glucose 6 phosphatase

Summary

Gene Symbol: glucose 6 phosphatase
Description: glucose-6-phosphatase, catalytic subunit
Alias: G6PC1, G6PT, GSD1, GSD1a, G-6-Pase, G6Pase, G6Pase-alpha, glucose-6-phosphatase, glucose-6-phosphatase alpha
Species: human

Top Publications

  1. doi Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus
    Emily Tu
    Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, NSW, 2042 Australia
    Hum Pathol 41:392-400. 2010
  2. pmc Antagonistic effects of phorbol esters on insulin regulation of insulin-like growth factor-binding protein-1 (IGFBP-1) but not glucose-6-phosphatase gene expression
    S Patel
    Division of Cell Signalling, School of Life Sciences, WTB MSI Complex, University of Dundee, Dundee DD1 5EH, UK
    Biochem J 359:611-9. 2001
  3. ncbi The molecular basis of type 1 glycogen storage diseases
    J Y Chou
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Mol Med 1:25-44. 2001
  4. ncbi Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex
    Janice Yang Chou
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Mol Med 2:121-43. 2002
  5. ncbi Hepatocyte transplantation for glycogen storage disease type Ib
    Kwang Woong Lee
    Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Cell Transplant 16:629-37. 2007
  6. pmc Evidence for transcriptional regulation of the glucose-6-phosphate transporter by HIF-1alpha: Targeting G6PT with mumbaistatin analogs in hypoxic mesenchymal stromal cells
    Simon Lord-Dufour
    Departement de Chimie, Centre BIOMED, Universite du Quebec a Montreal, Canada
    Stem Cells 27:489-97. 2009
  7. ncbi Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    J Pediatr 150:300-5, 305.e1. 2007
  8. pmc Gene therapy for type I glycogen storage diseases
    Janice Y Chou
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Gene Ther 7:79-88. 2007
  9. ncbi Historical highlights and unsolved problems in glycogen storage disease type 1
    Shimon W Moses
    Department of Paediatrics, Soroka Medical Centre, POB 151, Beersheva 84101, Israel
    Eur J Pediatr 161:S2-9. 2002
  10. ncbi Disturbed lipid metabolism in glycogen storage disease type 1
    Robert H J Bandsma
    Centre for Liver, Digestive and Metabolic Diseases, Room Y2117, CMCIV, University Hospital Groningen, Hanzeplein 1, PO Box 30001, 9700 RB Groningen The Netherlands
    Eur J Pediatr 161:S65-9. 2002

Research Grants

  1. STRUCTURAL STUDIES OF SUGAR TRANSPORTERS
    Da Neng Wang; Fiscal Year: 2007
  2. STRUCTURAL STUDIES OF SUGAR TRANSPORTERS
    Da Neng Wang; Fiscal Year: 2007
  3. STRUCTURAL STUDIES OF SUGAR TRANSPORTERS
    Da Neng Wang; Fiscal Year: 2010
  4. Hepcidin Expression in the Anemia of Chronic Disease
    David Weinstein; Fiscal Year: 2007
  5. Pathogenesis/Treatment-Inherited Cholesterol Deficiency
    CEDRIC HOWARD SHACKLETON; Fiscal Year: 2010
  6. Pathogenesis and Treatment of Inherited Cholesterol Deficiency
    Cedric Shackleton; Fiscal Year: 2007
  7. Neurosteroids and Smith-Lemli-Optiz Syndrome
    Cedric Shackleton; Fiscal Year: 2005
  8. Gas chromatograph-mass spectrometer with EI and CI
    Cedric Shackleton; Fiscal Year: 2003
  9. SMITH-LEMLI-OPITZ SYNDROME STEROIDOGENESIS
    Cedric Shackleton; Fiscal Year: 2002

Scientific Experts

Detail Information

Publications148 found, 100 shown here

  1. doi Post-mortem pathologic and genetic studies in "dead in bed syndrome" cases in type 1 diabetes mellitus
    Emily Tu
    Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, NSW, 2042 Australia
    Hum Pathol 41:392-400. 2010
    ..Understanding the causes and triggers of dead in bed syndrome will be critical in facilitating the identification of patients with type 1 diabetes at highest risk of developing sudden death...
  2. pmc Antagonistic effects of phorbol esters on insulin regulation of insulin-like growth factor-binding protein-1 (IGFBP-1) but not glucose-6-phosphatase gene expression
    S Patel
    Division of Cell Signalling, School of Life Sciences, WTB MSI Complex, University of Dundee, Dundee DD1 5EH, UK
    Biochem J 359:611-9. 2001
    Glucose-6-phosphatase (G6Pase) and insulin-like growth factor-binding protein-1 (IGFBP-1) genes contain a homologous promoter sequence that is required for gene repression by insulin...
  3. ncbi The molecular basis of type 1 glycogen storage diseases
    J Y Chou
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Mol Med 1:25-44. 2001
    ..of autosomal recessive metabolic disorders caused by deficiencies in the activity of the glucose-6-phosphatase (G6Pase) system that consists of at least two membrane proteins, glucose-6-phosphate transporter (G6PT) and G6Pase...
  4. ncbi Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex
    Janice Yang Chou
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Mol Med 2:121-43. 2002
    ..The two major subtypes are GSD-Ia (MIM232200), caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib (MIM232220), caused by a deficiency in the glucose-6-phosphate transporter (G6PT)...
  5. ncbi Hepatocyte transplantation for glycogen storage disease type Ib
    Kwang Woong Lee
    Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Cell Transplant 16:629-37. 2007
    ..The two major subtypes are GSD-Ia, caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib, caused by a deficiency of glucose-6-phosphate transporter (G6PT)...
  6. pmc Evidence for transcriptional regulation of the glucose-6-phosphate transporter by HIF-1alpha: Targeting G6PT with mumbaistatin analogs in hypoxic mesenchymal stromal cells
    Simon Lord-Dufour
    Departement de Chimie, Centre BIOMED, Universite du Quebec a Montreal, Canada
    Stem Cells 27:489-97. 2009
    ..Given that MSCs can survive hypoxia and that the glucose-6-phosphate transporter (G6PT) provides metabolic control that contributes to MSC mobilization and survival, we investigated the effects of low ..
  7. ncbi Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    J Pediatr 150:300-5, 305.e1. 2007
    To investigate the hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type 1(GSD1).
  8. pmc Gene therapy for type I glycogen storage diseases
    Janice Y Chou
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Gene Ther 7:79-88. 2007
    ..diseases (GSD-I) are a group of related diseases caused by a deficiency in the glucose-6-phosphatase-alpha (G6Pase-alpha) system, a key enzyme complex that is essential for the maintenance of blood glucose homeostasis between ..
  9. ncbi Historical highlights and unsolved problems in glycogen storage disease type 1
    Shimon W Moses
    Department of Paediatrics, Soroka Medical Centre, POB 151, Beersheva 84101, Israel
    Eur J Pediatr 161:S2-9. 2002
    ..the first patient with glycogen storage disease type 1 (GSD1) in 1929, the Coris detected glucose-6-phosphatase (G6Pase) deficiency...
  10. ncbi Disturbed lipid metabolism in glycogen storage disease type 1
    Robert H J Bandsma
    Centre for Liver, Digestive and Metabolic Diseases, Room Y2117, CMCIV, University Hospital Groningen, Hanzeplein 1, PO Box 30001, 9700 RB Groningen The Netherlands
    Eur J Pediatr 161:S65-9. 2002
    ..Evidence indicates that lipid clearance from the blood compartment is decreased in GSD1. Furthermore, in two GSD1a patients synthesis of palmitate, an indicator of de novo lipogenesis, and cholesterol were found to be increased ..
  11. ncbi Glucose-6-phosphatase gene (727G-->T) splicing mutation is prevalent in Hong Kong Chinese patients with glycogen storage disease type 1a
    C W Lam
    Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Sha Tin
    Clin Genet 53:184-90. 1998
    ..type la (GSD1a) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase). We analyzed the G6Pase genes of two unrelated Chinese families with GSD1a...
  12. pmc Sequence variation between the mouse and human glucose-6-phosphatase catalytic subunit gene promoters results in differential activation by peroxisome proliferator activated receptor gamma coactivator-1alpha
    M M Schilling
    Department of Molecular Physiology and Biophysics, Vanderbilt University Medical School, 8415 MRB IV, 2213 Garland Ave, Nashville, TN 37232 0615, USA
    Diabetologia 51:1505-14. 2008
    ..The aim of this study was to compare the regulation of mouse G6pc and human G6PC gene expression by PGC-1alpha...
  13. doi Increased expression and activity of the transcription factor FOXO1 in nonalcoholic steatohepatitis
    Luca Valenti
    Department of Internal Medicine, Ospedale Maggiore Policlinico Mangiagalli Regina Elena IRCCS Istituto di Ricovero e Cura a Carattere Scientifico, University of Milan, Milan, Italy
    Diabetes 57:1355-62. 2008
    ....
  14. ncbi Structure and promoter activity of an islet-specific glucose-6-phosphatase catalytic subunit-related gene
    D H Ebert
    Department of Molecular Physiology and Biophysics, Vanderbilt University Medical School, Nashville, Tennessee 37232 0615, USA
    Diabetes 48:543-51. 1999
    ..The IGRP and G-6-Pase catalytic subunit gene promoters show a reciprocal pattern of activity, with the IGRP promoter being approximately 150-fold more active than the G-6-Pase promoter in HIT cells...
  15. doi Metformin suppresses glucose-6-phosphatase expression by a complex I inhibition and AMPK activation-independent mechanism
    Shinichi Ota
    Dainippon Sumitomo Pharma Co, Ltd, 3 1 98 Kasugade naka, Konohana, Osaka 554 0022, Japan
    Biochem Biophys Res Commun 388:311-6. 2009
    ....
  16. pmc Glucose-6-phosphatase catalytic subunit gene family
    John C Hutton
    Barbara Davis Center for Childhood Diabetes, University of Colorado at Denver, Aurora, Colorado 80045, USA
    J Biol Chem 284:29241-5. 2009
    ..This minireview discusses the disease association and transcriptional regulation of the G6PC genes as well as the biological functions of the encoded proteins...
  17. ncbi The biochemistry and molecular biology of the glucose-6-phosphatase system
    James D Foster
    Department of Biochemistry and Molecular Biology, University of North Dakota School of Medicine and Health Sciences, Grand Forks, North Dakota 58203, USA
    Exp Biol Med (Maywood) 227:601-8. 2002
    Progress has continued to be made over the past 4 years in our understanding of the glucose-6-phosphatase (G6Pase) system...
  18. pmc Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta
    Yuk Yin Cheung
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development NICHD, NIH, Bethesda, Maryland 20892, USA
    J Clin Invest 117:784-93. 2007
    ..Previous views held that there was a single ER enzyme, glucose-6-phosphatase-alpha (G6Pase-alpha), whose activity--limited to the liver, kidney, and intestine--was solely responsible for the final stages ..
  19. ncbi MT1-MMP down-regulates the glucose 6-phosphate transporter expression in marrow stromal cells: a molecular link between pro-MMP-2 activation, chemotaxis, and cell survival
    Jean Christophe Currie
    Laboratoire d Oncologie Moleculaire, Departement de Chimie, Centre BIOMED, Universite du Quebec a Montreal, Quebec H3C 3P8, Canada
    J Biol Chem 282:8142-9. 2007
    ..chemotaxis was recently observed in bone marrow cells isolated from a glucose 6-phosphate transporter-deficient (G6PT-/-) mouse model, we sought to investigate the potential MT1-MMP/G6PT signaling axis in BMSC...
  20. ncbi Linkage disequilibrium and linkage analysis of the glucose-6-phosphatase gene
    L J Wong
    Molecular Diagnostic Laboratory, Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA
    Hum Genet 103:199-203. 1998
    ..have indicated that the four most common mutations account for 78% of mutant alleles in the glucose-6-phosphatase (G6Pase) gene. A significant fraction of mutant alleles remain unidentified...
  21. ncbi Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter
    Li Yuan Chen
    Section on Cellular Differentiation, Heritable Disorders Branch, Natioanl Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Hum Mol Genet 12:2547-58. 2003
    Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT)...
  22. doi The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic
    Shih Yin Chen
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    FASEB J 22:2206-13. 2008
    ..Glucose-6-phosphatase-alpha (G6Pase-alpha), which facilitates microsomal G6P uptake by G6PT, fails to stimulate G6P uptake in P(i)-loaded G6PT-..
  23. ncbi Homology modeling of the human microsomal glucose 6-phosphate transporter explains the mutations that cause the glycogen storage disease type Ib
    Jonas Almqvist
    Department of Structural Chemistry, Arrhenius Laboratory, Stockholm University, S 104 05 Stockholm, Sweden
    Biochemistry 43:9289-97. 2004
    Glycogen storage disease type Ib is caused by mutations in the glucose 6-phosphate transporter (G6PT) in the endoplasmic reticulum membrane in liver and kidney...
  24. ncbi Characterization of hepatic and brain metabolism in young adults with glycogen storage disease type 1: a magnetic resonance spectroscopy study
    D Weghuber
    Division of Endocrinology and Metabolism, Department of Internal Medicine III, Medical University of Vienna, Wahringer Gurtel 18 20, A 1090, Vienna, Austria
    Am J Physiol Endocrinol Metab 293:E1378-84. 2007
    In glycogen storage disease type 1 (GSD1), children present with severe hypoglycemia, whereas the propensity for hypoglycemia may decrease with age in these patients...
  25. ncbi Efficacy of ACE-inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study
    D Melis
    Dipartimento di Pediatria, Universita Federico II, Napoli, Italy
    Clin Endocrinol (Oxf) 63:19-25. 2005
    The efficacy of ACE-inhibitors in decreasing microalbuminuria and proteinuria has been reported in a few patients with glycogen storage disease type 1 (GSD1); however, no case-control study has ever been published.
  26. pmc Neutropenia in type Ib glycogen storage disease
    Janice Y Chou
    aProgram on Developmental Endocrinology and Genetics, Section on Cellular Differentiation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Curr Opin Hematol 17:36-42. 2010
    ..in which it is hydrolyzed to glucose either by a liver/kidney/intestine-restricted glucose-6-phosphatase-alpha (G6Pase-alpha) or by a ubiquitously expressed G6Pase-beta...
  27. pmc Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib mice
    Wai Han Yiu
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, Bethesda, MD 20892 1830, USA
    J Hepatol 51:909-17. 2009
    Glycogen storage disease type Ib (GSD-Ib) patients deficient in a glucose-6-phosphate transporter (G6PT) manifest disturbed glucose homeostasis, myeloid dysfunctions, and hepatocellular adenoma (HCA)...
  28. doi Molecular analysis of glycogen storage disease type Ib in Sardinian population: evidence for a founder effect
    Antonietta Zappu
    Dipartimento di Scienze Biomediche e Biotecnologie, USC, Cagliari, Italy
    Genet Test Mol Biomarkers 14:399-403. 2010
    We describe epidemiological, genetic, and clinical data of the 1124-2del mutation in the G6PT gene, detected in homozygosity in three glycogen storage disease type Ib patients of Sardinian origin...
  29. pmc Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib
    Shih Yin Chen
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room 9D42, NIH 10 Center Drive, Bethesda, MD 20892 1830, USA
    Mol Genet Metab 95:220-3. 2008
    The glucose-6-phosphate transporter (G6PT) deficient in glycogen storage disease type Ib is a phosphate (P(i))-linked antiporter capable of G6P: P(i) and P(i):P(i) exchanges...
  30. ncbi Comparison of gene expression changes induced by biguanides in db/db mice liver
    Masayuki Heishi
    Drug Research Division, Dainippon Sumitomo Pharma Co, Ltd, Osaka
    J Toxicol Sci 33:339-47. 2008
    ..These findings provide a novel insight into the cause of the relatively high occurrence of serious adverse effect after phenformin treatment...
  31. pmc Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice
    W H Yiu
    Heritable Disorders Branch, Section on Cellular Differentiation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Gene Ther 14:219-26. 2007
    Glycogen storage disease type Ib (GSD-Ib) is caused by a deficiency in the glucose-6-phosphate transporter (G6PT), an endoplasmic reticulum-associated transmembrane protein that is ubiquitously expressed...
  32. doi The growth hormone-insulin-like growth factor axis in glycogen storage disease type 1: evidence of different growth patterns and insulin-like growth factor levels in patients with glycogen storage disease type 1a and 1b
    Daniela Melis
    Department of Pediatrics, Federico II University, Naples, Italy
    J Pediatr 156:663-70.e1. 2010
    To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage disease type 1 (GSD1).
  33. pmc Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib
    So Youn Kim
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Blood 111:5704-11. 2008
    ..G6P) transporter (G6PT) that works with a liver/kidney/intestine-restricted glucose-6-phosphatase-alpha (G6Pase-alpha) to maintain glucose homeostasis between meals...
  34. pmc Necrosis induction in glioblastoma cells reveals a new "bioswitch" function for the MT1-MMP/G6PT signaling axis in proMMP-2 activation versus cell death decision
    Anissa Belkaid
    Laboratoire d Oncologie Moleculaire, Departement de Chimie, Centre BIOMED, Universite du Quebec a Montreal, Quebec, Canada
    Neoplasia 9:332-40. 2007
    ..Given evidence that the ER-embedded glucose-6-phosphate transporter (G6PT) regulates glioblastoma cell survival and that MT1-MMP is a key enzyme in the cancer cell invasive phenotype, we ..
  35. pmc Genetics of the synthesis of serine from glycine and the utilization of glycine as sole nitrogen source by Saccharomyces cerevisiae
    D A Sinclair
    School of Biochemistry and Molecular Genetics, University of New South Wales, Australia
    Genetics 140:1213-22. 1995
    ..The mutants fell into six complementation groups (gsd1-6 for defects in conversion of glycine to serine)...
  36. ncbi Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients
    R Santer
    Dept of Pediatrics, University Children s Hospital, Kiel, Germany
    Hum Mutat 16:177. 2000
    We investigated the molecular basis of glycogen storage disease type 1 non-A (GSD1 non-A) in 21patients. In addition to 8 novel mutations within the G6PT1 gene (c.250T>A, c.580G>A, c.627C>T, c.653-4delAG, c. 844C>A, c...
  37. doi Silencing of the MT1-MMP/ G6PT axis suppresses calcium mobilization by sphingosine-1-phosphate in glioblastoma cells
    Simon Fortier
    Laboratoire d Oncologie Moleculaire, Departement de Chimie, Centre BIOMED, Universite du Quebec a Montreal, Succ Centre Ville, Montreal, Quebec, Canada
    FEBS Lett 582:799-804. 2008
    The contributions of membrane type-1 matrix metalloproteinase (MT1-MMP) and of the glucose-6-phosphate transporter (G6PT) in sphingosine-1-phosphate (S1P)-mediated Ca(2+) mobilization were assessed in glioblastoma cells...
  38. ncbi Molecular genetics of type 1 glycogen storage disease
    A R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    Mol Genet Metab 73:117-25. 2001
    ..Of the two known transmembrane proteins of the system, malfunction of the catalytic subunit (G6Pase) characterizes GSD 1a...
  39. ncbi Avian influenza virus infection induces differential expression of genes in chicken kidney
    Wanpo Zhang
    College of Veterinary Medicine, Huazhong Agricultural University, Wuhan 430070, People s Republic of China
    Res Vet Sci 84:374-81. 2008
    ..Therefore, our findings may provide new insights into understanding the molecular mechanism underlying the pathophysiological process of HPAIV infection in chicken...
  40. pmc Inducible nitric oxide synthase induction underlies lipid-induced hepatic insulin resistance in mice: potential role of tyrosine nitration of insulin signaling proteins
    Alexandre Charbonneau
    Axe Cardiologie, Centre de Recherche de l Institut Universitaire de Cardiologie et de Pneumologie de Quebec, Quebec, Canada
    Diabetes 59:861-71. 2010
    ..The present study was undertaken to assess the contribution of inducible nitric oxide (NO) synthase (iNOS) to lipid-induced insulin resistance in vivo...
  41. doi An adult male patient with multiple adenomas and a hepatocellular carcinoma: mild glycogen storage disease type Ia
    David Cassiman
    Department of Hepatology, University Hospital Gasthuisberg, Leuven, Belgium
    J Hepatol 53:213-7. 2010
    ....
  42. doi In vitro differentiation of unrestricted somatic stem cells into functional hepatic-like cells displaying a hepatocyte-like glucose metabolism
    Simon Waclawczyk
    Institute for Transplantation Diagnostics and Cell Therapeutics, Heinrich Heine University Medical Center, Dusseldorf, Germany
    J Cell Physiol 225:545-54. 2010
    ..In conclusion, the results of the present study indicate that USSC represent a stem cell source with a substantial hepatic differentiation capacity which hold the potential for clinical applications...
  43. doi Diet-induced obesity is associated with hyperleptinemia, hyperinsulinemia, hepatic steatosis, and glomerulopathy in C57Bl/6J mice
    Undi Hoffler
    Laboratory of Pharmacology, National Institutes of Health, National Institute of Environmental Health Sciences, Research Triangle Park, NC, 27709, USA
    Endocrine 36:311-25. 2009
    ....
  44. ncbi Detection of single nucleotide substitution by competitive allele-specific short oligonucleotide hybridization (CASSOH) with immunochromatographic strip
    Yoichi Matsubara
    Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan
    Hum Mutat 22:166-72. 2003
    ..The result is obtained within 10 min after PCR. This rapid and simple method of SNP detection may be used for point-of-care genetic diagnosis with potentially diverse clinical applications. Hum Mutat 22:166-172, 2003...
  45. pmc COH-SR4 Reduces Body Weight, Improves Glycemic Control and Prevents Hepatic Steatosis in High Fat Diet-Induced Obese Mice
    James Lester Figarola
    Departments of Diabetes and Metabolic Diseases Research, Beckman Research Institute, City of Hope National Medical Center, Duarte, California, United States of America
    PLoS ONE 8:e83801. 2013
    ..Together, these data suggest that SR4, a novel AMPK activator, may be a promising therapeutic compound for treatment of obesity, fatty liver disease, and related metabolic disorders. ..
  46. ncbi [Unsuccessful management for renal failure induced by glycogen storage disease type-I (Von Gierke disease) in peritoneal dialysis]
    Taiga Hara
    Division of Nephrology and Dialysis, Department of Cardiorenal and Cerebrovascular Medicine, Faculty of Medicine, Kagawa University, Kagawa
    Nihon Naika Gakkai Zasshi 96:775-7. 2007
  47. pmc FoxO1 deacetylation regulates thyroid hormone-induced transcription of key hepatic gluconeogenic genes
    Brijesh Kumar Singh
    From the Laboratory of Hormonal Regulation, Cardiovascular and Metabolic Disorders Program, Duke NUS Graduate Medical School, Singapore 169857
    J Biol Chem 288:30365-72. 2013
    ..In summary, our results show that TH-dependent deacetylation of a second metabolically regulated transcription factor represents a novel mechanism for transcriptional integration of nuclear hormone action with cellular energy status. ..
  48. ncbi Mutation spectrum of the glucose-6-phosphatase gene and its implication in molecular diagnosis of Korean patients with glycogen storage disease type Ia
    C S Ki
    Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
    Clin Genet 65:487-9. 2004
    ..recessive inherited metabolic disorder resulting from a deficiency of the microsomal glucose-6-phosphatase (G6Pase), the enzyme that catalyzes the terminal step in gluconeogenesis and glycogenolysis...
  49. doi Modulatory effects of yerba maté (Ilex paraguariensis) on the PI3K-AKT signaling pathway
    Demétrius Paiva Arçari
    Unidade Integrada de Farmacologia e Gastroenterologia, Universidade São Francisco, Braganca Paulista, Sao Paulo, Brazil Programa de Pós Graduação em Genética e Biologia Molecular, UNICAMP, Campinas, Sao Paulo, Brazil
    Mol Nutr Food Res 57:1882-5. 2013
    ..The results obtained demonstrate for the first time the specific action of yerba maté on the PI3K-AKT pathway, which contributed to the observed improvement in hepatic insulin signaling. ..
  50. ncbi [Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa]
    Yan Wang
    The Center of Clinical Genetics, Affiliated Bayi Children s Hospital, General Hospital of Beijing Command of the People s Liberation Army, Beijing 100700, China
    Zhongguo Dang Dai Er Ke Za Zhi 14:856-8. 2012
    ..To investigate the mutation of glucose-6-phosphatase gene (G6PC gene) in a patient with glycogen storage disease Ⅰa...
  51. pmc Glucotoxicity induces glucose-6-phosphatase catalytic unit expression by acting on the interaction of HIF-1α with CREB-binding protein
    Amandine Gautier-Stein
    Institut National de la Sante et de la Recherche Medicale, U855, Lyon, France
    Diabetes 61:2451-60. 2012
    The activation of glucose-6-phosphatase (G6Pase), a key enzyme of endogenous glucose production, is correlated with type 2 diabetes. Type 2 diabetes is characterized by sustained hyperglycemia leading to glucotoxicity...
  52. pmc Decreased serum glucose and glycosylated hemoglobin levels in patients with Chuvash polycythemia: a role for HIF in glucose metabolism
    Donald A McClain
    Department of Internal Medicine, University of Utah and VA Medical Center, Salt Lake City, UT, USA
    J Mol Med (Berl) 91:59-67. 2013
    ..Further study is needed to determine whether pharmacologically manipulating HIF expression might be beneficial for treatment of diabetic patients...
  53. doi High-carbohydrate diets induce hepatic insulin resistance to protect the liver from substrate overload
    Loranne Agius
    Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
    Biochem Pharmacol 85:306-12. 2013
    ..Pharmacological targeting of the glucokinase-GCKR interaction can favour either glucose clearance by the liver or intrahepatic metabolite homeostasis...
  54. pmc MicroRNA 33 regulates glucose metabolism
    Cristina M Ramírez
    Department of Medicine, Leon H Charney Division of Cardiology and Marc and Ruti Bell Vascular Biology and Disease Program, New York University School of Medicine, New York, New York, USA
    Mol Cell Biol 33:2891-902. 2013
    ....
  55. doi Disrupted daily light-dark cycle induces the expression of hepatic gluconeogenic regulatory genes and hyperglycemia with glucose intolerance in mice
    Katsutaka Oishi
    Biological Clock Research Group, Biomedical Research Institute, National Institute of Advanced Industrial Science and Technology AIST, Tsukuba, Ibaraki, Japan
    Biochem Biophys Res Commun 432:111-5. 2013
    ..Our findings provide a link between metabolic disorders and environmental photoperiodic cycles in genetically normal animals...
  56. pmc Stat3-mediated activation of microRNA-23a suppresses gluconeogenesis in hepatocellular carcinoma by down-regulating glucose-6-phosphatase and peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
    Bo Wang
    Department of Molecular and Cellular Biochemistry, College of Medicine, Ohio State University, Columbus, OH 43210, USA
    Hepatology 56:186-97. 2012
    ..G6PC expression also correlated with tumor grade in human primary HCCs. Finally, this study showed that the activation of interleukin (IL)-6-Stat3 signaling caused the up-regulation of miR-23a expression in HCC...
  57. doi Fructose 2,6-bisphosphate is essential for glucose-regulated gene transcription of glucose-6-phosphatase and other ChREBP target genes in hepatocytes
    Catherine Arden
    Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne NE2 4HH, UK
    Biochem J 443:111-23. 2012
    ....
  58. pmc G6PT-H6PDH-11βHSD1 triad in the liver and its implication in the pathomechanism of the metabolic syndrome
    Ibolya Czegle
    Ibolya Czegle, István Karádi, 3rd Department of Internal Medicine, Semmelweis University, 1125 Budapest, Hungary
    World J Hepatol 4:129-38. 2012
    ..This review summarizes the available data on the role of the hepatic triad and its role in the metabolic syndrome, by confronting experimental findings with clinical observations...
  59. doi [Comparison of gene expression between naturally occurring and diet-induced T2DM in cynomolgus monkeys]
    Fang Ji
    Guangdong Entomological Institute, Guangzhou, China
    Dongwuxue Yanjiu 33:79-84. 2012
    ..The characteristic gene expression pattern obtained here may be useful for the clinical diagnosis of T2DM...
  60. doi Cell death and stress signaling in glycogen storage disease type I
    So Youn Kim
    Center for Cell Signaling and Drug Discovery Research, Ewha Womans University, Seoul, Korea
    Mol Cells 28:139-48. 2009
    ..kind of human genetic disorders and is caused by the deficiency of a microsomal protein, glucose-6-phosphatase-α (G6Pase-α) or glucose-6-phosphate transporter (G6PT) responsible for glucose homeostasis, leading to GSD-Ia or GSD-Ib, ..
  61. ncbi Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab
    R Parvari
    Genetic Institute, Soroka Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
    J Inherit Metab Dis 18:21-7. 1995
    ..We report on the missense mutation C-->T at nucleotide 326 of the G6Pase gene, causing the change of the Arg codon at position 83 into a Cys codon, as the single mutation detected in six ..
  62. ncbi Glucose-6-phosphatase gene G327A mutation is common in Chinese patients with glycogen storage disease type Ia
    W L Hwu
    Department of Medical Genetics, National Taiwan University Hospital, Taipei, ROC
    Hum Mol Genet 4:1095-6. 1995
  63. pmc Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan
    S Kajihara
    Department of Internal Medicine, Saga Medical School, Japan
    Am J Hum Genet 57:549-55. 1995
    ..Gierke disease) is an autosomal recessive disorder caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase). We have identified a novel mutation in the G6Pase gene of a individual with GSD type 1a...
  64. pmc Generation of mice with a conditional allele for G6pc
    Wen Tao Peng
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA
    Genesis 47:590-4. 2009
    Glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC) catalyzes the hydrolysis of glucose-6-phosphate to glucose and is a key enzyme in interprandial glucose homeostasis...
  65. pmc Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus
    K J Lei
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 57:766-71. 1995
    ..storage disease (GSD) type 1a currently is established by demonstrating the lack of glucose-6-phosphatase (G6Pase) activity in the patient's biopsied liver specimen...
  66. pmc Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a
    K J Lei
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Clin Invest 93:1994-9. 1994
    ..is an autosomal recessive inborn error of metabolism caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis...
  67. ncbi Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a
    K J Lei
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892
    Science 262:580-3. 1993
    Glycogen storage disease (GSD) type 1a is caused by the deficiency of D-glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis...
  68. pmc Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib
    Chi Jiunn Pan
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, NIH, 10 Center Drive, Bethesda, MD 20892 1830, USA
    Mol Genet Metab 96:32-7. 2009
    Glycogen storage disease type Ib is caused by deficiencies in the glucose-6-phosphate transporter (G6PT), a phosphate (P(i))-linked antiporter capable of homologous (P(i):P(i)) and heterologous (G6P:P(i)) exchanges similar to the ..
  69. ncbi Cloning and sequencing of the 5' region of the human glucose-6-phosphatase gene: transcriptional regulation by cAMP, insulin and glucocorticoids in H4IIE hepatoma cells
    D Schmoll
    Department of Obstetrics and Gynaecology, Ninewells Hospital and Medical School, University of Dundee, UK
    FEBS Lett 383:63-6. 1996
    ..Dexamethasone increased and insulin decreased luciferase activity. Insulin and dibutyryl cyclic AMP both significantly decreased activity in the presence of dexamethasone...
  70. doi The corticosteroid metabolic profile of the mouse
    C H L Shackleton
    Institute of Biomedical Research, Division of Medical Sciences, University of Birmingham, Birmingham B15 2TT, UK
    Steroids 73:1066-76. 2008
    ..of 11beta-hydroxysteroid dehydrogenase (11beta-HSD) activity in mice with deleted glucose-6-phosphate transporter (G6PT)...
  71. doi Hepatic anaplerotic outflow fluxes are redirected from gluconeogenesis to lactate synthesis in patients with Type 1a glycogen storage disease
    John G Jones
    NMR Research Unit, Department of Biochemistry and Center for Neurosciences and Cell Biology, Faculty of Sciences and Technology, University of Coimbra, 3001 401 Coimbra, Portugal
    Metab Eng 11:155-62. 2009
    ..0) were evaluated with [U-(13)C]glycerol tracer in 5 fed healthy controls and 5 Type 1a glycogen storage disease (GSD1a) patients...
  72. ncbi Genetic analysis of the glucose-6-phosphatase mutation of type 1a glycogen storage disease in a Chinese family
    W J Lee
    Department of Medicine, Taichung Veterans General Hospital, Taiwan
    Clin Genet 50:206-11. 1996
    ..disease (GSD) is an autosomal recessive metabolic disorder caused by a deficiency in glucose-6-phosphatase (G6Pase)...
  73. ncbi Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11
    S Kure
    Department of Medical Genetics, Tohoku University School of Medicine, Seiryo machi, Aoba ku, Sendai 980 8574, Japan
    Biochem Biophys Res Commun 248:426-31. 1998
    ..The W118R mutation was found in 4 out of 8 mutant alleles, suggesting that it is prevalent among Japanese patients...
  74. ncbi The microsomal glucose-6-phosphatase enzyme of human gall-bladder
    A Hill
    Department of Medicine, Ninewells Hospital and Medical School, University of Dundee, U K
    J Pathol 158:53-6. 1989
    ..The gall-bladder glucose-6-phosphatase enzyme has the same molecular weight (36,500 daltons) and similar immunological properties and kinetic characteristics to the hepatic microsomal glucose-6-phosphatase enzyme...
  75. pmc Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapy
    Wai Han Yiu
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Mol Ther 18:1076-84. 2010
    Glycogen storage disease type Ia (GSD-Ia) patients deficient in glucose-6-phosphatase-alpha (G6Pase-alpha or G6PC) manifest disturbed glucose homeostasis...
  76. ncbi The fine structural localization of testicular phosphatases in man: the control testis
    S S Barham
    Cell Tissue Res 166:497-510. 1976
    ....
  77. pmc Control of blood glucose in the absence of hepatic glucose production during prolonged fasting in mice: induction of renal and intestinal gluconeogenesis by glucagon
    Elodie Mutel
    Institut National de la Sante et de la Recherche Medicale, U855, Lyon, France
    Diabetes 60:3121-31. 2011
    ..The aim of this study was to better define the importance of the three gluconeogenic organs in glucose homeostasis...
  78. pmc SLC37A1 and SLC37A2 are phosphate-linked, glucose-6-phosphate antiporters
    Chi Jiunn Pan
    Section on Cellular Differentiation, Program in Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, United States of America
    PLoS ONE 6:e23157. 2011
    ..This reaction depends on coupling the G6P transporter (G6PT) with glucose-6-phosphatase-α (G6Pase-α). Only one G6PT, also known as SLC37A4, has been characterized, and it acts as a P(i)-linked G6P antiporter...
  79. pmc Glucose-6-phosphatase deficiency
    Roseline Froissart
    Centre de Référence Maladies Héréditaires du Métabolisme Hépatique, Service de Pediatrie, APHP, Clamart Cedex, France
    Orphanet J Rare Dis 6:27. 2011
    ..DISEASE NAME AND SYNONYMS: Glucose-6-phosphatase deficiency or G6P deficiency or glycogen storage disease type I or GSDI or type I glycogenosis or Von Gierke disease or Hepatorenal glycogenosis...
  80. doi Downregulation of hepatic glucose-6-phosphatase-α in patients with hepatic steatosis
    Sarah Konopelska
    Department of Clinical Endocrinology, Charite Campus Mitte, Charite University Medicine Berlin, Berlin, Germany
    Obesity (Silver Spring) 19:2322-6. 2011
    Glucose-6-phosphate transporter (G6PT) and microsomal glucose-6-phosphatase-α (G6Pase-α) perform the terminal step in glycogenolysis and gluconeogenesis. Deficiency of these proteins leads to glycogen storage diseases...
  81. doi Functional analysis of the 5' flanking region of the human G6PC3 gene: regulation of promoter activity by glucose, pyruvate, AMP kinase and the pentose phosphate pathway
    Kimberley Ann Bennett
    Maternal and Child Health Sciences, Ninewells Hospital and Medical School, University of Dundee, Dundee, DD1 9SY, UK
    Mol Genet Metab 103:254-61. 2011
    ..If such episodes lower G6PC3 expression they could place the foetus or infant at risk of impaired immune function and development, and this possibility requires further examination both in vitro and in vivo...
  82. ncbi Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib
    I Gerin
    Laboratory of Physiological Chemistry, Institute of Cellular Pathology and University of Louvain, Brussels, Belgium
    FEBS Lett 419:235-8. 1997
    ..The encoded protein is therefore most likely the glucose 6-phosphate translocase that is functionally associated with glucose-6-phosphatase...
  83. doi Diet-induced epigenetic regulation in vivo of the intestinal fructose transporter Glut5 during development of rat small intestine
    Takuji Suzuki
    Department of Pharmacology and Physiology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, 185 South Orange Avenue, Newark, NJ 07103, USA
    Biochem J 435:43-53. 2011
    ..In contrast, G6Pase (glucose-6-phosphatase; encoded by the G6pc gene) expression, which decreases with age and increases with fructose,..
  84. pmc Tissue-specific dysregulation of hexose-6-phosphate dehydrogenase and glucose-6-phosphate transporter production in db/db mice as a model of type 2 diabetes
    Y Wang
    Division of Endocrinology, Metabolism and Molecular Medicine, Charles Drew University of Medicine and Sciences, UCLA School of Medicine, 1731 E 120th St, Los Angeles, CA 90059, USA
    Diabetologia 54:440-50. 2011
    ..H6PDH) mediates intracellular NADPH availability for 11β-HSD1 and depends on the glucose-6-phosphate transporter (G6PT)...
  85. pmc Suppressor of cytokine signaling-3 is a glucagon-inducible inhibitor of PKA activity and gluconeogenic gene expression in hepatocytes
    Allison M Gaudy
    Department of Pharmacology and Physiology, University of Rochester Medical Center, Rochester, New York 14642, USA
    J Biol Chem 285:41356-65. 2010
    ..These data indicate that cAMP activates both the PKA and Epac pathways with induction of SOCS3 by the Epac pathway negatively regulating the PKA pathway...
  86. doi Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy
    Janice Y Chou
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Building 10, Room 9D42, 10 Center Drive, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Nat Rev Endocrinol 6:676-88. 2010
    Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosphatase-α (G6Pase-α) and GSD-Ib, which is characterized by an absence of a glucose-6-phosphate (G6P) transporter (G6PT)...
  87. doi Retinal gene expression after central retinal artery ligation: effects of ischemia and reperfusion
    Shiv S Prasad
    Genomics Division, Biologics and Genetic Therapies Directorate, Health Canada, Ottawa, Ontario, Canada
    Invest Ophthalmol Vis Sci 51:6207-19. 2010
    ..To investigate the morphologic and molecular consequences of 30- and 90-minute central retinal artery ligation (CRAL)-induced retinal ischemia, followed by 3 and 12 hours of reperfusion, and to identify potential targets for therapy...
  88. doi Rapid detection of glycogen storage disease type Ia by DNA microarray
    Shanshan Xu
    Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P R China
    Clin Chem Lab Med 48:1229-34. 2010
    ..We developed a GSD Ia microarray capable of identifying known mutations in the G6PC gene and validate the feasibility of using it as a rapid detection method for DNA-based diagnosis...
  89. pmc Elevated hepatic fatty acid elongase-5 activity corrects dietary fat-induced hyperglycemia in obese C57BL/6J mice
    Sasmita Tripathy
    Department of Nutrition and Exercise Sciences, The Linus Pauling Institute, Oregon State University, Corvallis, OR 97331, USA
    J Lipid Res 51:2642-54. 2010
    ..Our findings establish a link between fatty acid elongation and hepatic glucose metabolism and suggest a role for regulators of Elovl5 activity in the treatment of diet-induced hyperglycemia...
  90. doi Protein-induced satiety is abolished in the absence of intestinal gluconeogenesis
    Armelle Penhoat
    Institut National de la Sante et de la Recherche Medicale, U855, Lyon, F 69008, France
    Physiol Behav 105:89-93. 2011
    ..These results provide molecular evidence of the causal role of intestinal gluconeogenesis in the satiety phenomenon initiated by protein-enriched diets...
  91. ncbi Evolutionary chemistry approach toward finding novel inhibitors of the type 2 diabetes target glucose-6-phosphate translocase
    Silke Brauer
    Morphochem AG, Gmunder Strasse 37 37a, 81379 München, Germany
    J Comb Chem 7:218-26. 2005
    ..fitness function, was used to propose novel small molecules as inhibitors of glucose-6-phosphate translocase (G6PT) in iterative rounds of evolutionary optimization...
  92. ncbi Mutation analysis in glycogen storage disease type 1 non-a
    A R Janecke
    Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria
    Hum Genet 107:285-9. 2000
    We report molecular and clinical findings in 13 patients with rare types of glycogen storage disease 1 (GSD1 non-a)...
  93. ncbi Genetic variation in hepatic glucose-6-phosphatase system genes in cases of sudden infant death syndrome
    L Forsyth
    Maternal and Child Health Sciences, University of Dundee, UK
    J Pathol 212:112-20. 2007
    Genetic deficiencies of the hepatic glucose-6-phosphatase system, either of the enzyme (G6PC1) or of the glucose-6-phosphate transporter (G6PT1), result in fasting hypoglycaemia...
  94. ncbi Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype
    B W Weston
    Department of Pediatrics, University of North Carolina at Chapel Hill, 27599 7220, USA
    Pediatr Res 48:329-34. 2000
    Glycogen storage disease type 1a (GSD 1a) is caused by a deficiency in microsomal glucose-6-phosphatase (G6Pase)...
  95. ncbi Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly
    Laura Forsyth
    Maternal and Child Health Sciences, Ninewells Hospital and Medical School, University of Dundee, Dundee, DD1 9SY Scotland, UK
    J Mol Med (Berl) 83:610-8. 2005
    ..Low hepatic glucose-6-phosphatase (G6PC1) expression occurs in both low birthweight and SIDS infants...
  96. ncbi The glucose-6-phosphate transporter-hexose-6-phosphate dehydrogenase-11beta-hydroxysteroid dehydrogenase type 1 system of the adipose tissue
    Paola Marcolongo
    Department of Pathophysiology, University of Siena, 53100 Siena, Italy
    Endocrinology 148:2487-95. 2007
    ..by a tight functional connection with hexose-6-phosphate dehydrogenase and the glucose-6-phosphate transporter (G6PT)...
  97. ncbi A glucose-6-phosphate hydrolase, widely expressed outside the liver, can explain age-dependent resolution of hypoglycemia in glycogen storage disease type Ia
    Jeng Jer Shieh
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development NIH, Building 10, Room 9S241, 9000 Rockville Pike, Bethesda, MD 20892, USA
    J Biol Chem 278:47098-103. 2003
    ..the final step of both pathways, glucose-6-phosphate (G6P) is hydrolyzed to glucose by the glucose-6-phosphatase (G6Pase) complex...
  98. ncbi Metabolic characterisation of plasma in juveniles with glycogen storage disease type 1a (GSD1a) by high-resolution (1)H NMR spectroscopy
    Iola F Duarte
    CICECO, Department of Chemistry, Campus Universitario de Santiago, University of Aveiro, 3810 193 Aveiro, Portugal
    NMR Biomed 20:401-12. 2007
    ..of high-resolution (1)H NMR spectroscopy to the plasma of five juveniles with glycogen storage disease type 1a (GSD1a), permitting the characterisation of the plasma metabolic profile and the identification of alterations relative ..
  99. ncbi Mutations in the glucose-6-phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c
    L Galli
    Unit of Medical Genetics, Policlinico Le Scotte, Siena, Italy
    FEBS Lett 459:255-8. 1999
    ..for the most frequent form of GSD 1, the subtype 1a, while mutations of the glucose-6-phosphate transporter gene (G6PT) have recently been shown to cause the non 1a forms of GSD, namely the 1b and 1c subtypes...
  100. ncbi Transcriptional regulation of the glucose-6-phosphatase gene by cAMP/vasoactive intestinal peptide in the intestine. Role of HNF4alpha, CREM, HNF1alpha, and C/EBPalpha
    Amandine Gautier-Stein
    INSERM, U 449, F 69372 Lyon, France
    J Biol Chem 281:31268-78. 2006
    ..These results allow us to identify intestine-specific regulators of the Glc6Pase gene and to improve the understanding of the differences in the regulation of gluconeogenesis in the intestine compared with the liver...

Research Grants23

  1. STRUCTURAL STUDIES OF SUGAR TRANSPORTERS
    Da Neng Wang; Fiscal Year: 2007
    ..identified to date, including the glucose transporter from muscle (Glut4) and the glucose-6-phosphate transporter (G6PT), both from human and both are involved in the pathogenesis of type 2 diabetes...
  2. STRUCTURAL STUDIES OF SUGAR TRANSPORTERS
    Da Neng Wang; Fiscal Year: 2007
    ..identified to date, including the glucose transporter from muscle (Glut4) and the glucose-6-phosphate transporter (G6PT), both from human and both are involved in the pathogenesis of type 2 diabetes...
  3. STRUCTURAL STUDIES OF SUGAR TRANSPORTERS
    Da Neng Wang; Fiscal Year: 2010
    ..identified to date, including the glucose transporter from muscle (Glut4) and the glucose-6-phosphate transporter (G6PT), both from human and both are involved in the pathogenesis of type 2 diabetes...
  4. Hepcidin Expression in the Anemia of Chronic Disease
    David Weinstein; Fiscal Year: 2007
    ..iron absorption and distribution in normal controls, anemic patients, and patients with GSD Type 1 at (GSD1a; 3) To compare hepcidin expression in normal individuals and patients with GSD1a, and 4) To determine the role of ..
  5. Pathogenesis/Treatment-Inherited Cholesterol Deficiency
    CEDRIC HOWARD SHACKLETON; Fiscal Year: 2010
    ..Through the proposed experiments using SLOS mice, we hope to learn more about the timing and biochemistry of disease development and to establish a basis for eventual treatment in humans. ..
  6. Pathogenesis and Treatment of Inherited Cholesterol Deficiency
    Cedric Shackleton; Fiscal Year: 2007
    ..Through the proposed experiments using SLOS mice, we hope to learn more about the timing and biochemistry of disease development and to establish a basis for eventual treatment in humans. ..
  7. Neurosteroids and Smith-Lemli-Optiz Syndrome
    Cedric Shackleton; Fiscal Year: 2005
    ..All studies will require high sensitivity steroid analysis by chemical ionization (CI) GC/MS and HPLC/MS. ..
  8. Gas chromatograph-mass spectrometer with EI and CI
    Cedric Shackleton; Fiscal Year: 2003
    ..g., malondialdehyde) and markers of DNA damage (incorporation of uracil). Dr Kuypers has several projects on the red cell membrane, which require profiling of fatty acids using EI GC/MS. ..
  9. SMITH-LEMLI-OPITZ SYNDROME STEROIDOGENESIS
    Cedric Shackleton; Fiscal Year: 2002
    ..Finally, if ring B dehydrosteroids are produced, is the ratio of the individual dehydrometabolites to corresponding conventional metabolites related to the dehydrocholesterol to cholesterol ratio and clinical severity? ..