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Pyruvate dehydrogenase

PDHA1, pyruvate dehydrogenase E1 alpha subunit, pyruvate dehydrogenase E1 alpha
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] (from NCBI)
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Top mentioned proteins: ACID, HAD, CAN, AGE, OUT
Papers on PDHA1
[Diagnosis of mitochondrial disorders in children with next generation sequencing].
Wu et al., Beijing, China. In Zhonghua Er Ke Za Zhi, Oct 2015
Ten mitochondrial disease patients harbored homozygous or compound heterozygous mutations in 5 genes previously shown to cause disease: SURF1, PDHA1, NDUFV1, SUCLA2 and SUCLG1, which had 14 mutations, and 7 of the 14 mutations have not been reported.
Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency--An overview.
Aguan et al., Shillong, India. In Epilepsy Res, Oct 2015
In this review, we aim to discuss the relationship between occurrence of epilepsy and PDHc deficiency associated with the pyruvate dehydrogenase complex (E1α subunit (PDHA1) and E1β subunit (PDHB)) and PDH phosphatase (PDP) deficiency.
The oncoprotein HBXIP promotes glucose metabolism reprogramming via downregulating SCO2 and PDHA1 in breast cancer.
Ye et al., Tianjin, China. In Oncotarget, Oct 2015
Expression of synthesis of cytochrome c oxidase 2 (SCO2) and pyruvate dehydrogenase alpha 1 (PDHA1), two factors of metabolic switch from oxidative phosphorylation to aerobic glycolysis, was suppressed by HBXIP.
Pyruvate dehydrogenase deficiency presenting as isolated paroxysmal exercise induced dystonia successfully reversed with thiamine supplementation. Case report and mini-review.
Miranda et al., Santiago, Chile. In Eur J Paediatr Neurol, Sep 2015
BACKGROUND: Pyruvate dehydrogenase (PDH) deficiency is a disorder of energy metabolism with variable clinical presentations, ranging from severe infantile lactic acidosis to milder chronic neurological disorders.
[Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency].
Cheng et al., Guangzhou, China. In Zhongguo Dang Dai Er Ke Za Zhi, Aug 2015
OBJECTIVE: To study the molecular genetic mechanism and genetic diagnosis of pyruvate dehydrogenase complex deficiency (PHD), and to provide a basis for genetic counseling and prenatal genetic diagnosis of PHD.
Differing roles of pyruvate dehydrogenase kinases during mouse oocyte maturation.
Wang et al., Nanjing, China. In J Cell Sci, Aug 2015
Pyruvate dehydrogenase kinases (PDKs) modulate energy homeostasis in multiple tissues and cell types, under various nutrient conditions, through phosphorylation of the α subunit (PDHE1α, also known as PDHA1) of the pyruvate dehydrogenase (PDH) complex.
Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.
Navas et al., Sevilla, Spain. In Eur J Hum Genet, Jun 2015
Exome sequencing showed mutations in PDHA1 in the first patient and in PDHB in the second.
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders.
Mayr et al., Salzburg, Austria. In J Inherit Metab Dis, May 2015
PODs are not only caused by deficiency of subunits of the pyruvate dehydrogenase complex (PDHC) but also by various disorders recently described in the whole pyruvate oxidation route including cofactors, regulation of PDHC and the mitochondrial pyruvate carrier.
[Comparative analysis of the role of CD4(+) and CD8(+) T cells in severe asthma development].
Yin et al., Jinan, China. In Mol Biol (mosk), May 2015
One module of CD8^(+) T cells containing PDHA1 and MRPL42 was identified to be related with glycolysis.
Detection of Selection Signatures on the X Chromosome in Three Sheep Breeds.
Du et al., Beijing, China. In Int J Mol Sci, 2014
We also identified some selection regions harboring genes that had human orthologs, including BKT, CENPI, GUCY2F, MSN, PCDH11X, PLP1, VSIG4, PAK3, WAS, PCDH19, PDHA1, and SRPX2.
Global comparison of chromosome X genes of pulmonary telocytes with mesenchymal stem cells, fibroblasts, alveolar type II cells, airway epithelial cells, and lymphocytes.
Wang et al., Shanghai, China. In J Transl Med, 2014
RESULTS: We selected 31 chromosome X genes as the TC-specific or dominated genes, among which 8 up-regulated (Flna, Msn, Cfp, Col4a5, Mum1l1, Rnf128, Syn1, and Srpx2) and 23 down-regulated (Abcb7, Atf1, Ddx26b, Drp2, Fam122b, Gyk, Irak1, Lamp2, Mecp2, Ndufb11, Ogt, Pdha1, Pola1, Rab9, Rbmx2, Rhox9, Thoc2, Vbp1, Dkc1, Nkrf, Piga, Tmlhe and Tsr2), as compared with other cells.
Metabolic plasticity maintains proliferation in pyruvate dehydrogenase deficient cells.
DeBerardinis et al., Dallas, United States. In Cancer Metab, 2014
BACKGROUND: Pyruvate dehydrogenase (PDH) occupies a central node of intermediary metabolism, converting pyruvate to acetyl-CoA, thus committing carbon derived from glucose to an aerobic fate rather than an anaerobic one.
Effects of downregulating GLIS1 transcript on preimplantation development and gene expression of bovine embryos.
Sawai et al., Japan. In J Reprod Dev, 2014
Gene transcripts of PDHA1 and HSPA8, which are transcribed after ZGA, showed lower level in GLIS1 downregulated embryos.
Pyruvate dehydrogenase E1α phosphorylation is induced by glucose but does not control metabolism-secretion coupling in INS-1E clonal β-cells.
Wiederkehr et al., Genève, Switzerland. In Biochim Biophys Acta, 2012
Although glucose stimulates E1alpha phosphorylation and therefore inhibits PDH activity, this control mechanism by itself does not alter metabolism-secretion coupling in INS-1E clonal beta-cells.
Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis.
Rivera et al., Lisbon, Portugal. In Gene, 2012
Expression of the PDHA1 gene was found in all somatic cells, whereas expression of PDHA2 gene was restricted to germ cells. The switch from X-linked to autosomic gene expression occurred in spermatocytes.
Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.
Mordekar et al., Sheffield, United Kingdom. In Dev Med Child Neurol, 2012
Skin fibroblast culture assay revealed PDH deficiency, confirmed by mutation analysis of the E1 alpha subunit.
Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.
Bruno et al., Genova, Italy. In Dev Med Child Neurol, 2012
Molecular analysis of PDH1A revealed a novel hemizygous c.1045G>A mutation, predicting a p.A349T missense mutation.
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein.
Brivet et al., Paris, France. In Mol Genet Metab, 2011
We provide an efficient stepwise strategy for mutation screening in pyruvate dehydrogenase complex genes and expand the growing list of PDHA1 mutations analyzed at the structural level
Pyruvate dehydrogenase deficiency and epilepsy.
Prasad et al., London, Canada. In Brain Dev, 2011
In this mini-review, we postulate mechanisms of epilepsy in the setting of PDHc deficiency using two illustrative cases (one with pyruvate dehydrogenase complex E1-alpha polypeptide (PDHA1) deficiency and the second one with pyruvate dehydrogenase complex E1-beta subunit (PDHB) deficiency (a rare subtype of PDHc deficiency)) and a selected review of published case series.
A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.
Bonnefont et al., Paris, France. In Hum Mutat, 2005
This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD).
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