary cirrhosis: applications of a semiautomated assay.
Epitope mapping and reactivity of autoantibodies to the E2 component of 2-oxoglutarate dehydrogenase complex in primary biliary cirrhosis using recombinant 2-oxoglutarate dehydrogenase complex.
Epitope mapping on E1alpha subunit of pyruvate dehydrogenase complex with autoantibodies of patients with primary biliary cirrhosis.
Escherichia coli infection induces autoimmune cholangitis and anti-mitochondrial antibodies in non-obese diabetic (NOD).B6 (Idd10/Idd18) mice.
Extensive homology between the major immunodominant mitochondrial antigen in primary biliary cirrhosis and Helicobacter pylori does not lead to immunological cross-reactivity.
Frequency of IgG and IgM autoantibodies to four specific M2 mitochondrial autoantigens in primary biliary cirrhosis.
Granulomatous cholangitis in chronic hepatitis C: a new diagnostic problem in liver pathology.
Hepatic distribution of E2 component of pyruvate dehydrogenase complex after transplantation.
Heterogeneity of autoreactive T cell clones specific for the E2 component of the pyruvate dehydrogenase complex in primary biliary cirrhosis.
HLA DRB4 0101-restricted immunodominant T cell autoepitope of pyruvate dehydrogenase complex in primary biliary cirrhosis: evidence of molecular mimicry in human autoimmune diseases.
Human monoclonal antibodies from a patient with primary biliary cirrhosis that recognize two distinct autoepitopes in the E2 component of the pyruvate dehydrogenase complex.
Human pyruvate dehydrogenase complex as an autoantigen in primary biliary cirrhosis.
Identification and characterization of antimitochondrial autoantibodies in sera of patients with monoclonal gammopathies.
Identification and precursor frequency analysis of a common T cell epitope motif in mitochondrial autoantigens in primary biliary cirrhosis.
Identification of a xenobiotic as a potential environmental trigger in primary biliary cholangitis.
Immunization with a xenobiotic 6-bromohexanoate bovine serum albumin conjugate induces antimitochondrial antibodies.
Immunogenetic analysis of a panel of monoclonal IgG and IgM anti-PDC-E2/X antibodies derived from patients with primary biliary cirrhosis.
Immunogenetic analysis reveals that epitope shifting occurs during B-cell affinity maturation in primary biliary cirrhosis.
In situ nucleic acid detection of PDC-E2, BCOADC-E2, OGDC-E2, PDC-E1alpha, BCOADC-E1alpha, OGDC-E1, and the E3 binding protein (protein X) in primary biliary cirrhosis.
Infection and primary biliary cirrhosis.
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.
Inhibitory autoantibody to a conformational epitope of the pyruvate dehydrogenase complex, the major autoantigen in primary biliary cirrhosis.
Innate immunity and primary biliary cirrhosis: Activated invariant natural killer T cells exacerbate murine autoimmune cholangitis and fibrosis.
Investigation of a mechanism for accelerated breakdown of immune tolerance to the primary biliary cirrhosis-associated autoantigen, pyruvate dehydrogenase complex.
Lipoylated and unlipoylated domains of human PDC-E2 as autoantigens in primary biliary cirrhosis: significance of lipoate attachment.
Liver autoimmunity triggered by microbial activation of natural killer T cells.
Membrane dihydrolipoamide acetyltransferase (E2) on human biliary epithelial cells in primary biliary cirrhosis.
Mitochondrial pyruvate dehydrogenase complex subunits as autoantigens in human primary biliary cirrhosis.
Molecular cloning, and characterization and expression of dihydrolipoamide acetyltransferase component of murine pyruvate dehydrogenase complex in bile duct cancer cells.
Mouse Mammary Tumor Virus in Anti-Mitochondrial Antibody Producing Mouse Models.
Mycoplasma antigens as a possible trigger for the induction of antimitochondrial antibodies in primary biliary cirrhosis.
Natural and disease associated autoantibodies to the autoantigen, dihydrolipoamide acetyltransferase, recognise different epitopes.
New ELISA for detecting primary biliary cirrhosis-specific antimitochondrial antibodies.
Nucleotide sequence analysis of natural and combinatorial anti-PDC-E2 antibodies in patients with primary biliary cirrhosis. Recapitulating immune selection with molecular biology.
Nucleotide sequence of a cDNA encoding the lipoate acetyl transferase (E2) of human heart pyruvate dehydrogenase complex differs from that of human placenta.
Ongoing activation of autoantigen-specific B cells in primary biliary cirrhosis.
Oral tolerisation to pyruvate dehydrogenase complex as a potential therapy for primary biliary cirrhosis.
PDC-E3BP is not a dominant T-cell autoantigen in primary biliary cirrhosis.
Peripheral blood T-cell responses to pyruvate dehydrogenase complex in primary biliary cirrhosis: role of antigen-presenting dendritic cells.
Pilot study of peripheral muscle function in primary biliary cirrhosis: potential implications for fatigue pathogenesis.
Prediction of the immunodominant epitope of the pyruvate dehydrogenase complex E2 in primary biliary cirrhosis using phage display.
Primary biliary cirrhosis following lactobacillus vaccination for recurrent vaginitis.
Primary biliary cirrhosis is characterized by IgG3 antibodies cross-reactive with the major mitochondrial autoepitope and its Lactobacillus mimic.
Primary biliary cirrhosis. Inhibition of pyruvate dehydrogenase complex activity by autoantibodies specific for E1 alpha, a non-lipoic acid containing mitochondrial enzyme.
Random phage mimotopes recognized by monoclonal antibodies against the pyruvate dehydrogenase complex-E2 (PDC-E2).
Role of Lipoylation of the Immunodominant Epitope of Pyruvate Dehydrogenase Complex: Toward a Peptide-Based Diagnostic Assay for Primary Biliary Cirrhosis.
Sera from patients with tuberculosis recognize the M2a-epitope (E2-subunit of pyruvate dehydrogenase) specific for primary biliary cirrhosis.
Serial changes in enzyme inhibitory antibody to pyruvate dehydrogenase complex during the course of primary biliary cirrhosis.
Sidechain biology and the immunogenicity of PDC-E2, the major autoantigen of primary biliary cirrhosis.
Specific reactivity of recombinant human PDC-E1 alpha in primary biliary cirrhosis.
Subcellular localization of pyruvate dehydrogenase dihydrolipoamide acetyltransferase in human intrahepatic biliary epithelial cells.
T cell responses to natural human proteins in primary biliary cirrhosis.
T-cell autoimmunity in primary biliary cirrhosis.
T-cell responses to the components of pyruvate dehydrogenase complex in primary biliary cirrhosis.
TCR? repertoire of memory T cell reveals potential role for Escherichia coli in the pathogenesis of primary biliary cholangitis.
The E1 alpha and beta subunits of the pyruvate dehydrogenase complex are M2'd' and M2'e' autoantigens in primary biliary cirrhosis.
The human pyruvate dehydrogenase complex: a polymorphic region of the lipoate acetyl transferase (E2) subunit gene.
The pyruvate dehydrogenase complex as a target autoantigen in primary biliary cirrhosis.
Towards the pathogenesis of autoimmune liver disease.
Transgenic mice aberrantly expressing pyruvate dehydrogenase complex E2 component on biliary epithelial cells do not show primary biliary cirrhosis.
Use of designer recombinant mitochondrial antigens in the diagnosis of primary biliary cirrhosis.
Xenobiotic incorporation into pyruvate dehydrogenase complex can occur via the exogenous lipoylation pathway.
Xenobiotic-induced loss of tolerance in rabbits to the mitochondrial autoantigen of primary biliary cirrhosis is reversible.
Xenobiotics and autoimmunity: does acetaminophen cause primary biliary cirrhosis?
[Infiltrating T-cells in primary biliary cirrhosis recognize mitochondrial epitopes]
[Prediction and identification of autoepitopes of PDC-E2 specific CD8+ CTL in primary biliary cirrhosis patients]
[Primary biliary cirrhosis--specific anti-mitochondrial antibodies]
Liver Diseases
A key role for autoreactive B cells in the breakdown of T-cell tolerance to pyruvate dehydrogenase complex in the mouse.
Amino acids critical for binding of autoantibody to an immunodominant conformational epitope of the pyruvate dehydrogenase complex subunit E2: identification by phage display and site-directed mutagenesis.
Antimitochondrial autoantibodies in saliva and sera from patients with primary biliary cirrhosis.
Apoptosis as a mechanism for cell surface expression of the autoantigen pyruvate dehydrogenase complex.
Autoepitope mapping and reactivity of autoantibodies to the dihydrolipoamide dehydrogenase-binding protein (E3BP) and the glycine cleavage proteins in primary biliary cirrhosis.
Breakdown of tolerance to pyruvate dehydrogenase complex in experimental autoimmune cholangitis: a mouse model of primary biliary cirrhosis.
Covalent modification as a mechanism for the breakdown of immune tolerance to pyruvate dehydrogenase complex in the mouse.
Differential epitope mapping of antibodies to PDC-E2 in patients with hematologic malignancies after allogeneic hematopoietic stem cell transplantation and primary biliary cirrhosis.
Distribution of dihydrolipoamide acetyltransferase (E2) in the liver and portal lymph nodes of patients with primary biliary cirrhosis: an immunohistochemical study.
Elevations in IFN-gamma, IL-5, and IL-10 in patients with the autoimmune disease primary biliary cirrhosis: association with autoantibodies and soluble CD30.
Identification of a xenobiotic as a potential environmental trigger in primary biliary cholangitis.
Immunogenetic analysis reveals that epitope shifting occurs during B-cell affinity maturation in primary biliary cirrhosis.
Infection and primary biliary cirrhosis.
Infectious agents in the pathogenesis of primary biliary cirrhosis.
Investigation of a mechanism for accelerated breakdown of immune tolerance to the primary biliary cirrhosis-associated autoantigen, pyruvate dehydrogenase complex.
Prediction of the immunodominant epitope of the pyruvate dehydrogenase complex E2 in primary biliary cirrhosis using phage display.
Role of Lipoylation of the Immunodominant Epitope of Pyruvate Dehydrogenase Complex: Toward a Peptide-Based Diagnostic Assay for Primary Biliary Cirrhosis.
Secretory autoantibodies in primary biliary cirrhosis (PBC).
T cell responses to natural human proteins in primary biliary cirrhosis.
The E1 alpha and beta subunits of the pyruvate dehydrogenase complex are M2'd' and M2'e' autoantigens in primary biliary cirrhosis.
Liver Failure, Acute
Pyruvate dehydrogenase complex and lactate dehydrogenase as targets for therapy of acute liver failure.
Lung Neoplasms
On-target inhibition of tumor fermentative glycolysis as visualized by hyperpolarized pyruvate.
Malaria
The malaria parasite Plasmodium falciparum has only one pyruvate dehydrogenase complex, which is located in the apicoplast.
MELAS Syndrome
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.
Menkes Kinky Hair Syndrome
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism.
Metabolic Syndrome
Regulation of Muscle Pyruvate Dehydrogenase Complex in Insulin Resistance: Effects of Exercise and Dichloroacetate.
The role of pyruvate dehydrogenase kinase in diabetes and obesity.
Metabolism, Inborn Errors
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.
methylenetetrahydrofolate dehydrogenase (nad+) deficiency
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mitochondrial Diseases
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.
Clinical manifestation of mitochondrial diseases.
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Epileptic phenotypes in children with early-onset mitochondrial diseases.
Mitochondrial Glutathione Transferase Zeta 1 is Inactivated More Rapidly by Dichloroacetate than the Cytosolic Enzyme in Adult and Juvenile Rat Liver.
Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
The mitochondrial epilepsies.
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
[Assay of biochemical activity (respiratory complex activity, pyruvate dehydrogenase complex activity etc)for diagnosis of mitochondrial diseases]
[Mitochondrial leukoencephalopathy of infancy: is it an early expression of Leigh syndrome?]
[Severe anorexia in infants in Reunion: a new autosomal recessive disease?]
Mitochondrial Myopathies
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies.
Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complex.
[A histological study of mitochondrial myopathy in partial deficiency of pyruvate dehydrogenase complex]
Muscle Hypotonia
Enzymologic studies and therapy of Leigh's disease associated with pyruvate decarboxylase deficiency.
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
Muscle Spasticity
An investigation of pyruvate metabolism in patients with cerebellar and spinocerebellar degeneration.
Muscle Weakness
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.
Muscular Diseases
Combined deficiencies of the pyruvate dehydrogenase complex and enzymes of the respiratory chain in mitochondrial myopathies.
Pharmacological activation of the pyruvate dehydrogenase complex reduces statin-mediated upregulation of FOXO gene targets and protects against statin myopathy in rodents.
Muscular Dystrophy, Duchenne
Enzymatic analysis of individual posterior root ganglion cells in olivopontocerebellar atrophy, amyotrophic lateral sclerosis and Duchenne muscular dystrophy.
Mycoplasma Infections
Effect of mycoplasma infection on pyruvate dehydrogenase complex activity of normal and pyruvate dehydrogenase complex-deficient fibroblasts.
Myocardial Ischemia
Regulation of pyruvate dehydrogenase complex activity during myocardial ischemia.
nadh:ubiquinone reductase (h+-translocating) deficiency
The expanding clinical spectrum of mitochondrial diseases.
Neoplasm Metastasis
Phosphorylation of PDHA by AMPK Drives TCA Cycle to Promote Cancer Metastasis.
Neoplasms
AAV3-mediated transfer and expression of the pyruvate dehydrogenase E1 alpha subunit gene causes metabolic remodeling and apoptosis of human liver cancer cells.
Altered glycolysis results in drug-resistant in clinical tumor therapy.
Compartmentalized activities of the pyruvate dehydrogenase complex sustain lipogenesis in prostate cancer.
Development of Dihydroxyphenyl Sulfonylisoindoline Derivatives as Liver-Targeting Pyruvate Dehydrogenase Kinase Inhibitors.
Diagnosis of bladder cancer and prediction of survival by urinary metabolomics.
Dichloroacetate induces apoptosis and cell-cycle arrest in colorectal cancer cells.
DLAT subunit of the pyruvate dehydrogenase complex is upregulated in gastric cancer-implications in cancer therapy.
Effects of recombinant monokines on hepatic pyruvate dehydrogenase, pyruvate dehydrogenase kinase, lipogenesis de novo and plasma triacylglycerols. Abolition by prior fasting.
HIF-1alpha Modulates Energy Metabolism in Cancer Cells by Inducing Over-expression of Specific Glycolytic Isoforms.
HIF-1alpha modulates energy metabolism in cancer cells by inducing over-expression of specific glycolytic isoforms.
Imatinib resistance associated with BCR-ABL upregulation is dependent on HIF-1alpha-induced metabolic reprograming.
In vitro cytotoxicity screening to identify novel anti-osteosarcoma therapeutics targeting pyruvate dehydrogenase kinase 2.
Isolated tumoral pyruvate dehydrogenase can synthesize acetoin which inhibits pyruvate oxidation as well as other aldehydes.
Mitochondrial Glutathione Transferase Zeta 1 is Inactivated More Rapidly by Dichloroacetate than the Cytosolic Enzyme in Adult and Juvenile Rat Liver.
Molecular cloning, and characterization and expression of dihydrolipoamide acetyltransferase component of murine pyruvate dehydrogenase complex in bile duct cancer cells.
Mouse Mammary Tumor Virus in Anti-Mitochondrial Antibody Producing Mouse Models.
Multiple effects of amobarbital on Ehrlich ascites tumor cells. Inhibition of pyruvate dehydrogenase.
Overexpression of PDK2 and PDK3 reflects poor prognosis in acute myeloid leukemia.
Phosphorylation of PDHA by AMPK Drives TCA Cycle to Promote Cancer Metastasis.
Pyruvate dehydrogenase complex activity controls metabolic and malignant phenotype in cancer cells.
Pyruvate dehydrogenase complex of ascites tumour. Activation by AMP and other properties of potential significance in metabolic regulation.
Pyruvate dehydrogenase kinase 4 exhibits a novel role in the activation of mutant KRAS, regulating cell growth in lung and colorectal tumour cells.
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.
Specific inhibition by synthetic analogs of pyruvate reveals that the pyruvate dehydrogenase reaction is essential for metabolism and viability of glioblastoma cells.
The biological significance of cancer: mitochondria as a cause of cancer and the inhibition of glycolysis with citrate as a cancer treatment.
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 pyruvate dehydrogenase complex in cancer: An old metabolic gatekeeper regulated by new pathways and pharmacological agents.
Tyr-94 phosphorylation inhibits pyruvate dehydrogenase phosphatase 1 and promotes tumor growth.
[Activity of the pyruvate dehydrogenase complex in Walker-256 carcinosarcoma]
Neurodegenerative Diseases
Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity.
Pyruvate Dehydrogenase Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit.
Pyruvate dehydrogenase deficiency disease detected by the enzyme activity of peripheral leukocytes.
Neurologic Manifestations
Pyruvate Dehydrogenase-E1? Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation.
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Obesity
Development of Dihydroxyphenyl Sulfonylisoindoline Derivatives as Liver-Targeting Pyruvate Dehydrogenase Kinase Inhibitors.
Longitudinal study of tissue- and subunit-specific obesity-induced regulation of the pyruvate dehydrogenase complex.
Medicinal properties of mangiferin, structural features, derivative synthesis, pharmacokinetics and biological activities.
Proportion of active dephosphorylated pyruvate dehydrogenase complex in heart and isolated heart mitochondria is decreased in obese hyperinsulinaemic mice.
Skeletal muscle type comparison of pyruvate dehydrogenase phosphatase activity and isoform expression: effects of obesity and endurance training.
The activity of the pyruvate dehydrogenase complex in heart and liver from mice during the development of obesity and insulin resistance.
The activity of the pyruvate dehydrogenase complex in heart muscle in the previously obese mouse model.
The effect of body weight and the fatty acid-oxidation inhibitor 2-tetradecylglycidic acid on pyruvate dehydrogenase complex activity in mouse heart.
Tissue differences in the response of the pyruvate dehydrogenase complex to a glucose load during the development of obesity in gold-thioglucose-obese mice.
Olivopontocerebellar Atrophies
Abnormalities of mitochondrial enzymes in hereditary ataxias.
Enzymatic analysis of individual posterior root ganglion cells in olivopontocerebellar atrophy, amyotrophic lateral sclerosis and Duchenne muscular dystrophy.
Ophthalmoplegia
Ketonic diet in the management of pyruvate dehydrogenase deficiency.
Paralysis
Acute flaccid paralysis as initial symptom in 4 patients with novel e1alpha mutations of the pyruvate dehydrogenase complex.
Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.
Parkinson Disease
Mice deficient in dihydrolipoamide dehydrogenase show increased vulnerability to MPTP, malonate and 3-nitropropionic acid neurotoxicity.
Peripheral Arterial Disease
Walking performance, oxygen uptake kinetics and resting muscle pyruvate dehydrogenase complex activity in peripheral arterial disease.
Peripheral Nervous System Diseases
Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting.
Peripheral Vascular Diseases
Metabolic inertia in contracting skeletal muscle: a novel approach for pharmacological intervention in peripheral vascular disease.
Placental Insufficiency
Energy Metabolism in the Placenta and the Role of Disturbances in the Development of Placental Insufficiency at an Exacerbation of Cytomegalovirus Infection.
Prostatic Neoplasms
Compartmentalized activities of the pyruvate dehydrogenase complex sustain lipogenesis in prostate cancer.
Publisher Correction: Compartmentalized activities of the pyruvate dehydrogenase complex sustain lipogenesis in prostate cancer.
Re: Compartmentalized Activities of the Pyruvate Dehydrogenase Complex Sustain Lipogenesis in Prostate Cancer.
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
Ketogenic diet for treatment of epilepsy.
pyruvate decarboxylase deficiency
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
pyruvate dehydrogenase (acetyl-transferring) deficiency
Pyruvate dehydrogenase deficiency and epilepsy.
pyruvate dehydrogenase (nadp+) deficiency
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
Defects of pyruvate metabolism and the Krebs cycle.
Pyruvate dehydrogenase E3 binding protein deficiency.
Pyruvate Dehydrogenase Complex Deficiency Disease
A 1.1 million base pair X-chromosomal deletion covering the PDHA1 and CDKL5 genes in a female patient with west syndrome and pyruvate oxidation deficiency.
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.
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 Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
A technical surgery for refractory gastroparesis in a patient with a mitochondrial disorder.
Anesthesia management for ENT surgery in a child with X-linked pyruvate kinase deficiency.
Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency.
Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemia.
Brain MR imaging and proton MR spectroscopy in female mice with pyruvate dehydrogenase complex deficiency.
Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency.
Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency.
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.
Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy.
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.
Corrigendum: Reprogramming of aerobic glycolysis in non-transformed mouse liver with pyruvate dehydrogenase complex deficiency.
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family.
Defects of pyruvate metabolism and the Krebs cycle.
Demyelination and disturbed metabolism of pyruvate: a case report.
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
Development of a novel observer reported outcome tool as the primary efficacy outcome measure for a rare disease randomized controlled trial.
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Differential effect of DCA treatment on the pyruvate dehydrogenase complex in patients with severe PDHC deficiency.
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Effect of pyruvate dehydrogenase complex deficiency on L-lysine production with Corynebacterium glutamicum.
Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency.
Energy substrate metabolism in pyruvate dehydrogenase complex deficiency.
Epileptic phenotypes in children with early-onset mitochondrial diseases.
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency.
Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency.
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Introduction of a ketogenic diet in young infants.
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Ketogenic diet for treatment of epilepsy.
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Liver-specific pyruvate dehydrogenase complex deficiency upregulates lipogenesis in adipose tissue and improves peripheral insulin sensitivity.
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate.
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1? Subunit Gene (PDHA1).
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity.
Mutational study in the PDHA1 gene of 40 patients suspected 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.
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.
Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting.
Novel mutation (R263X) of the E1? subunit in pyruvate dehydrogenase complex deficiency.
Personalized Dosing of Dichloroacetate Using GSTZ1 Clinical Genotyping Assay.
Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.
Prenatal presentation of pyruvate dehydrogenase complex deficiency.
Prospective study of growth and bone mass in Swedish children treated with the modified Atkins diet.
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.
Pyruvate dehydrogenase complex deficiency and absence of subunit X.
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant.
Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant: Correspondence.
Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
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 Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit.
Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts.
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pyruvate dehydrogenase deficiency and epilepsy.
Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
Pyruvate dehydrogenase E3 binding protein deficiency.
Pyruvate Dehydrogenase-E1? Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation.
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.
Reprogramming of aerobic glycolysis in non-transformed mouse liver with pyruvate dehydrogenase complex deficiency.
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected.
Structural and functional impact of clinically relevant E1? variants causing pyruvate dehydrogenase complex deficiency.
The changing face of dietary therapy for epilepsy.
The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.
The expanding clinical spectrum of mitochondrial diseases.
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy.
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency.
Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.
Tissue-specific pyruvate dehydrogenase complex deficiency causes cardiac hypertrophy and sudden death of weaned male mice.
[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency].
[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].
[Diagnosis of pyruvate dehydrogenase complex deficiency in biopsied muscles and cultured skin fibroblasts]
[Evaluation of a rapid diagnosis of congenital lactic acidemia by transported peripheral blood samples]
[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency].
[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]
[Magnetic resonance imaging in thiamine responsive pyruvate dehydrogenase complex deficiency]
[Pyruvate dehydrogenase complex deficiency]
Reperfusion Injury
Pyruvate dehydrogenase complex in cerebral ischemia-reperfusion injury.
Sarcoidosis
Antimitochondrial antibodies in kindreds of patients with primary biliary cirrhosis: antimitochondrial antibodies are unique to clinical disease and are absent in asymptomatic family members.
Scleroderma, Localized
Autoantibodies to mitochondrial 2-oxo-acid dehydrogenase complexes in localized scleroderma.
Scleroderma, Systemic
Autoantibodies to pyruvate dehydrogenase complex in patients with systemic sclerosis. Possible role of anti-E1 alpha antibody as a serologic indicator for development of primary biliary cirrhosis.
Seizures
Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency.
Ketogenic diet for treatment of epilepsy.
Sepsis
Amrinone prevents the inhibition of muscle pyruvate dehydrogenase complex activity during sepsis.
Effect of sepsis on activity of pyruvate dehydrogenase complex in skeletal muscle and liver.
Increased pyruvate dehydrogenase kinase activity in response to sepsis.
Potentiation of decreased pyruvate dehydrogenase activity by inflammatory stimuli in sepsis.
Pyruvate dehydrogenase complex stimulation promotes immunometabolic homeostasis and sepsis survival.
Role of anaerobic bacteria in intra-abdominal septic abscesses in mediating septic control of skeletal muscle glucose oxidation and lactic acidemia.
TNF binding protein prevents hyperlactatemia and inactivation of PDH complex in skeletal muscle during sepsis.
[Research of progress of pyruvate dehydrogenase complex in sepsis metabolism].
Shock, Septic
Lipopolysaccharide (LPS)-induced septic shock causes profound changes in myocardial energy metabolites in pigs.
Spasms, Infantile
Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.
Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency.
Spinocerebellar Ataxias
Problems in the congenital lactic acidoses.
Spinocerebellar Degenerations
An investigation of pyruvate metabolism in patients with cerebellar and spinocerebellar degeneration.
Squamous Cell Carcinoma of Head and Neck
Pyruvate dehydrogenase complex activity controls metabolic and malignant phenotype in cancer cells.
Starvation
13C-NMR analysis of Aspergillus mutants disturbed in pyruvate metabolism.
Changes in rates of glucose utilization and regulation of glucose disposal by fast-twitch skeletal muscles in late pregnancy.
Conversion of inactive (phosphorylated) pyruvate dehydrogenase complex into active complex by the phosphatase reaction in heart mitochondria is inhibited by alloxan-diabetes or starvation in the rat.
Conversion of inactive (phosphorylated) pyruvate dehydrogenase complex into active complex by the phosphate reaction in heart mitochondria is inhibited by alloxan-diabetes or starvation in the rat.
Dysregulated pyruvate dehydrogenase complex in Zucker diabetic fatty rats.
Effect of starvation and insulin in vivo on the activity of the pyruvate dehydrogenase complex in rat skeletal muscles.
Effects of administration of tri-iodothyronine on the response of cardiac and renal pyruvate dehydrogenase complex to starvation for 48 h.
Energy metabolism during exercise in normal subjects undergoing total starvation.
Evaluation of the role of peroxisome-proliferator-activated receptor alpha in the regulation of cardiac pyruvate dehydrogenase kinase 4 protein expression in response to starvation, high-fat feeding and hyperthyroidism.
Functional Consequences of PDK4 Deficiency in Doberman Pinscher Fibroblasts.
Mechanism responsible for inactivation of skeletal muscle pyruvate dehydrogenase complex in starvation and diabetes.
Mitochondrial 2-oxoacid dehydrogenase complexes of animal tissues.
Protein kinase B-alpha inhibits human pyruvate dehydrogenase kinase-4 gene induction by dexamethasone through inactivation of FOXO transcription factors.
Reduction of mitochondrial pyruvate dehydrogenase phosphatase activity in lactating rat mammary gland following starvation or insulin deprivation.
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 renal and hepatic pyruvate dehydrogenase complex on carbohydrate re-feeding after starvation. Possible mechanisms and a regulatory role for thyroid hormone.
Reversible phosphorylation of pyruvate dehydrogenase in rat skeletal-muscle mitochondria. Effects of starvation and diabetes.
Role of Escherichia coli RpoS, LexA and H-NS global regulators in metabolism and survival under aerobic, phosphate-starvation conditions.
Starvation and diabetes reduce the amount of pyruvate dehydrogenase phosphatase in rat heart and kidney.
Starvation increases the amount of pyruvate dehydrogenase kinase in several mammalian tissues.
Starvation of lactating rats leads to alterations in the behaviour of pyruvate dehydrogenase kinase which persist in the semi-purified pyruvate dehydrogenase complex of the mammary gland but are partly reversible in vitro.
Starvation reduces pyruvate dehydrogenase phosphate phosphatase activity in rat kidney.
The roles of intrinsic kinase and of kinase/activator protein in the enhanced phosphorylation of pyruvate dehydrogenase complex in starvation.
Stomach Neoplasms
DLAT subunit of the pyruvate dehydrogenase complex is upregulated in gastric cancer-implications in cancer therapy.
succinate-semialdehyde dehydrogenase [nad(p)+] deficiency
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Thiamine Deficiency
Kinetic studies of mouse brain transketolase.
MR spectroscopy in pediatric Wernicke encephalopathy.
Urinary Tract Infections
Escherichia coli infection induces autoimmune cholangitis and anti-mitochondrial antibodies in non-obese diabetic (NOD).B6 (Idd10/Idd18) mice.
Usher Syndromes
Cannabinoid Receptor 1 associates to different molecular complexes during GABAergic neuron maturation.
Vascular Calcification
Pyruvate Dehydrogenase Kinase 4 Promotes Vascular Calcification via SMAD1/5/8 Phosphorylation.
[pyruvate dehydrogenase (acetyl-transferring)]-phosphatase deficiency
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children.
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 Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene.
A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.
A technical surgery for refractory gastroparesis in a patient with a mitochondrial disorder.
Anesthesia management for ENT surgery in a child with X-linked pyruvate kinase deficiency.
Beneficial effect of feeding a ketogenic diet to mothers on brain development in their progeny with a murine model of pyruvate dehydrogenase complex deficiency.
Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemia.
Brain MR imaging and proton MR spectroscopy in female mice with pyruvate dehydrogenase complex deficiency.
Caveats when considering ketogenic diets for the treatment of pyruvate dehydrogenase complex deficiency.
Central hypoventilation syndrome in pyruvate dehydrogenase complex deficiency.
Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy.
Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells.
Concomitant administration of sodium dichloroacetate and thiamine in west syndrome caused by thiamine-responsive pyruvate dehydrogenase complex deficiency.
Corrigendum: Reprogramming of aerobic glycolysis in non-transformed mouse liver with pyruvate dehydrogenase complex deficiency.
Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family.
Demyelination and disturbed metabolism of pyruvate: a case report.
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
Development of a novel observer reported outcome tool as the primary efficacy outcome measure for a rare disease randomized controlled trial.
Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency.
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
Effect of pyruvate dehydrogenase complex deficiency on L-lysine production with Corynebacterium glutamicum.
Efficacy of ketogenic diet for pyruvate dehydrogenase complex deficiency.
Energy substrate metabolism in pyruvate dehydrogenase complex deficiency.
Epileptic phenotypes in children with early-onset mitochondrial diseases.
Fatal lactic acidosis due to deficiency of E1 component of the pyruvate dehydrogenase complex.
First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex.
Gender-specific occurrence of West syndrome in patients with pyruvate dehydrogenase complex deficiency.
Gene expression analysis in mitochondria from chagasic mice: alterations in specific metabolic pathways.
Hypothermic reaction after infection in an infant with pyruvate dehydrogenase complex deficiency.
Identification of a canine model of pyruvate dehydrogenase phosphatase 1 deficiency.
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Introduction of a ketogenic diet in young infants.
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
Ketogenic diet for treatment of epilepsy.
Ketogenic diet in pyruvate dehydrogenase complex deficiency: short- and long-term outcomes.
Lactic acidosis due to a defect in the pyruvate dehydrogenase complex: a possible brain pyruvate dehydrogenase phosphatase deficiency.
Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
Liver-specific pyruvate dehydrogenase complex deficiency upregulates lipogenesis in adipose tissue and improves peripheral insulin sensitivity.
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Magnetic resonance spectroscopic investigation of mitochondrial fuel metabolism and energetics in cultured human fibroblasts: effects of pyruvate dehydrogenase complex deficiency and dichloroacetate.
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1? Subunit Gene (PDHA1).
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity.
Mutational study in the PDHA1 gene of 40 patients suspected 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.
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.
Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting.
Novel mutation (R263X) of the E1? subunit in pyruvate dehydrogenase complex deficiency.
Personalized Dosing of Dichloroacetate Using GSTZ1 Clinical Genotyping Assay.
Phenotypic overlap between pyruvate dehydrogenase complex deficiency and FOXG1 syndrome.
Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis.
Prenatal presentation of pyruvate dehydrogenase complex deficiency.
Prospective study of growth and bone mass in Swedish children treated with the modified Atkins diet.
Proton MR spectroscopy in a child with pyruvate dehydrogenase complex deficiency.
Pyruvate dehydrogenase complex deficiency and absence of subunit X.
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation.
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.
Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant.
Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant: Correspondence.
Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
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 Complex Deficiency: An Unusual Cause of Recurrent Lactic Acidosis in a Paediatric Critical Care Unit.
Pyruvate dehydrogenase complex deficiency: biochemical and immunoblot analysis of cultured skin fibroblasts.
Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.
Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients.
Pyruvate dehydrogenase deficiency: molecular basis for intrafamilial heterogeneity.
Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype.
Pyruvate dehydrogenase phosphatase deficiency: a cause of congenital chronic lactic acidosis in infancy.
Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation.
Pyruvate dehydrogenase phosphatase deficiency: Orphan disease or an under-diagnosed condition?
Pyruvate Dehydrogenase-E1? Deficiency Presenting as Recurrent Demyelination: An Unusual Presentation and a Novel Mutation.
Recurrent muscle weakness and ataxia in thiamine-responsive pyruvate dehydrogenase complex deficiency.
Reprogramming of aerobic glycolysis in non-transformed mouse liver with pyruvate dehydrogenase complex deficiency.
Serial Magnetic Resonance Imaging (MRI) in Pyruvate Dehydrogenase Complex Deficiency.
Somatic mosaicism for a novel PDHA1 mutation in a male with severe pyruvate dehydrogenase complex deficiency.
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Sonographic femur length to trunk cross area ratio: prediction of fetal outcome in 30 cases in which micromelia was suspected.
Structural and functional impact of clinically relevant E1? variants causing pyruvate dehydrogenase complex deficiency.
The changing face of dietary therapy for epilepsy.
The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.
The expanding clinical spectrum of mitochondrial diseases.
The mitochondrial epilepsies.
The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.
Therapeutic efficacy of a case of pyruvate dehydrogenase complex deficiency monitored by localized proton magnetic resonance spectroscopy.
Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency.
Thiamine Responsive Pyruvate Dehydrogenase Complex Deficiency: A Potentially Treatable Cause of Leigh's Disease.
Tissue-specific pyruvate dehydrogenase complex deficiency causes cardiac hypertrophy and sudden death of weaned male mice.
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.
[Analysis of a female neonate with pyruvate dehydrogenase complex deficiency].
[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case].
[Diagnosis of pyruvate dehydrogenase complex deficiency in biopsied muscles and cultured skin fibroblasts]
[Evaluation of a rapid diagnosis of congenital lactic acidemia by transported peripheral blood samples]
[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency].
[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]
[Magnetic resonance imaging in thiamine responsive pyruvate dehydrogenase complex deficiency]
[Pyruvate dehydrogenase complex deficiency]
[Pyruvate dehydrogenase phosphatase deficiency]