Disease: Lipoamide dehydrogenase deficiency
- A case of epilepsy, movement disorders associated with a mutation in the PDHA1 gene in a preschool child
- A Lipoylated Metabolic Protein Released by Staphylococcus aureus Suppresses Macrophage Activation
- Activation of Hepatic Branched-Chain alpha-Ketoacid Dehydrogenase Complex by Vitamin D Deficiency in Rats
- Activation of Hepatic Branched-Chain α-Ketoacid Dehydrogenase Complex by Vitamin D Deficiency in Rats
- Acute Flaccid Paralysis due to Pyruvate Dehydrogenase E1-Alpha Deficiency
- An insight into the role of branched-chain alpha-keto acid dehydrogenase (BKD) complex in branched-chain fatty acid biosynthesis and virulence of Listeria monocytogenes
- An Updated View on the Molecular Pathomechanisms of Human Dihydrolipoamide Dehydrogenase Deficiency in Light of Novel Crystallographic Evidence
- Analysis of a female neonate with pyruvate dehydrogenase complex deficiency
- Analysis of PDHA1 gene variant in a patient with pyruvate dehydrogenase E1alpha deficiency and pyramidal tract involvement
- Attenuation of radiation toxicity by the phosphine resistance factor dihydrolipoamide dehydrogenase (DLD)
- BDK Deficiency in Cerebral Cortex Neurons Causes Neurological Abnormalities and Affects Endurance Capacity
- BDK inhibition acts as a catabolic switch to mimic fasting and improve metabolism in mice
- Biochemical characterization of patients with dihydrolipoamide dehydrogenase deficiency
- Branched-chain alpha-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes
- Branched-Chain Amino Acid Catabolism Impacts Triacylglycerol Homeostasis in <em>Chlamydomonas reinhardtii</em>
- Branched-chain amino acids promote thrombocytopoiesis by activating mTOR signaling
- Branched-chain amino acids regulate type I tropocollagen and type III tropocollagen syntheses via modulation of mTOR in the skin
- Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes
- Carbamazepine responsive episodic dystonia and hallucination due to pyruvate dehydrogenase E2 (DLAT) gene mutation
- Characterization of the impact of glutaredoxin-2 (GRX2) deficiency on superoxide/hydrogen peroxide release from cardiac and liver mitochondria
- Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene
- Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy
- Clues and challenges in the diagnosis of intermittent maple syrup urine disease
- Comparison Between Dichloroacetate and Phenylbutyrate Treatment for Pyruvate Dehydrogenase Deficiency
- Crystal structures of the disease-causing D444V mutant and the relevant wild type human dihydrolipoamide dehydrogenase
- Decreased pyruvate dehydrogenase activity in Tafazzin-deficient cells is caused by dysregulation of pyruvate dehydrogenase phosphatase 1 (PDP1)
- Dehydrogenase (DLD) Deficiency in an Iranian Patient with Recurrent Intractable Vomiting: Successful Treatment with Thiamine Supplementation
- Dendritic Cells Require PINK1-Mediated Phosphorylation of BCKDE1α to Promote Fatty Acid Oxidation for Immune Function
- DHTKD1 and OGDH display substrate overlap in cultured cells and form a hybrid 2-oxo acid dehydrogenase complex in vivo
- Dichloroacetate and thiamine improve survival and mitochondrial stress in a C. elegans model of dihydrolipoamide dehydrogenase deficiency
- Dietary branched-chain amino acid restriction alters fuel selection and reduces triglyceride stores in hearts of Zucker fatty rats
- Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
- Dihydrolipoamide dehydrogenase regulates cystine deprivation-induced ferroptosis in head and neck cancer
- Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture
- Divergent Induction of Branched-Chain Aminotransferases and Phosphorylation of Branched Chain Keto-Acid Dehydrogenase Is a Potential Mechanism Coupling Branched-Chain Keto-Acid-Mediated-Astrocyte Activation to Branched-Chain Amino Acid Depletion-Mediated
- dldhcri3 zebrafish exhibited altered mitochondrial ultrastructure, morphology and dysfunction partially rescued by probucol or thiamine
- Effect of hypoxia factors gene silencing on ROS production and metabolic status of A375 malignant melanoma cells
- Endurance performance and energy metabolism during exercise in mice with a muscle-specific defect in the control of branched-chain amino acid catabolism
- Enzymatic testing sensitivity, variability and practical diagnostic algorithm for pyruvate dehydrogenase complex (PDC) deficiency
- Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1alpha subunit of the pyruvate dehydrogenase complex
- Folding and assembly defects of pyruvate dehydrogenase deficiency-related variants in the E1α subunit of the pyruvate dehydrogenase complex
- Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease
- FOXK1 and FOXK2 regulate aerobic glycolysis
- Functional Consequences of PDK4 Deficiency in Doberman Pinscher Fibroblasts
- Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing
- Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry
- Glutathionylation of Pyruvate Dehydrogenase Complex E2 Protein During Acute Inflammation Is Magnified By Mitochondrial Oxidative Stress, Enhancing Cell Death
- Glycine encephalopathy
- Human dihydrolipoamide dehydrogenase (E3) deficiency: Novel insights into the structural basis and molecular pathomechanism
- Identification of Differential Expression Genes between Volume and Pressure Overloaded Hearts Based on Bioinformatics Analysis
- Impairment of Thiamine Transport at the GUT-BBB-AXIS Contributes to Wernicke's Encephalopathy
- Lipoamide dehydrogenase (LADH) deficiency: medical perspectives of the structural and functional characterization of LADH and its pathogenic variants
- Loss of the <em>Drosophila</em> branched-chain α-ketoacid dehydrogenase complex results in neuronal dysfunction
- Loss of the Drosophila branched-chain alpha-ketoacid dehydrogenase complex results in neuronal dysfunction
- Loss of the Drosophila branched-chain α-keto acid dehydrogenase complex (BCKDH) results in neuronal dysfunction
- Manifestations of X-linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers
- Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity
- Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile
- Massive parallel sequencing identifies RAPSN and PDHA1 mutations causing fetal akinesia deformation sequence
- Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1
- Microbiome and ileum transcriptome revealed the boosting effects of selenium yeast on egg production in aged laying hens
- Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism
- Mitochondrial p32/C1qbp Is a Critical Regulator of Dendritic Cell Metabolism and Maturation
- Molecular basis of various forms of maple syrup urine disease in Chilean patients
- Muscle-specific deletion of BDK amplifies loss of myofibrillar protein during protein undernutrition
- Neuron-specific knockdown of Drosophila PDHB induces reduction of lifespan, deficient locomotive ability, abnormal morphology of motor neuron terminals and photoreceptor axon targeting
- Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study
- Novel Loss of Function Variant in BCKDK Causes a Treatable Developmental and Epileptic Encephalopathy
- Novel presentations associated with a PDHA1 variant - Alternating hemiplegia in Hemizygote proband and Guillain Barre Syndrome in Heterozygote mother
- Ohr plays a central role in bacterial responses against fatty acid hydroperoxides and peroxynitrite
- Outcomes from a Single Transplant Center of 5 Pediatric Cases of Domino Liver Transplantation from Live Donors with Maple Syrup Urine Disease
- Poldip2 is an oxygen-sensitive protein that controls PDH and αKGDH lipoylation and activation to support metabolic adaptation in hypoxia and cancer
- Post-translational regulation of metabolism in fumarate hydratase deficient cancer cells
- 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 PDHA1 Mutation-A Rare Treatable Cause for Episodic Ataxia in Children
- Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients
- Pyruvate dehydrogenase-E1alpha deficiency presenting as generalized dystonia: A genetic diagnosis with important clinical implications
- Recurrent Liver Failure in an 11-Year-Old Boy
- Roles of Dihydrolipoamide Dehydrogenase in Health and Disease
- Roles of pyruvate dehydrogenase and branched-chain alpha-keto acid dehydrogenase in branched-chain membrane fatty acid levels and associated functions in Staphylococcus aureus
- Roles of pyruvate dehydrogenase and branched-chain α-keto acid dehydrogenase in branched-chain membrane fatty acid levels and associated functions in Staphylococcus aureus
- Simulations of Pathogenic E1alpha Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function
- Simulations of Pathogenic E1α Variants: Allostery and Impact on Pyruvate Dehydrogenase Complex-E1 Structure and Function
- Solvent accessibility of E1alpha and E1beta residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function
- Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function
- Structural alterations by five disease-causing mutations in the low-pH conformation of human dihydrolipoamide dehydrogenase (hLADH) analyzed by molecular dynamics - Implications in functional loss and modulation of reactive oxygen species generation by pa
- Structural and Biochemical Investigation of Selected Pathogenic Mutants of the Human Dihydrolipoamide Dehydrogenase
- Structural and functional impact of clinically relevant E1alpha variants causing pyruvate dehydrogenase complex deficiency
- Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency
- Structure of the dihydrolipoamide succinyltransferase (E2) component of the human alpha-ketoglutarate dehydrogenase complex (hKGDHc) revealed by cryo-EM and cross-linking mass spectrometry: Implications for the overall hKGDHc structure
- Targeting BCAA Catabolism to Treat Obesity-Associated Insulin Resistance
- The diagnostic challenge of mild citrulline elevation at newborn screening
- The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency
- The natural history of dihydrolipoamide dehydrogenase deficiency in Israel
- The phenotypic spectrum of dihydrolipoamide dehydrogenase deficiency in Saudi Arabia
- The recent insights into the function of ACAT1: A possible anti-cancer therapeutic target
- The Role of Branched Chain Ketoacid Dehydrogenase Kinase (BCKDK) in Skeletal Muscle Biology and Pathogenesis
- Thioredoxins o1 and h2 jointly adjust mitochondrial dihydrolipoamide dehydrogenase-dependent pathways towards changing environments
- Three novel mutations of the <em>BCKDHA</em>, <em>BCKDHB</em> and <em>DBT</em> genes in Chinese children with maple syrup urine disease
- Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants