PDHA1

Summary

Gene Symbol: PDHA1
Description: pyruvate dehydrogenase (lipoamide) alpha 1
Alias: PDHA, PDHAD, PDHCE1A, PHE1A, pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial, PDHE1-A type I, pyruvate dehydrogenase E1 subunit, pyruvate dehydrogenase complex, E1-alpha polypeptide 1
Species: human

Top Publications

  1. pmc Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex
    Masato Kato
    Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    EMBO J 24:1763-74. 2005
  2. ncbi A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency
    Marie Hélène Odièvre
    Unité Inserm U393, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 25:323-4. 2005
  3. doi Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
    Christine Barnerias
    Neuropaediatric Unit, Necker Hospital, AP HP, Paris, France
    Dev Med Child Neurol 52:e1-9. 2010
  4. ncbi Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit
    Zongchao Han
    Department of Pediatrics, Division of Cellular and Molecular Therapy, Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, FL 32610, USA
    J Biol Chem 283:237-43. 2008
  5. doi Hamster sperm capacitation: role of pyruvate dehydrogenase A and dihydrolipoamide dehydrogenase
    Vivek Kumar
    Centre for Cellular and Molecular Biology, 500 007 Hyderabad, India
    Biol Reprod 79:190-9. 2008
  6. ncbi "In vitro" effects of insulin on the PDH complex of the isolated perfused heart of rats fed a sucrose-rich diet
    A Chicco
    Department of Biochemistry, University of Litoral, Santa Fe, Argentina
    Horm Metab Res 24:313-8. 1992
  7. ncbi Multiphasic metabolic changes in the heart of rats fed a sucrose-rich diet
    A Chicco
    Department of Biochemistry, University of Litoral, Santa Fe, Argentina
    Horm Metab Res 26:397-403. 1994
  8. ncbi Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development
    M T Johnson
    Department of Biochemistry, State University of New York at Buffalo, 3435 Main Street, Buffalo, NY 14214, USA
    Mol Genet Metab 74:293-302. 2001
  9. pmc An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1α
    Carolyn Ojano-Dirain
    Division of Endocrinology and Metabolism, Department of Medicine, University of Florida, Gainesville, FL 32610, USA
    Mol Genet Metab 101:183-91. 2010
  10. doi Liver-specific pyruvate dehydrogenase complex deficiency upregulates lipogenesis in adipose tissue and improves peripheral insulin sensitivity
    Cheol Soo Choi
    Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06510, USA
    Lipids 45:987-95. 2010

Scientific Experts

Detail Information

Publications163 found, 100 shown here

  1. pmc Crystal structure of pyruvate dehydrogenase kinase 3 bound to lipoyl domain 2 of human pyruvate dehydrogenase complex
    Masato Kato
    Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, TX 75390, USA
    EMBO J 24:1763-74. 2005
    ..We hypothesize that this allosteric mechanism accounts, in part, for E2p-augmented PDK3 activity...
  2. ncbi A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency
    Marie Hélène Odièvre
    Unité Inserm U393, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 25:323-4. 2005
    ..This enzymatic complex is made up of three subunits (E1, encoded by PDHA1; E2, encoded by DLST; and E3, encoded by DLD)...
  3. doi Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis
    Christine Barnerias
    Neuropaediatric Unit, Necker Hospital, AP HP, Paris, France
    Dev Med Child Neurol 52:e1-9. 2010
    ..To describe the phenotype and genotype of pyruvate dehydrogenase complex (PDHc) deficiency...
  4. ncbi Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit
    Zongchao Han
    Department of Pediatrics, Division of Cellular and Molecular Therapy, Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, FL 32610, USA
    J Biol Chem 283:237-43. 2008
    ..Surprisingly, nucleotide sequence analyses of cDNAs corresponding to the patient PDH E1alpha (PDHA1) and PDHB genes revealed no pathological mutations...
  5. doi Hamster sperm capacitation: role of pyruvate dehydrogenase A and dihydrolipoamide dehydrogenase
    Vivek Kumar
    Centre for Cellular and Molecular Biology, 500 007 Hyderabad, India
    Biol Reprod 79:190-9. 2008
    ..In this report, using bromopyruvate (BP), an inhibitor of PDHA, we demonstrated that hamster sperm hyperactivation was blocked regardless of whether PDHA was inhibited prior to ..
  6. ncbi "In vitro" effects of insulin on the PDH complex of the isolated perfused heart of rats fed a sucrose-rich diet
    A Chicco
    Department of Biochemistry, University of Litoral, Santa Fe, Argentina
    Horm Metab Res 24:313-8. 1992
    ..reported that the "in situ" myocardial concentrations of the active form of the Pyruvate Dehydrogenase Complex (PDHa) were significantly decreased in hearts obtained from normal rats fed for 3 weeks on an isocaloric sucrose rich (63%..
  7. ncbi Multiphasic metabolic changes in the heart of rats fed a sucrose-rich diet
    A Chicco
    Department of Biochemistry, University of Litoral, Santa Fe, Argentina
    Horm Metab Res 26:397-403. 1994
    ..changes in the activity of the pyruvate dehydrogenase complex (PDH), characterized by a significant decrease in PDHa (active form) in the short term on SRD (3 weeks) when compared to control rats fed the standard chow (STD)...
  8. ncbi Inactivation of the murine pyruvate dehydrogenase (Pdha1) gene and its effect on early embryonic development
    M T Johnson
    Department of Biochemistry, State University of New York at Buffalo, 3435 Main Street, Buffalo, NY 14214, USA
    Mol Genet Metab 74:293-302. 2001
    ..Using gene targeting technology, a silent mutation was introduced into the murine X-linked Pdha1 gene that encodes the alpha subunit of the pyruvate dehydrogenase or E1 component of the complex...
  9. pmc An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1α
    Carolyn Ojano-Dirain
    Division of Endocrinology and Metabolism, Department of Medicine, University of Florida, Gainesville, FL 32610, USA
    Mol Genet Metab 101:183-91. 2010
    ..of the pyruvate dehydrogenase complex using small interfering RNAs directed against the E1α subunit gene (PDHA1)...
  10. doi Liver-specific pyruvate dehydrogenase complex deficiency upregulates lipogenesis in adipose tissue and improves peripheral insulin sensitivity
    Cheol Soo Choi
    Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06510, USA
    Lipids 45:987-95. 2010
    ..There was no incorporation of glucose-carbon into fatty acids by liver in vitro from liver-specific Pdha1 knockout (L-PDHKO) male mice due to absence of hepatic PDC activity...
  11. ncbi Longitudinal assessment of mental health problems among active and reserve component soldiers returning from the Iraq war
    Charles S Milliken
    Division of Psychiatry and Neuroscience, Walter Reed Army Institute of Research, US Army Medical Research and Materiel Command, Silver Spring, Maryland 20910, USA
    JAMA 298:2141-8. 2007
    ..A previous article focusing only on the initial screening is likely to have underestimated the mental health burden...
  12. doi Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia
    F G Debray
    Division of Medical Genetics, Department of Pediatrics, CHU Sainte Justine, Universite de Montreal, Montreal, Quebec, Canada
    Neuropediatrics 39:20-3. 2008
    ..The aim of this study is to report and emphasize unusual presentations of pyruvate dehydrogenase (PDH) deficiency (OMIM 312170)...
  13. ncbi Human populations show reduced DNA sequence variation at the factor IX locus
    E E Harris
    Universidade de Sao Paulo, Cidade Universitaria, Departamento de Biologia, Instituto de Biociencias, Rua do Matão Travessa 14 number 321, CEP 05508 900, Sao Paulo, Brazil
    Curr Biol 11:774-8. 2001
    ..An explicit comparison is made with another X-linked gene, PDHA1, for which the sampling of individuals was very similar...
  14. ncbi Comparative mapping of the Grpr locus on the X chromosomes of man and mouse
    G L Maslen
    MRC Radiobiology Unit, Chilton, Didcot, Oxforshire, United Kingdom
    Genomics 17:106-9. 1993
    ..The Grpr locus mapped between the Pdha-1 and Amg loci on the mouse X chromosome. Studies in man indicate that GRPR maps to the Xp21.2-p22...
  15. ncbi Impairment of glucose metabolism and energy transfer in the rat heart
    Karla Carvajal
    Department of Biochemistry, Instituto Nacional de Cardiologia, Juan Badiano 1, Col Seccion XVI, Tlalpan, Mexico DF 14080, Mexico
    Mol Cell Biochem 249:157-65. 2003
    ..Pyruvate dehydrogenase in its active form (PDHa) diminished as well...
  16. ncbi Requirement for protein synthesis during embryonic genome activation in mice
    Q Wang
    Fels Institute for Cancer Research and Molecular Biology, Philadelphia, Pennsylvania, USA
    Mol Reprod Dev 47:265-70. 1997
    ..protein synthesis is required for the transcriptional activation of six housekeeping genes (U2afbp-rs, Hprt, Pdha1, Prps1, Odc, and Cox7c)...
  17. ncbi Temporal and tissue-specific interactions involving novel transcription factors and the proximal promoter of the mouse Pdha-2 gene
    R C Iannello
    Murdoch Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    J Biol Chem 268:22581-90. 1993
    We have determined by deletion analysis that the most proximal region of the Pdha-2 promoter between nucleotide position -187 to +22 harbors a transcriptionally active core...
  18. ncbi Methylation-dependent silencing of the testis-specific Pdha-2 basal promoter occurs through selective targeting of an activating transcription factor/cAMP-responsive element-binding site
    R C Iannello
    Centre for Functional Genomics and Human Disease, Monash Institute of Reproduction and Development, Monash Medical Centre, 246 Clayton Road, Clayton, Victoria 3168, Australia
    J Biol Chem 275:19603-8. 2000
    In this study, we demonstrate that methylation-dependent repression of the Pdha-2 core promoter is mediated regionally through a consensus activating transcription factor/cAMP-responsive element-binding site located between nucleotides -..
  19. ncbi Differential expression of two testis-specific transcripts of the mouse Pdha-2 gene during spermatogenesis
    J Fitzgerald
    Department of Anesthetics, University of California, San Francisco 94143
    DNA Cell Biol 13:531-7. 1994
    Analysis of the expression of the testis-specific isoform of the mouse pyruvate dehydrogenase E1 alpha subunit gene (Pdha-2) during various stages of spermatogenesis has shown that a 2...
  20. ncbi New insights into the man-mouse comparative map of the X chromosome
    H J Blair
    Genetics Division, MRC Radiobiology Unit, Chilton, Didcot, England
    Genomics 19:212-20. 1994
    ..have been positioned between the loci for proteolipid protein (Plp) and the E1a subunit of pyruvate dehydrogenase (Pdha1) in the distal region of the mouse X chromosome using Mus musculus x Mus spretus interspecific backcrosses...
  21. ncbi Pyruvate dehydrogenase complex from the primitive insect trypanosomatid, Crithidia fasciculata: dihydrolipoyl dehydrogenase-binding protein has multiple lipoyl domains
    F Diaz
    Department of Biology, University of Toledo, OH 43606 3390, USA
    Mol Biochem Parasitol 75:87-97. 1995
    ..The purified complex did not exhibit endogenous PDHa kinase activity. p70 was much less abundant than p60...
  22. ncbi Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis
    H J Blair
    MRC Mammalian Genetics Unit, Harwell, Oxon OX11 0RD, UK
    Hum Mol Genet 7:549-55. 1998
    ..0 cM of genetic material, including Rsk2 and the pyruvate dehydrogenase E1alpha subunit gene, Pdha1 ...
  23. pmc Carbohydrate ingestion reduces skeletal muscle acetylcarnitine availability but has no effect on substrate phosphorylation at the onset of exercise in man
    Matthew J Watt
    Department of Human Biology and Nutritional Sciences, University of Guelph, Ontario N1G 2W1, Canada
    J Physiol 544:949-56. 2002
    ..3 +/- 0.6 micromol (kg d.m.)(-1), P < 0.05) were lower at rest, whereas pyruvate dehydrogenase activation (PDHa) was greater in CHO compared with CON (CON, 0.78 +/- 0.07; CHO, 1.44 +/- 0.19 mmol min(-1) (kg wet mass (w.m...
  24. ncbi The pyruvate dehydrogenase complex of Mycoplasma hyopneumoniae contains a novel lipoyl domain arrangement
    Jake N Matic
    Microbiology and Immunology Section, Elizabeth Macarthur Agricultural Institute, Private Mail Bag 8, Camden, NSW, Australia
    Gene 319:99-106. 2003
    The genes encoding the pyruvate dehydrogenase (PDH) complex (pdhA, pdhB, pdhC and pdhD) from Mycoplasma hyopneumoniae have been cloned and sequenced...
  25. ncbi [Relationship between apoptosis and alteration of the energetic metabolism pathways of hypertrophic cardiomyocytes induced by hypoxia-reoxygenation]
    Bing Feng
    Department of Kidney Disease, Xinqiao Hospital, The Third Military Medical University, Chongqing 400037, China
    Sheng Li Xue Bao 57:636-42. 2005
    ..The results are as follows: (1) The activity of active PDH (PDHa) was slightly higher in hypertrophic cardiomyocytes than that in normal cardiomyocytes, but the activity of CPT-1 ..
  26. doi Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency
    Cheryl K Ridout
    Genetics Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK
    Hum Genet 124:187-93. 2008
    Somatic mosaicism for a mutation in the X-linked PDHA1 gene was found in a girl who presented with manifestations of pyruvate dehydrogenase deficiency...
  27. pmc Design of an injectable synthetic and biodegradable surgical biomaterial
    Peter N Zawaneh
    Department of Biomedical Engineering, School of Chemical and Biomolecular Engineering, Cornell University, Ithaca, NY 14853, USA
    Proc Natl Acad Sci U S A 107:11014-9. 2010
    ..biodegradable polymeric biomaterial comprised of polyethylene glycol and a polycarbonate of dihydroxyacetone (MPEG-pDHA)...
  28. pmc The pdh operon is expressed in a subpopulation of stationary-phase bacteria and is important for survival of sugar-starved Streptococcus mutans
    Monica Busuioc
    Department of Microbiology and Immunology, Temple University School of Medicine, Philadelphia, Pennsylvania 19140, USA
    J Bacteriol 192:4395-402. 2010
    ..We show that pdhD and the downstream genes pdhA, pdhB, and pdhC form an operon that is predominantly transcribed in stationary phase...
  29. doi PDH activation during in vitro muscle contractions in PDH kinase 2 knockout mice: effect of PDH kinase 1 compensation
    Emily C Dunford
    Centre for Muscle Metabolism and Biophysics, Brock University, St Catharines, Ontario, Canada
    Am J Physiol Regul Integr Comp Physiol 300:R1487-93. 2011
    ..The role of PDK2 on PDH activation (PDHa) at rest and during muscle stimulation at 10 and 40 Hz (eliciting low- and moderate-intensity muscle contractions, ..
  30. doi Role of pyruvate dehydrogenase kinase 4 in regulating PDH activation during acute muscle contraction
    Eric A F Herbst
    Department of Kinesiology, Brock University, ON N1G 2W1, Canada
    Appl Physiol Nutr Metab 37:48-52. 2012
    ..To investigate the role that PDK4 plays in regulating PDH activation (PDHa) during muscle contraction, mouse extensor digitorum muscle was removed from wild type (WT) and PDK4-knockout (PDK4-..
  31. doi Growth hormone-induced insulin resistance in human subjects involves reduced pyruvate dehydrogenase activity
    B Nellemann
    Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark
    Acta Physiol (Oxf) 210:392-402. 2014
    ..We hypothesized that suppression of the activity of pyruvate dehydrogenase in the active form (PDHa) underlies GH-induced insulin resistance similar to what is observed during fasting.
  32. pmc Increased 8-hydroxy-2'-deoxyguanosine in plasma and decreased mRNA expression of human 8-oxoguanine DNA glycosylase 1, anti-oxidant enzymes, mitochondrial biogenesis-related proteins and glycolytic enzymes in leucocytes in patients with systemic lupus ery
    H T Lee
    Institute of Clinical Medicine, National Yang Ming University, Taipei, Taiwan Faculty of Medicine, National Yang Ming University, Taipei, Taiwan Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, Mackay Memorial Hospital, Taipei, Taiwan Department of Medicine, Mackay Medical College, New Taipei City, Taiwan
    Clin Exp Immunol 176:66-77. 2014
    ..factor A (Tfam), nuclear respiratory factor 1(NRF-1), pyruvate dehydrogenase E1 component alpha subunit (PDHA1), pyruvate dehydrogenase kinase isoenzyme 1 (PDK-1) and hypoxia inducible factor-1α (HIF-1α) and the glycolytic ..
  33. pmc Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content
    Claudio Asencio
    Centro Andaluz de Biologia del Desarrollo, Universidad Pablo de Olavide CSIC and CIBERER, Instituto de Salud Carlos III, Sevilla, Spain
    Eur J Hum Genet 24:367-72. 2016
    ..Exome sequencing showed mutations in PDHA1 in the first patient and in PDHB in the second...
  34. doi [Comparative analysis of the role of CD4(+) and CD8(+) T cells in severe asthma development]
    X Wang
    Department of Respiration Мedicine, Jinan Central Hospital affiliated to Shandong University, Jinan, Shandong Province, 250013 China
    Mol Biol (Mosk) 49:482-90. 2015
    ..One module of CD8^(+) T cells containing PDHA1 and MRPL42 was identified to be related with glycolysis...
  35. ncbi [Identification of a novel pathogenic mutation in PDHA1 gene for pyruvate dehydrogenase complex deficiency]
    Mo Ling Wu
    Department of Genetics and Endocrinology, Guangzhou Children and Women s Medical Center, Guangzhou 510623, China
    Zhongguo Dang Dai Er Ke Za Zhi 17:775-9. 2015
    ..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...
  36. ncbi Decreased Expression of PDHE1α Predicts Worse Clinical Outcome in Esophageal Squamous Cell Carcinoma
    Yali Zhong
    Department of Oncology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, P R China Department of Gastroenterology, The Second Affiliated Hospital of Zhengzhou University, Zhengzhou, P R China Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, University of Oslo, Oslo, Norway
    Anticancer Res 35:5533-8. 2015
    ..Deficiency of pyruvate dehydrogenase component α subunit (PDHE1α) leads to mitochondrial dysfunction and promotes glycolysis. Therefore, studies on the expression of PDHE1α in cancer are warranted...
  37. pmc Network of Surface-Displayed Glycolytic Enzymes in Mycoplasma pneumoniae and Their Interactions with Human Plasminogen
    Anne Gründel
    TU Dresden, Institute of Medical Microbiology and Hygiene, Dresden, Germany
    Infect Immun 84:666-76. 2015
    ..pneumoniae cells. Eight glycolytic enzymes, pyruvate dehydrogenases A to C (PdhA-C), glyceraldehyde-3-phosphate dehydrogenase (GapA), lactate dehydrogenase (Ldh), phosphoglycerate mutase (Pgm), ..
  38. doi Short communication: Amino acid supplementation and stage of lactation alter apparent utilization of nutrients by blood neutrophils from lactating dairy cows in vitro
    M Garcia
    Department of Animal and Avian Sciences, University of Maryland, College Park 20740
    J Dairy Sci 99:3777-83. 2016
    ..the expression of G6PD, coding for the enzyme glucose 6-phosphate dehydrogenase, was increased and that of PDHA1, coding for the enzyme pyruvate dehydrogenase α 1, tended to increase with AA supplementation...
  39. doi Insights into the Virulence Traits of Streptococcus mutans in Dentine Carious Lesions of Children with Early Childhood Caries
    Daniela S Bezerra
    Postgraduation Program, Faculty of Pharmacy, Dentistry and Nursing, Federal University of Cearx00E1, Fortaleza, Brazil
    Caries Res 50:279-87. 2016
    ..mutans and for analyses of the expression of S. mutans genes associated with bacterial survival (atpD, nox, pdhA) and virulence (fabM and aguD). There was no statistically significant difference in the prevalence of S...
  40. pmc Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family
    Ana Pinheiro
    Metabolism and Genetics Group, Research Institute for Medicines iMed ULisboa, Faculty of Pharmacy, Universidade de Lisboa, Portugal
    Data Brief 9:68-77. 2016
    This article presents a dataset proving the simultaneous presence of a 5'UTR-truncated PDHA1 mRNA and a full-length PDHA2 mRNA in the somatic cells of a PDC-deficient female patient and all members of her immediate family (parents and ..
  41. pmc Decreased expression of pyruvate dehydrogenase A1 predicts an unfavorable prognosis in ovarian carcinoma
    Yaqing Li
    Department of Oncology, The First Affiliated Hospital of Zhengzhou UniversityZhengzhou 450052, Henan Province, China Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, University of OsloMontebello, Oslo 0379, Norway
    Am J Cancer Res 6:2076-2087. 2016
    Pyruvate dehydrogenase A1 (PDHA1) serves as a gate-keeper enzyme link between glycolysis and the mitochondrial citric acid cycle...
  42. pmc The Effect of Selenium Supplementation on Glucose Homeostasis and the Expression of Genes Related to Glucose Metabolism
    Ewa Jablonska
    Nofer Institute of Occupational Medicine, Department of Toxicology and Carcinogenesis, Sw Teresy 8 Street, 91 348 Lodz, Poland
    Nutrients 8:. 2016
    ..plasma glucose (FPG) and significant down-regulation of seven genes: INSR, ADIPOR1, LDHA, PDHA, PDHB, MYC, and HIF1AN...
  43. ncbi Isolation and characterisation of the mouse pyruvate dehydrogenase E1 alpha genes
    J Fitzgerald
    Murdoch Institute for Research into Birth Defects, Royal Children s Hospital, Melbourne, Australia
    Biochim Biophys Acta 1131:83-90. 1992
    We have characterized two mouse genes that code for the E1 alpha subunit of pyruvate dehydrogenase (PDH), Pdha-1 and Pdha-2. The coding regions show a high degree of homology with each other and with the human PDH genes, PDAH1 and PDHA2...
  44. ncbi Pyruvate dehydrogenase E1 alpha subunit genes in the mouse: mapping and comparison with human homologs
    R M Brown
    Murdoch Institute for Research into Birth Defects, Royal Children s Hospital, Melbourne, Australia
    Somat Cell Mol Genet 16:487-92. 1990
    ..The comparative mapping results in the mouse suggest that the genetic organization and pattern of expression of the two PDH E1 alpha genes is the same in the two species...
  45. ncbi Cloning and sequence analysis of the genes encoding the dihydrolipoamide acetyltransferase and dihydrolipoamide dehydrogenase components of the pyruvate dehydrogenase multienzyme complex of Bacillus stearothermophilus
    A Borges
    Department of Biochemistry, University of Cambridge, England
    Eur J Biochem 194:95-102. 1990
    ..The cloning and sequence analysis described here complete the description of the gene cluster (pdhA, B, C and D) which encodes the B. stearothermophilus pyruvate dehydrogenase multienzyme complex.
  46. ncbi Mutagenesis studies of the phosphorylation sites of recombinant human pyruvate dehydrogenase. Site-specific regulation
    L G Korotchkina
    Department of Biochemistry, School of Medicine and Biomedical Sciences, State University of New York at Buffalo 14214, USA
    J Biol Chem 270:14297-304. 1995
    ..The rates of dephosphorylation and reactivation were similar for sites 1, 2, and 3, indicating a random dephosphorylation mechanism...
  47. ncbi An integrated genetic and man-mouse comparative map of the DXHXS674-Pdha1 region of the mouse X chromosome
    H J Blair
    MRC Mammailan Genetics Unit, Harwell, Oxon, United Kingdom
    Genomics 48:128-31. 1998
    ..order of genes and evolutionary breakpoints (EB) is defined as centromere-(EB)-(DXHXS674, DXHXS679)-Smcx-(EB)-Oa1-(EB)-Phex (3'-->5')-Pdha1-telomere. Thus Oa1 lies in a region between two previously characterized conserved segments.
  48. ncbi Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
    W Lissens
    Center for Medical Genetics, University Hospital, Vrije Universiteit Brussel, Brussels, Belgium
    Hum Mutat 15:209-19. 2000
    ..of PDH complex deficiencies result from mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1)...
  49. ncbi Symbiotic induction of pyruvate dehydrogenase genes from Sinorhizobium meliloti
    D Cabanes
    Laboratoire de Biologie Moleculaire des relations Plantes Microorganismes, CNRS INRA, Castanet Tolosan, France
    Mol Plant Microbe Interact 13:483-93. 2000
    ..No gene encoding the E3 component, lipoamide dehydrogenase, was found in the immediate vicinity of pdhA and pdhB genes. pdhAalpha, pdhAbeta and pdhB likely constitute an operon...
  50. ncbi Gene and primary structures of dye-linked L-proline dehydrogenase from the hyperthermophilic archaeon Thermococcus profundus show the presence of a novel heterotetrameric amino acid dehydrogenase complex
    Ryushi Kawakami
    Department of Biological Science and Technology, Faculty of Engineering, University of Tokushima, 2 1 Minamijosanjimacho, Tokushima 770 8506, Japan
    Extremophiles 8:99-108. 2004
    ..The gene formed an operon that consisted of four genes, pdhA, pdhB, pdhF, and pdhX, which are tandemly arranged in the order of pdhA-F-X-B...
  51. ncbi Short-term feeding of fish oil down-regulates the expression of pyruvate dehydrogenase E1 alpha subunit mRNA in mouse brain
    Yoshihito Nogusa
    Department of Bioresource Science and Technology, Graduate School of Biosphere Science, Hiroshima University, Japan
    Biosci Biotechnol Biochem 69:301-6. 2005
    ..PDHE1alpha mRNA was reduced by supplementation of DHA with a significant decrease in cellular ATP level. These results indicate that fish oil feeding might modulate energy metabolism in the brain...
  52. ncbi Pyruvate dehydrogenase E3 binding protein (protein X) deficiency
    R M Brown
    Genetics Unit, Department of Biochemistry, University of Oxford, Oxford, UK
    Dev Med Child Neurol 48:756-60. 2006
    ..majority of cases (>80%) result from mutations in the X-linked gene for the E1alpha subunit of the complex (PDHA1)...
  53. pmc Down-regulation of expression of rat pyruvate dehydrogenase E1alpha gene by self-complementary adeno-associated virus-mediated small interfering RNA delivery
    Zongchao Han
    Department of Pediatrics, Division of Cellular and Molecular Therapy, University of Florida, College of Medicine, Gainesville, FL 32610, USA
    Mitochondrion 7:253-9. 2007
    Mutations in the E1alpha subunit gene (PDHA1) of the pyruvate dehydrogenase complex (PDC) are common causes of congenital lactic acidosis...
  54. ncbi [Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study]
    Yao Zhang
    Department of Pediatrics, Peking University First Hospital, Beijing 100034, China
    Zhongguo Dang Dai Er Ke Za Zhi 9:216-9. 2007
    ..Deficiency of pyruvate dehydrogenase complex E1 alpha subunit (PDHA1) is the common cause of Leigh syndrome. In this study, one Chinese case of PDHA1 deficiency was reported...
  55. pmc Low muscle glycogen and elevated plasma free fatty acid modify but do not prevent exercise-induced PDH activation in human skeletal muscle
    Kristian Kiilerich
    Copenhagen Muscle Research Centre, University of Copenhagen, Copenhagen, Denmark
    Diabetes 59:26-32. 2010
    ..To test the hypothesis that free fatty acid (FFA) and muscle glycogen modify exercise-induced regulation of PDH (pyruvate dehydrogenase) in human skeletal muscle through regulation of PDK4 expression...
  56. doi Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency
    Curtis R Coughlin
    Section of Metabolic Disease, The Children s Hospital of Philadelphia, Philadelphia, PA, USA
    Mol Genet Metab 100:296-9. 2010
    ..Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1alpha subunit of the multienzyme complex...
  57. doi Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain
    Ester Quintana
    Sección de Errores Congénitos del Metabolismo, Servicio de Bioquímica y Genética Molecular, Hospital Clinic, Instituto de Bioquimica Clinica, Barcelona, Spain
    J Inherit Metab Dis 33:S315-9. 2010
    ..PDHc deficiency was demonstrated in muscle and fibroblasts without detectable PDHA1 mutations...
  58. doi Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency
    Ruchi Sharma
    Department of Paediatric Neurology, Sheffield Children s Hospital, Sheffield, UK
    Dev Med Child Neurol 54:469-71. 2012
    ..PDH deficiency should be considered as a differential diagnosis if PVL is unilateral and if the perinatal history is not typical of PVL...
  59. doi Pyruvate dehydrogenase complex: mRNA and protein expression patterns of E1α subunit genes in human spermatogenesis
    Ana Pinheiro
    Research Institute for Medicines and Pharmaceutical Sciences iMED UL, Faculty of Pharmacy, University of Lisbon, Portugal
    Gene 506:173-8. 2012
    ..cell energy metabolism, namely the genes encoding the E1α subunit of pyruvate dehydrogenase complex: the somatic PDHA1 (X-linked) and the testis-specific PDHA2 (autosomal)...
  60. doi Mild phenotype in a male with pyruvate dehydrogenase complex deficiency associated with novel hemizygous in-frame duplication of the E1α subunit gene (PDHA1)
    J Steller
    Division of Genetics and Metabolism, Department of Pediatrics, University of California Irvine, Orange, California, United States
    Neuropediatrics 45:56-60. 2014
    ..is an inborn error of metabolism that occurs most commonly due to mutations in the X-linked E1α subunit gene (PDHA1)...
  61. doi The E1 beta-subunit of pyruvate dehydrogenase is surface-expressed in Lactobacillus plantarum and binds fibronectin
    Valeria Vastano
    Dipartimento di Scienze e Tecnologie Ambientali, Biologiche, e Farmaceutiche, Seconda Universita di Napoli, Via Vivaldi 43, 81100 Caserta, Italy
    Microbiol Res 169:121-7. 2014
    ..Nevertheless, the pdhB null mutation did not abolish pdhA, pdhC, and pdhD transcription in LM3-B1...
  62. doi Nanosilver incurs an adaptive shunt of energy metabolism mode to glycolysis in tumor and nontumor cells
    Yue Chen
    State Key Laboratory of Environmental Chemistry and Ecotoxicology, Research Center for Eco Environmental Sciences, Chinese Academy of Sciences, Beijing 100085, China
    ACS Nano 8:5813-25. 2014
    ..Additionally, altered expression of a few energy metabolism-related genes (such as PFKFB3 and PDHA1) was also involved in the transition process...
  63. pmc Tyr-94 phosphorylation inhibits pyruvate dehydrogenase phosphatase 1 and promotes tumor growth
    Changliang Shan
    From the Department of Hematology and Medical Oncology, Winship Cancer Institute of Emory, Emory University School of Medicine, Atlanta, Georgia 30322
    J Biol Chem 289:21413-22. 2014
    ..SIRT3 and recruits acetyltransferase ACAT1 to PDC, resulting in increased inhibitory lysine acetylation of PDHA1 and PDP1...
  64. pmc Tyr-301 phosphorylation inhibits pyruvate dehydrogenase by blocking substrate binding and promotes the Warburg effect
    Jun Fan
    From the Department of Hematology and Medical Oncology, Winship Cancer Institute of Emory, Emory University School of Medicine, Atlanta, Georgia 30322
    J Biol Chem 289:26533-41. 2014
    ..Here, we report that phosphorylation of a tyrosine residue Tyr-301 also inhibits PDH α 1 (PDHA1) by blocking pyruvate binding through a novel mechanism in addition to Ser-293 phosphorylation...
  65. doi Inhibition of metastasis and growth of breast cancer by pH-sensitive poly (β-amino ester) nanoparticles co-delivering two siRNA and paclitaxel
    Shan Tang
    State Key Laboratory of Drug Research and Center of Pharmaceutics, Shanghai Institute of Materia Medica, Chinese Academy of Sciences, 501 Haike Road, Shanghai 201203, China
    Biomaterials 48:1-15. 2015
    ..two new amphiphilic polymer, polyethyleneimine-block-poly[(1,4-butanediol)-diacrylate-β-5-hydroxyamylamine] (PEI-PDHA) and polyethylene glycol-block-poly[(1,4-butanediol)-diacrylate-β-5-hydroxyamylamine] (PEG-PDHA) by self-assembly...
  66. ncbi Exclusion of three candidate genes, Grpr, Cxn33, and Pdha1, for the X-linked cataract gene on the distal region of the mouse chromosome X
    E Zhou
    Department of Ophthalmology, School of Medicine, University of Pennsylvania, Philadelphia 19104, USA
    Mamm Genome 6:357-9. 1995
  67. ncbi The locus for pyruvate dehydrogenase E1 alpha subunit (Pdha1) lies between Plp and Amg on the mouse X chromosome
    H J Blair
    Genetics Division, MRC Radiobiology Unit, Didcot, Oxon, UK
    Mamm Genome 4:230-3. 1993
  68. ncbi Detection of pyruvate dehydrogenase E1 alpha-subunit deficiencies in females by immunohistochemical demonstration of mosaicism in cultured fibroblasts
    Margarita Y Lib
    Institute of Molecular Biology, Oxford, United Kingdom
    J Histochem Cytochem 50:877-84. 2002
    ..This immunocytochemical approach, which is fast, reliable, and quantitative, will be particularly useful in identifying females with PDH E1 alpha-subunit deficiency as a precursor to mutation analysis...
  69. ncbi A pathogenic glutamate-to-aspartate substitution (D296E) in the pyruvate dehydrogenase E1 subunit gene PDHA1
    R M Brown
    Genetics Unit, Department of Biochemistry, University of Oxford, UK
    Hum Mutat 22:496-7. 2003
    ..888C>G in PDHA1, the gene for the E1alpha subunit of the complex...
  70. ncbi Pyruvate dehydrogenase deficiency presenting as dystonia in childhood
    R A Head
    Genetics Unit, Department of Biochemistry, University of Oxford, Oxford, UK
    Dev Med Child Neurol 46:710-2. 2004
    ..with pyruvate dehydrogenase (PDH) deficiency due to missense mutations in the gene for the E1alpha subunit (PDHA1) presented during childhood with dystonia...
  71. ncbi Mycoplasma gallisepticum hemagglutinin V1hA, pyruvate dehydrogenase PdhA, lactate dehydrogenase, and elongation factor Tu share epitopes with Mycoplasma imitans homologues
    Miha Lavric
    Department of Animal Science, Biotechnical Faculty, University of Ljubljana, 1230 Domzale, Slovenia
    Avian Dis 49:507-13. 2005
    ..protein recognized by MAb 9D4 strongly indicates that this protein is pyruvate dehydrogenase E1, subunit alpha (PdhA protein, also termed AcoA)...
  72. ncbi Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype
    Kazuki Okajima
    Center for Inherited Disorders of Energy Metabolism, Case Western Reserve University, Cleveland, OH 44106, USA
    Mol Genet Metab 87:162-8. 2006
    Pyruvate dehydrogenase complex (PDC) deficiency is commonly due to mutations of PDHA1 on the X chromosome...
  73. pmc Prior heavy exercise elevates pyruvate dehydrogenase activity and speeds O2 uptake kinetics during subsequent moderate-intensity exercise in healthy young adults
    B J Gurd
    Canadian Centre for Activity and Aging, School of Kinesiology, Faculty of Health Sciences, HSB 411C, The University of Western Ontario, London, Ontario, Canada N6A 5B9
    J Physiol 577:985-96. 2006
    ..In the present study we examined the activation of pyruvate dehydrogenase (PDHa) during Mod both with and without prior heavy-intensity exercise...
  74. pmc Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops
    Masato Kato
    Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, TX 75390 9038, USA
    Structure 16:1849-59. 2008
    ..This results in the disruption of the substrate channeling in the PDC, leading to the inactivation of this catalytic machine...
  75. doi Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency
    E Ostergaard
    Department of Clinical Genetics 4062, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, 2100, Denmark
    J Inherit Metab Dis 32:S235-9. 2009
    ..We report four novel PDHA1 mutations in patients with pyruvate dehydrogenase deficiency...
  76. doi Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility
    Gaia Giribaldi
    Department of Neuroscience, Ophthalmology and Genetics, Child Neuropsychiatry Unit, G Gaslini Institute, and University of Genoa, Genoa, Italy
    Dev Med Child Neurol 54:472-6. 2012
    ....
  77. doi 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
    Johannes A Mayr
    Department of Pediatrics, Paracelsus Medical University, Salzburg, Austria
    Neuropediatrics 43:130-4. 2012
    ..b>PDHA1 sequencing was normal in DNA from blood...
  78. doi Morphology effects on the biofunctionalization of nanostructured ZnO
    Yan Cao
    Department of Chemistry, Rutgers, The State University of New Jersey, Newark, New Jersey 07102, United States
    Langmuir 28:7947-51. 2012
    ..16-(2-Pyridyldithiol)-hexadecanoic acid (PDHA) was bound to ZnO films-N, -R, and -P through the carboxylic acid unit, followed by a nucleophilic displacement of ..
  79. doi Mapping an X-linked locus that influences heat-induced febrile seizures in mice
    Ellen V S Hessel
    Rudolf Magnus Institute of Neuroscience, Department of Neuroscience and Pharmacology, University Medical Center Utrecht, Utrecht, The Netherlands
    Epilepsia 53:1399-410. 2012
    ..The fact that many X-linked genes are highly expressed in the brain and have been implicated in human developmental disorders often presenting with seizures (like fragile X mental retardation) prompted us to map the chromosome X QTL...
  80. pmc Pemphigus vulgaris autoantibody profiling by proteomic technique
    Mina Kalantari-Dehaghi
    Department of Dermatology, University of California Irvine, Irvine, California, United States of America
    PLoS ONE 8:e57587. 2013
    ..CD32, CDH8, CDH9, PMP22 and HLA-E genes as well as mitochondrial proteins encoded by the NDUFS1, CYB5B, SOD2, PDHA1 and FH genes...
  81. ncbi X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation
    H H Dahl
    Murdoch Institute for Research into Birth Defects, Royal Children s Hospital, Melbourne, Australia
    J Inherit Metab Dis 15:835-47. 1992
    ..The genetic basis of the variable expression of X-linked PDH E1 alpha deficiency in heterozygous females is discussed...
  82. ncbi Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene
    H H Dahl
    Murdoch Institute for Research into Birth Defects, Royal Children s Hospital, Parkville, Melbourne, Australia
    Hum Mutat 1:97-102. 1992
    ..Most of the mutations are found in exons 10 and 11. Furthermore, four of the mutations are seen in unrelated patients. Little is known about how the mutations affect the structure or function of the pyruvate dehydrogenase complex...
  83. ncbi Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein
    M Ito
    Department of Pediatrics School of Medicine, University of Tokushima, Japan
    J Inherit Metab Dis 15:848-56. 1992
    ..The mutant alpha subunit protein failed to form a stable structure of pyruvate dehydrogenase, so that both alpha and beta subunit proteins were degraded rapidly...
  84. ncbi Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit
    L De Meirleir
    Laboratory of Medical Genetics, Vrije Universiteit Brussel VUB, Belgium
    Hum Genet 88:649-52. 1992
    ..A serine phosphorylation site regulating the activity of the PDH complex is altered by this insertion, which in all likelihood is responsible for the functional enzymatic deficiency leading to lactic acidosis...
  85. ncbi Transcriptional expression of a testis-specific variant of the mouse pyruvate dehydrogenase E1 alpha subunit
    R C Iannello
    Murdoch Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    Biol Reprod 47:48-58. 1992
    ..We conclude from these results that expression of the testis-specific E1 alpha is initially expressed during the meiotic prophase stage of spermatogenesis and not under any apparent post-transcriptional regulation...
  86. ncbi Mapping of the glycine receptor alpha 2-subunit gene and the GABAA alpha 3-subunit gene on the mouse X chromosome
    J M Derry
    MRC Molecular Neurobiology Unit, MRC Centre, Cambridge, United Kingdom
    Genomics 10:593-7. 1991
    ..of loci for hypophosphatemia (Hyp), steroid sulfatase (Sts), and the E1 alpha-subunit of pyruvate dehydrogenase (Pdha1). This establishes the XF region of the mouse X chromosome as homologous with the Xp22.1-p22...
  87. ncbi The expression pattern of the pyruvate dehydrogenase E1 alpha subunit genes during spermatogenesis in adult mouse
    F Takakubo
    Murdoch Institute for Research into Birth Defects, Royal Children s Hospital, Melbourne, Australia
    Exp Cell Res 199:39-49. 1992
    ....
  88. ncbi Cloning and sequence analysis of the genes encoding the alpha and beta subunits of the E1 component of the pyruvate dehydrogenase multienzyme complex of Bacillus stearothermophilus
    C F Hawkins
    Department of Biochemistry, University of Cambridge, England
    Eur J Biochem 191:337-46. 1990
    ..Its nucleotide sequence was determined. Open reading frames (pdhA, pdhB) corresponding to the E1 alpha subunit (368 amino acids, Mr 41,312, without the initiating methionine residue)..
  89. ncbi Characterization and nucleotide sequence of the gene encoding the human pyruvate dehydrogenase alpha-subunit
    K Koike
    Department of Pathological Biochemistry, Nagasaki University School of Medicine, Japan
    Gene 93:307-11. 1990
    ..A 93-bp sequence that was missing in our sequence of cultured foreskin fibroblast PDH alpha cDNA [Koike et al., Proc. Natl. Acad. Sci. USA 85 (1988) 41-45] was identified in the gene as exon 6...
  90. ncbi A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4
    H H Dahl
    Murdoch Institute for Research into Birth Defects, Royal Children s Hospital, Melbourne, Australia
    Genomics 8:225-32. 1990
    ..1 of the human X chromosome. This gene, PDHA1, contains 10 introns and spans approximately 17 kb...
  91. ncbi Mutation of the E1 alpha subunit of the pyruvate dehydrogenase complex, in relation to heterogeneity
    A Kitano
    Department of Pediatrics, Kumamoto University Medical School, Japan
    J Inherit Metab Dis 12:97-107. 1989
    ..Thus, the severity of E1 alpha deficiency in these three patients is likely to depend on the type of mutation in the pyruvate dehydrogenase E1 alpha subunit and the synthesis and degradation rate of the subunit...
  92. ncbi X-chromosome localization of the functional gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex
    R M Brown
    Murdoch Institute for Research into Birth Defects, Royal Children s Hospital, Melbourne, Australia
    Genomics 4:174-81. 1989
    ....
  93. ncbi Structural organization of the gene for the E1 alpha subunit of the human pyruvate dehydrogenase complex
    C Maragos
    Murdoch Institute for Research into Birth Defects, Royal Children s Hospital, Melbourne, Australia
    J Biol Chem 264:12294-8. 1989
    ..Also upstream from the cap site are several sets of inverted repeats, direct repeats, several sequences resembling the transcription factor Sp1 binding site, a glucocorticoid-responsive element, and two cAMP receptor binding sites...
  94. pmc Characterization of cDNAs encoding human pyruvate dehydrogenase alpha subunit
    L Ho
    Department of Biochemistry, Case Western Reserve University School of Medicine, Cleveland, OH 44106
    Proc Natl Acad Sci U S A 86:5330-4. 1989
    ....
  95. ncbi Isolation of a full-length complementary DNA coding for human E1 alpha subunit of the pyruvate dehydrogenase complex
    L De Meirleir
    Department of Pediatrics and Biochemistry, University of Toronto, Ontario, Canada
    J Biol Chem 263:1991-5. 1988
    ..This cDNA clone hybridizes with a 1.8-kilobase mRNA on a Northern blot analysis of human fibroblasts, and a second minor band of 4.4 kilobases is also detected...
  96. ncbi The effect of diet composition on weight gain and pyruvate dehydrogenase activity in heart muscle in the gold thioglucose obese mouse
    K Steinbeck
    Department of Endocrinology, Royal Prince Alfred Hospital, Sydney, NSW, Australia
    Int J Obes 11:507-18. 1987
    ..chow, high-carbohydrate, high-protein and high-fat) on weight gain, cardiac pyruvate dehydrogenase activity (PDHa) and serum insulin, glucose and free fatty acids was studied in the gold thioglucose obese mouse...
  97. pmc Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase
    K Koike
    Department of Pathological Biochemistry, Nagasaki University School of Medicine, Japan
    Proc Natl Acad Sci U S A 85:41-5. 1988
    ..8 kb for PDH alpha and 1.7 kb for PDH beta, respectively. The precursor proteins of PDH alpha and PDH beta were detected by immunoprecipitation from an 35S-labeled cell-free translation system...
  98. ncbi Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit
    S G Hemalatha
    Department of Biochemistry, Case Western Reserve University School of Medicine, Cleveland, OH 44106, USA
    Hum Mol Genet 4:315-8. 1995
  99. ncbi Characterization of a point mutation in the pyruvate dehydrogenase E1 alpha gene from two boys with primary lactic acidaemia
    H Awata
    Department of Pediatrics, Kumamoto University Medical School, Japan
    J Inherit Metab Dis 17:189-95. 1994
    ..Derangement in the regulation of activity of the PDH complex may explain the primary lactic acidaemia in the patients...

Research Grants2

  1. Pyruvate Dehydrogenase E1: Structure-Function Studies
    William F Furey; Fiscal Year: 2012
    ..pathological consequences: for example, beri-beri, maple syrup urine disease, Pyruvate Dehydrogenase Deficiency (PDHA) associated lactic acidosis, microcephaly, motor neuropathy, Leigh syndrome, and neurological diseases including ..
  2. A new class of biodegradable synthetic biomaterial for seroma prevention
    Michael Craven; Fiscal Year: 2012
    ..consisting of a methoxy polyethylene glycol (MPEG) block and a block of the polycarbonate form of dihidroxyacetone (pDHA), has shown efficacy in preventing seroma formation...