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  1. 1
    "The sequence of the human genome."
    Venter J.C., Adams M.D., Myers E.W., Li P.W., Mural R.J., Sutton G.G., Smith H.O., Yandell M., Evans C.A., Holt R.A., Gocayne J.D., Amanatides P., Ballew R.M., Huson D.H., Wortman J.R., Zhang Q., Kodira C.D., Zheng X.H.
    Zhu X.
    Science 291:1304-1351(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Category: Sequences.
    Source: UniProtKB/TrEMBL (unreviewed).

    This publication is cited by 8197 other entries.

  2. 2
    Category: Sequences.
    Source: UniProtKB/TrEMBL (unreviewed).
  3. 3
    "Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components."
    Hiromasa Y., Fujisawa T., Aso Y., Roche T.E.
    J. Biol. Chem. 279:6921-6933(2004) [PubMed] [Europe PMC] [Abstract]
    Category: Interaction.
    Annotation: model of the pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and binding of the E1 and E3 components.
    Source: GeneRIF:5160.

    This publication is cited by 5 and mapped to 21 other entries.

  4. 4
    "Epitope mapping on E1alpha subunit of pyruvate dehydrogenase complex with autoantibodies of patients with primary biliary cirrhosis."
    Mori T., Ono K., Hakozaki M., Kochi H.
    Liver Int. 23:355-362(2003) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: determinant spreading might underlie the autoimmunity against Elalpha.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  5. 5
    Category: Sequences.
    Annotation: PDHA1 gene mutations may have a role in Pyruvate dehydrogenase E1 subunit deficiency.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  6. 6
    "Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex."
    Strassburg H.M., Koch J., Mayr J., Sperl W., Boltshauser E.
    Neuropediatrics 37:137-141(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Molecular genetic analysis of the X-chromosomal E1alpha subunit of PDH showed three new mutations in phylogenetically conserved areas of the protein: Glu358Lys in patient 1; Arg88Lys in patient 2 and 3 (brothers); and Leu216Ser in patient 4.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  7. 7
    "PDH-E1alpha dephosphorylation and activation in human skeletal muscle during exercise: effect of intralipid infusion."
    Pilegaard H., Birk J.B., Sacchetti M., Mourtzakis M., Hardie D.G., Stewart G., Neufer P.D., Saltin B., van Hall G., Wojtaszewski J.F.
    Diabetes 55:3020-3027(2006) [PubMed] [Europe PMC] [Abstract]
    Category: Function, PTM / Processing.
    Annotation: Short-term elevation in plasma non-esterified fatty acids at rest increases PDH-E1alpha phosphorylation but exercise overrules this effect and phosphorylation leads to even dephosphorylation during exercise with intralipid infusion.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  8. 8
    "The acute effects of differential dietary fatty acids on human skeletal muscle pyruvate dehydrogenase activity."
    Bradley N.S., Heigenhauser G.J., Roy B.D., Staples E.M., Inglis J.G., LeBlanc P.J., Peters S.J.
    J. Appl. Physiol. 104:1-9(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Attenuated PDHa activity contributes to the preferential oxidation of n-6 PUFA during moderate-intensity exercise.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  9. 9
    "Regulation of PDH in human arm and leg muscles at rest and during intense exercise."
    Kiilerich K., Birk J.B., Damsgaard R., Wojtaszewski J.F., Pilegaard H.
    Am. J. Physiol. Endocrinol. Metab. 294:E36-42(2008) [PubMed] [Europe PMC] [Abstract]
    Category: PTM / Processing, Sequences.
    Annotation: Resting PDH protein content and phosphorylation on PDH-E1 alpha sites 1 and 2 were higher in vastus lateralis than in triceps and deltoid as was the activity of oxidative enzymes.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  10. 10
    "Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer."
    Boichard A., Venet L., Naas T., Boutron A., Chevret L., de Baulny H.O., De Lonlay P., Legrand A., Nordman P., Brivet M.
    Mol. Genet. Metab. 93:323-330(2008) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: two synonymous mutations expand the spectrum of rare PDHA1 splicing mutations all of which are located in non canonical splice sites.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  11. 11
    "Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation."
    Joao Silva M., Pinheiro A., Eusebio F., Gaspar A., Tavares de Almeida I., Rivera I.
    Eur. J. Pediatr. 168:17-22(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: Our results encourage the use of amino acid supplementation to overcome the metabolic/biochemical changes induced by PDHA1 gene specific mutations associated with mild pyruvate dehydrogenase complex phenotypes.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  12. 12
    Category: Sequences.
    Annotation: In this study the phenotypes of patients with PDH deficiency have been divided into three groups of mutations.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  13. 13
    "AAV3-mediated transfer and expression of the pyruvate dehydrogenase E1 alpha subunit gene causes metabolic remodeling and apoptosis of human liver cancer cells."
    Glushakova L.G., Lisankie M.J., Eruslanov E.B., Ojano-Dirain C., Zolotukhin I., Liu C., Srivastava A., Stacpoole P.W.
    Mol. Genet. Metab. 98:289-299(2009) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Sequences.
    Annotation: AAV3-mediated transfer and expression of the pyruvate dehydrogenase E1 alpha subunit gene causes metabolic remodeling and apoptosis of human liver cancer cells.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  14. 14
    Category: Sequences.
    Annotation: PDHA1 mutations were screened in 40 patients with biochemically demonstrated pyruvate dehydrogenase complex deficiency deficiency or strong clinical suspicion and changes with probable pathological significance were found in 20.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  15. 15
    "Novel mutation (R263X) of the E1alpha subunit in pyruvate dehydrogenase complex deficiency."
    Sato S., Ioi H., Kashiwagi Y., Kawashima H., Miyajima T., Naito E., Hoshika A.
    Pediatr Int 52:e181-3(2010) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Novel nonsense mutation (R263X) of the E1alpha subunit in pyruvate dehydrogenase complex deficiency.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  16. 16
    "Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene."
    Magner M., Vinsova K., Tesarova M., Hajkova Z., Hansikova H., Wenchich L., Jesina P., Smolka V., Adam T., Vaneckova M., Zeman J., Honzik T.
    Prague Med Rep 112:18-28(2011) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: We document the broad variability of clinical symptoms of pdha1 deficiency disease. We proved that normal PDHc activity may not exclude the disease.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  17. 17
    "MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency."
    Ah Mew N., Loewenstein J.B., Kadom N., Lichter-Konecki U., Gropman A.L., Martin J.M., Vanderver A.
    Pediatr. Neurol. 45:57-59(2011) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: 4 affected female patients with PDHA1 mutations who had with severe cortical atrophy dilated ventricles and an incomplete corpus callosum.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  18. 18
    "Pyruvate dehydrogenase inhibition by the inflammatory cytokine TNFalpha contributes to the pathogenesis of pulmonary arterial hypertension."
    Sutendra G., Dromparis P., Bonnet S., Haromy A., McMurtry M.S., Bleackley R.C., Michelakis E.D.
    J. Mol. Med. 89:771-783(2011) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: TNFalpha can inhibit pulmonary artery smooth muscle cells pyruvate dehydrogenase activity and induce a pulmonary arterial hypertension phenotype.
    Source: GeneRIF:5160.

    This publication is mapped to 19 other entries.

  19. 19
    "Erk regulation of pyruvate dehydrogenase flux through PDK4 modulates cell proliferation."
    Grassian A.R., Metallo C.M., Coloff J.L., Stephanopoulos G., Brugge J.S.
    Genes Dev. 25:1716-1733(2011) [PubMed] [Europe PMC] [Abstract]
    Category: Function.
    Annotation: Data show that overexpression of ErbB2 maintains PDH flux by suppressing PDK4 expression in an Erk-dependent manner.
    Source: GeneRIF:5160.

    This publication is mapped to 36 other entries.

  20. 20
    "Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency."
    Sharma R., Sharrard M.J., Connolly D.J., Mordekar S.R.
    Dev Med Child Neurol 54:469-471(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Skin fibroblast culture assay revealed PDH deficiency confirmed by mutation analysis of the E1 alpha subunit.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  21. 21
    "Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein."
    Imbard A., Boutron A., Vequaud C., Zater M., de Lonlay P., de Baulny H.O., Barnerias C., Mine M., Marsac C., Saudubray J.M., Brivet M.
    Mol. Genet. Metab. 104:507-516(2011) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: 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.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  22. 22
    "Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility."
    Giribaldi G., Doria-Lamba L., Biancheri R., Severino M., Rossi A., Santorelli F.M., Schiaffino C., Caruso U., Piemonte F., Bruno C.
    Dev Med Child Neurol 54:472-476(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Pathology & Biotech, Sequences.
    Annotation: Molecular analysis of PDH1A revealed a novel hemizygous c.1045G>A mutation predicting a p.A349T missense mutation.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  23. 23
    "Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1alpha subunit genes in human spermatogenesis."
    Pinheiro A., Silva M.J., Graca I., Silva J., Sa R., Sousa M., Barros A., Tavares de Almeida I., Rivera I.
    Gene 506:173-178(2012) [PubMed] [Europe PMC] [Abstract]
    Category: Expression, Sequences.
    Annotation: 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.
    Source: GeneRIF:5160.

    This publication is mapped to 9 other entries.

  24. 24
    "HIV-1 Vpr enhances PPARbeta/delta-mediated transcription, increases PDK4 expression, and reduces PDC activity."
    Shrivastav S., Zhang L., Okamoto K., Lee H., Lagranha C., Abe Y., Balasubramanyam A., Lopaschuk G.D., Kino T., Kopp J.B.
    Mol. Endocrinol. 27:1564-1576(2013) [PubMed] [Europe PMC] [Abstract]
    Category: Function, Interaction.
    Annotation: In the presence of PPARbeta/delta Vpr induced a 3.3-fold increase in PPAR response element-driven transcriptional activity a 1.9-fold increase in PDK4 protein expression and a 1.6-fold increase in the phosphorylated pyruvate dehydrogenase subunit E1alpha.
    Source: GeneRIF:5160.

    This publication is mapped to 14 other entries.

  25. 25
    "Combined evaluation of hexokinase 2 and phosphorylated pyruvate dehydrogenase-E1alpha in invasive front lesions of colorectal tumors predicts cancer metabolism and patient prognosis."
    Hamabe A., Yamamoto H., Konno M., Uemura M., Nishimura J., Hata T., Takemasa I., Mizushima T., Nishida N., Kawamoto K., Koseki J., Doki Y., Mori M., Ishii H.
    Cancer Sci. 105:1100-1108(2014) [PubMed] [Europe PMC] [Abstract]
    Category: Sequences.
    Annotation: High HK2 expression combined with low phosphorylated PDHA1 expression in the invasive front lesions of colorectal tumors is predictive of tumor aggressiveness and survival.
    Source: GeneRIF:5160.

    This publication is mapped to 16 other entries.

1 to 25 of 40  Show
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