glucose 6 phosphatase

Summary

Gene Symbol: glucose 6 phosphatase
Description: glucose-6-phosphatase catalytic subunit
Alias: G6PC1, G6PT, G6Pase, GSD1, GSD1a, glucose-6-phosphatase, G-6-Pase, G6Pase-alpha, 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 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
  4. pmc Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease
    Janice Y Chou
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Hum Mutat 29:921-30. 2008
  5. doi Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas
    Elodie Mutel
    Institut National de la Sante et de la Recherche Medicale, U855, Lyon F 69008, France
    J Hepatol 54:529-37. 2011
  6. 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
  7. 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
  8. 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
  9. 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
  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. Varman T Samuel; Fiscal Year: 2015
  2. Characterization of Effects of G6PC2 Gene Variants on Transcription and Splicing
    RICHARD M O apos BRIEN; Fiscal Year: 2010
  3. The Role of H6PDH and 11beta-HSD1 in Type 2 Diabetes and Obesity
    Yanjun Liu; Fiscal Year: 2013
  4. Hepcidin Expression in the Anemia of Chronic Disease
    David Weinstein; Fiscal Year: 2007
  5. Proteomics of Cell Death via 2-D Microfluidic Profiling
    DON DEVOE; Fiscal Year: 2009
  6. SMITH-LEMLI-OPITZ SYNDROME STEROIDOGENESIS
    Cedric Shackleton; Fiscal Year: 2002
  7. Gas chromatograph-mass spectrometer with EI and CI
    Cedric Shackleton; Fiscal Year: 2003
  8. Neurosteroids and Smith-Lemli-Optiz Syndrome
    Cedric Shackleton; Fiscal Year: 2005

Scientific Experts

Detail Information

Publications199 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 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...
  4. pmc Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease
    Janice Y Chou
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    Hum Mutat 29:921-30. 2008
    ..Despite this, GSD-Ia patients exhibit phenotypic heterogeneity and a stringent genotype-phenotype relationship does not exist...
  5. doi Targeted deletion of liver glucose-6 phosphatase mimics glycogen storage disease type 1a including development of multiple adenomas
    Elodie Mutel
    Institut National de la Sante et de la Recherche Medicale, U855, Lyon F 69008, France
    J Hepatol 54:529-37. 2011
    ..is an inherited disease caused by a deficiency in the catalytic subunit of the glucose-6 phosphatase enzyme (G6Pase)...
  6. 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)...
  7. 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)...
  8. 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...
  9. 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...
  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. 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...
  12. 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...
  13. 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...
  14. 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 ..
  15. 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...
  16. 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...
  17. 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)...
  18. 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...
  19. 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-..
  20. 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.
  21. 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)...
  22. 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...
  23. 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...
  24. 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...
  25. 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...
  26. 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...
  27. 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...
  28. pmc 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
    ....
  29. 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...
  30. ncbi Expression of glucose-6-phosphatase system genes in murine cortex and hypothalamus
    B H Goh
    The Rolf Luft Center for Diabetes Research, Department of Molecular Medicine and Surgery, Karolinska Institute, Stockholm, Sweden
    Horm Metab Res 38:1-7. 2006
    The glucose-6-phosphatase (G6Pase) system participates in the regulation of glucose homeostasis by converting glucose-6-phosphate (G6P) into glucose and inorganic phosphates...
  31. 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).
  32. 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 ..
  33. 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 ..
  34. 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...
  35. 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
    ....
  36. 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...
  37. doi Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations
    E Tsangaris
    Marrow Failure and Myelodysplasia Program, Division of Hematology Oncology and Cell Biology Program, Research Institute, The Hospital for Sick Children and the University of Toronto, Toronto, Ontario, Canada
    J Med Genet 48:618-28. 2011
    ..Inherited bone marrow failure syndromes (IBMFSs) often have substantial phenotypic overlap, thus genotyping is often critical for establishing a diagnosis...
  38. doi Treatment of newborn G6pc(-/-) mice with bone marrow-derived myelomonocytes induces liver repair
    Roberta Resaz
    Laboratory of Molecular Biology, G Gaslini Institute, Genova, Italy
    J Hepatol 55:1263-71. 2011
    ..We sought to determine whether bone marrow-derived myelomonocytic cells could be effective for liver reconstitution in newborn mice knock-out for glucose-6-phosphatase-α...
  39. pmc Control of gene expression by the retinoic acid-related orphan receptor alpha in HepG2 human hepatoma cells
    Caroline Chauvet
    Laboratoire de Pharmacologie, Toxicologie et Signalisation Cellulaire, INSERM UMR S 747, Centre Universitaire des Saints Peres, Universite Paris Descartes, Paris, France
    PLoS ONE 6:e22545. 2011
    ..Therefore these genes must now be considered as direct RORα targets. Our results open new routes on the roles of RORα in glucose metabolism and carcinogenesis within cells of hepatic origin...
  40. pmc The glossyhead1 allele of ACC1 reveals a principal role for multidomain acetyl-coenzyme A carboxylase in the biosynthesis of cuticular waxes by Arabidopsis
    Shiyou Lü
    Center for Plant Stress Genomics and Technology, King Abdullah University of Science and Technology, Thuwal 23955 6900, Kingdom of Saudi Arabia
    Plant Physiol 157:1079-92. 2011
    ..reduced fertility, was isolated from an ethyl methanesulfonate-mutagenized population and designated glossyhead1 (gsd1)...
  41. pmc Elevated glucose represses liver glucokinase and induces its regulatory protein to safeguard hepatic phosphate homeostasis
    Catherine Arden
    Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, U K
    Diabetes 60:3110-20. 2011
    ..The induction of hepatic glucose 6-phosphatase (G6pc) by glucose presents a paradox of glucose-induced glucose intolerance. We tested whether glucose regulation of liver gene expression is geared toward intracellular homeostasis...
  42. doi Vitamin A status affects obesity development and hepatic expression of key genes for fuel metabolism in Zucker fatty rats
    Yan Zhang
    The Diabetes Center at Wuhan Central Hospital, No 26 Shengli Road, Jiangan District, Wuhan, Hubei 430014, China
    Biochem Cell Biol 90:548-57. 2012
    ..VA status affected obesity development and altered the expression of hepatic genes for fuel metabolism in ZF rats. The mechanisms will help us to combat metabolic diseases...
  43. doi Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a
    Jeng Jer Shieh
    Institute of Biomedical Sciences, National Chung Hsing University, Taichung, Taiwan
    Gene 509:154-7. 2012
    ..This report also reminds us that hepatocellular carcinoma could develop even in very mild GSD 1a patients...
  44. pmc Toll-like receptor 4 signaling is required for induction of gluconeogenic gene expression by palmitate in human hepatic carcinoma cells
    Laman K Mamedova
    Department of Animal Sciences and Industry, Kansas State University, Manhattan, KS 66506, USA
    J Nutr Biochem 24:1499-507. 2013
    ..These results suggest that TLR4 signaling could play a critical role in linking elevated saturated FFA to increased transcription of gluconeogenic genes. ..
  45. pmc In vivo hepatic lipid quantification using MRS at 7 Tesla in a mouse model of glycogen storage disease type 1a
    Nirilanto Ramamonjisoa
    Universite de Lyon, CREATIS, CNRS UMR 5220, INSERM U1044, INSA Lyon, Universite Lyon 1, Villeurbanne, France
    J Lipid Res 54:2010-22. 2013
    ..These results showed the great potential of high magnetic field MRS to follow the diet impact and lipid alterations in mouse liver...
  46. pmc Glucose-6-phosphatase is a key metabolic regulator of glioblastoma invasion
    Sara Abbadi
    Department of Neurosurgery and Oncology, Johns Hopkins University School of Medicine, Baltimore, Maryland
    Mol Cancer Res 12:1547-59. 2014
    ..In this study, it was determined that glucose-6-phosphatase (G6PC/G6Pase) expression is elevated in GBM when compared with normal brain...
  47. pmc Grain setting defect1, encoding a remorin protein, affects the grain setting in rice through regulating plasmodesmatal conductance
    Jinshan Gui
    National Key Laboratory of Plant Molecular Genetics, Institute of Plant Physiology and Ecology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200032, China
    Plant Physiol 166:1463-78. 2014
    ..Grain setting defect1 (GSD1), which encodes a putative remorin protein, was found to affect grain setting in rice...
  48. doi Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes
    Janice Y Chou
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA
    J Inherit Metab Dis 38:511-9. 2015
    Disorders of the glucose-6-phosphatase (G6Pase)/glucose-6-phosphate transporter (G6PT) complexes consist of three subtypes: glycogen storage disease type Ia (GSD-Ia), deficient in the liver/kidney/intestine-restricted G6Pase-α (or G6PC); ..
  49. pmc Diabetes Induces Aberrant DNA Methylation in the Proximal Tubules of the Kidney
    Takeshi Marumo
    Division of Clinical Epigenetics, Research Center for Advanced Science and Technology, CREST, Japan Science and Technology Agency, Tokyo, Japan
    J Am Soc Nephrol 26:2388-97. 2015
    ..These results suggest that an epigenetic switch involving aberrant DNA methylation causes persistent mRNA expression of select genes that may lead to phenotype changes of the proximal tubules in diabetic kidney disease. ..
  50. doi Genetic and molecular analyses reveal G6PC as a key element connecting glucose metabolism and cell cycle control in ovarian cancer
    Ting Guo
    Department of Gynaecology, Obstetrics and Gynaecology Hospital, Fudan University, Shanghai, 200011, People s Republic of China
    Tumour Biol 36:7649-58. 2015
    ..Pharmaceutical inhibition of G6PC with specific compound showed similar effects to genetic silencing. G6PC played dual roles both in glucose metabolism and cell cycle control in OvCa, which potentiated it a promising therapeutic target...
  51. doi Effect of propionate on mRNA expression of key genes for gluconeogenesis in liver of dairy cattle
    Qian Zhang
    Department of Animal Sciences, Purdue University, West Lafayette, IN 47907
    J Dairy Sci 98:8698-709. 2015
    ....
  52. doi Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency
    Benjamin L Farah
    Cardiovascular and Metabolic Disorders Program, Duke NUS Graduate Medical School Singapore, Singapore
    J Hepatol 64:370-9. 2016
    Glucose-6-phosphatase (G6Pase α, G6PC) deficiency, also known as von Gierke's disease or GSDIa, is the most common glycogen storage disorder...
  53. doi The five glucose-6-phosphatase paralogous genes are differentially regulated by insulin alone or combined with high level of amino acids and/or glucose in trout hepatocytes
    Marandel Lucie
    Institut National de la Recherche Agronomique INRA, Nutrition, Metabolism, Aquaculture UR1067, 64310, Saint Pée sur Nivelle, France
    Mol Biol Rep 43:207-11. 2016
    ..These findings open new perspectives to better understand in vivo glucose-intolerant phenotype in trout fed a high carbohydrate diet. ..
  54. pmc Repair of liver mediated by adult mouse liver neuro-glia antigen 2-positive progenitor cell transplantation in a mouse model of cirrhosis
    Hongyu Zhang
    Hepatobiliary Institute, Southwestern Hospital, No 30 Gaotanyan, ShapingBa Distract, Chongqing 400038, China
    Sci Rep 6:21783. 2016
    ..In addition, grafted MLpvNG2(+) cells could mobilize endogenous stem/progenitors to participate in liver repair. These results suggest that MLpvNG2(+) cells may be novel adult liver progenitors that participate in liver regeneration. ..
  55. 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)...
  56. 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...
  57. 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...
  58. 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...
  59. 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...
  60. 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...
  61. 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...
  62. 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 ..
  63. 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
    ....
  64. 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).
  65. 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
    ....
  66. 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...
  67. pmc Feedback regulation of hepatic gluconeogenesis through modulation of SHP/Nr0b2 gene expression by Sirt1 and FoxO1
    Dan Wei
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, USA
    Am J Physiol Endocrinol Metab 300:E312-20. 2011
    ..Thus, our results suggest that Sirt1 can both positively and negatively regulate hepatic gluconeogenesis through FoxO1 and Nr0b2 and keep this physiological process in control...
  68. doi Role for PPARγ in obesity-induced hepatic steatosis as determined by hepatocyte- and macrophage-specific conditional knockouts
    Eva Morán-Salvador
    Department of Biochemistry and Molecular Genetics, Hospital Clinic, Esther Koplowitz Center Institut d Investigacions Biomèdiques August Pi i Sunyer IDIBAPS, University of Barcelona, Barcelona, Spain
    FASEB J 25:2538-50. 2011
    ..Collectively, these findings establish PPARγ expression in hepatocytes as a prosteatotic factor in fatty liver disease...
  69. doi Preemptive liver-kidney transplantation in von Gierke disease: a case report
    A Marega
    Department of Nephrology, Azienda Ospedaliero Universitaria S Maria della Misericordia, Udine, Italy
    Transplant Proc 43:1196-7. 2011
    ..Herein we have described the management and the clinical course of a GSD1a patient who underwent simultaneous preemptive liver- kidney transplantation (SPLKT), which solved the liver and ..
  70. pmc Berberine regulated Gck, G6pc, Pck1 and Srebp-1c expression and activated AMP-activated protein kinase in primary rat hepatocytes
    Yuebin Ge
    College of Pharmacy, South Central University for Nationalities, Wuhan, Hubei 430073, China
    Int J Biol Sci 7:673-84. 2011
    ..We conclude that berberine hydrochloride regulated the transcription of hepatic genes involved in glucose and fatty acid metabolism...
  71. doi New insights into the organisation and intracellular localisation of the two subunits of glucose-6-phosphatase
    Maud Soty
    INSERM, Unit 855, Lyon F 69008, France
    Biochimie 94:695-703. 2012
    Glucose-6 phosphatase (G6Pase), a key enzyme of glucose homeostasis, catalyses the hydrolysis of glucose-6 phosphate (G6P) to glucose and inorganic phosphate...
  72. pmc Inhibition of gluconeogenic genes by calcium-regulated heat-stable protein 1 via repression of peroxisome proliferator-activated receptor α
    Yanbo Fan
    Cardiovascular Center, Department of Internal Medicine, University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA
    J Biol Chem 286:40584-94. 2011
    ..Our data suggest that CARHSP1 inhibits hepatic gluconeogenic gene expression via repression of PPARα and that CARHSP1 may be a molecular target for the treatment of diabetes...
  73. doi Glycemic management in living donor liver transplantation for patients with glycogen storage disease type 1b
    Chiaki Karaki
    Department of Anesthetic and Intensive Care, National Center for Child Health and Development, Tokyo, Japan
    Pediatr Transplant 16:465-70. 2012
    GSD type 1b is an autosomal recessive inborn error of carbohydrate metabolism caused by defects of the G6Pase translocase (G6PT)...
  74. doi The glucose-6-phosphate transport is not mediated by a glucose-6-phosphate/phosphate exchange in liver microsomes
    Paola Marcolongo
    Department of Pathophysiology, Experimental Medicine and Public Health, University of Siena, Siena, Italy
    FEBS Lett 586:3354-9. 2012
    A phosphate-linked antiporter activity of the glucose-6-phosphate transporter (G6PT) has been recently described in liposomes including the reconstituded transporter protein...
  75. pmc Beneficial metabolic effects of CB1R anti-sense oligonucleotide treatment in diet-induced obese AKR/J mice
    Yuting Tang
    Cardiovascular and Metabolism Therapeutic Area, Janssen Pharmaceutical Companies of Johnson and Johnson, Spring House, Pennsylvania, United States of America
    PLoS ONE 7:e42134. 2012
    ....
  76. pmc S-adenosylmethionine-dependent protein methylation is required for expression of selenoprotein P and gluconeogenic enzymes in HepG2 human hepatocytes
    Matthew I Jackson
    Grand Forks Human Nutrition Research Center, Agricultural Research Service, United States Department of Agriculture, Grand Forks, North Dakota 58203, USA
    J Biol Chem 287:36455-64. 2012
    ....
  77. ncbi Multiple roles of glucose-6-phosphatases in pathophysiology: state of the art and future trends
    Paola Marcolongo
    Department of Pathophysiology, Experimental Medicine and Public Health, University of Siena, Siena, Italy
    Biochim Biophys Acta 1830:2608-18. 2013
    ..The isoforms are expressed differently in various tissues. Mutations in all three genes have been reported to be associated with human diseases...
  78. pmc Identification of candidate transcription factor binding sites in the cattle genome
    Derek M Bickhart
    Bovine Functional Genomics Laboratory, United States Department of Agriculture, Agricultural Research Service USDA ARS, Beltsville Agricultural Research Service, Beltsville, MD 20705, USA
    Genomics Proteomics Bioinformatics 11:195-8. 2013
    ..All binding site predictions are freely available at http://bfgl.anri.barc.usda.gov/BovineTFBS/ or http://199.133.54.77/BovineTFBS. ..
  79. doi Increased expression of STK25 leads to impaired glucose utilization and insulin sensitivity in mice challenged with a high-fat diet
    Emmelie Cansby
    The Lundberg Laboratory for Diabetes Research, Department of Molecular and Clinical Medicine, University of Gothenburg, Bla Straket 5, SE 41345 Gothenburg, Sweden
    FASEB J 27:3660-71. 2013
    ..Our findings suggest that overexpression of STK25 in conditions of excess dietary fuels associates with a shift in the metabolic balance in peripheral tissues from lipid oxidation to storage, leading to a systemic insulin resistance...
  80. doi Screen for small molecules increasing the mitochondrial membrane potential
    Christine R Montague
    1Agave BioSystems, Inc, Ithaca, NY, USA
    J Biomol Screen 19:387-98. 2014
    ..Changes in the accumulation of a series of factors involved in early gene response or apoptosis or linked to metabolic functions (i.e., β-Klotho, RORα, PGC-1α, G6PC, IGFBP1, FTL) were discovered. ..
  81. pmc Zonation of nitrogen and glucose metabolism gene expression upon acute liver damage in mouse
    Shahrouz Ghafoory
    Institute of Pharmacy and Molecular Biotechnology, Heidelberg University, Heidelberg, Germany
    PLoS ONE 8:e78262. 2013
    ..Our results indicate that despite severe damage, liver cells in the damaged area do not simply die but instead display locally adjusted gene expression supporting damage response and recovery. ..
  82. ncbi G6PT Inhibition Model Using HL-60 Cells and Induction of ROS Production through PKC/NOX2 Activation: Clinical Condition for Elucidation of Glycogen Storage Disease Type Ib
    Daisuke Satoh
    Department of Clinical Pharmacy, Graduate School of Pharmaceutical Sciences, Nagoya City University
    Biol Pharm Bull 37:534-40. 2014
    Glycogen storage disease type Ib (GSD-Ib) is caused by mutations in the glucose-6-phosphate transporter (G6PT) gene, which is involved in glycogen metabolism...
  83. pmc Molecular mechanisms of neutrophil dysfunction in glycogen storage disease type Ib
    Hyun Sik Jun
    Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD
    Blood 123:2843-53. 2014
    ..Previously, we showed G6PT interacts with the enzyme glucose-6-phosphatase-β (G6Pase-β) to regulate the availability of G6P/glucose in neutrophils...
  84. doi Activation of cAMP signaling attenuates impaired hepatic glucose disposal in aged male p21-activated protein kinase-1 knockout mice
    Yu Ting Alex Chiang
    Division of Advanced Diagnostics Y t A C, W I, W S, Z E S, T J, Toronto General Research Institute, University Health Network, Toronto, Canada M5G 1L7 Department of Physiology Y t A C, T J, University of Toronto, Toronto, Canada M5S 1A8 and Institute of Medical Science W I, T J, University of Toronto, Canada and Fox Chase Cancer Center J C, Philadelphia, Pennsylvania 19111
    Endocrinology 155:2122-32. 2014
    ..Our observations indicate a potential role of Pak1 in the gut/pancreas/liver axis in controlling glucose disposal and affirmed the therapeutic application of GLP-1 and DPP-IV inhibitors in attenuating hepatic gluconeogenesis. ..
  85. pmc Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia
    Bi xia Zheng
    Nanjing Children s Hospital Affiliated to Nanjing Medical University, Nanjing, China
    Eur J Pediatr 174:59-63. 2015
    ..Ala274Val, p.Phe80Ile, and p.Gly118Asp). The c.262delG mutation which leads to a frame-shift and truncated forms of glucose-6-phosphatase was present in three unrelated patients (one homozygote and two heterozygotes)...
  86. pmc Development of hepatocellular adenomas and carcinomas in mice with liver-specific G6Pase-α deficiency
    Roberta Resaz
    Laboratory of Molecular Biology, Istituto Gannina Gaslini, 16147 Genova, Italy
    Dis Model Mech 7:1083-91. 2014
    Glycogen storage disease type 1a (GSD-1a) is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α), and is characterized by impaired glucose homeostasis and a high risk of developing hepatocellular adenomas (HCAs)...
  87. doi Lessons from new mouse models of glycogen storage disease type 1a in relation to the time course and organ specificity of the disease
    Fabienne Rajas
    Institut National de la Sante et de la Recherche Medicale, U855, Lyon, 69008, France
    J Inherit Metab Dis 38:521-7. 2015
    ..Thus, our data suggest that renal G6Pase deficiency per se is sufficient to induce the renal pathology of GSD1...
  88. pmc Impaired glucose metabolism in response to high fat diet in female mice conceived by in vitro fertilization (IVF) or ovarian stimulation alone
    MiaoXin Chen
    Robinson Research Institute, School of Paediatrics and Reproductive Health, The University of Adelaide, Adelaide, Australia, 5005 Department of Obstetrics and Gynaecology, The Affiliated Hospital of Guiyang Medical College, Guiyang, China, 550004 Discipline of Medicine, The University of Adelaide, Adelaide, Australia, 5005
    PLoS ONE 9:e113155. 2014
    ..This study adds to the growing body of literature that assisted reproduction procedures may increase the risk of developing type 2 diabetes in an obesity prone environment...
  89. doi Identification of glucose-6-phosphate transporter as a key regulator functioning at the autophagy initiation step
    Hye Hyun Ahn
    Global Research Laboratory, School of Biological Science, Seoul National University, Gwanak Gu, Seoul, Republic of Korea Interdisciplinary Graduate Program in Genetic Engineering, Seoul National University, Gwanak Gu, Seoul, Republic of Korea
    FEBS Lett 589:2100-9. 2015
    ..By performing gain-of-function screening, we identified G6PT as an autophagy activator...
  90. doi Trace Mineral Overload Induced Hepatic Oxidative Damage and Apoptosis in Pigs with Long-Term High-Level Dietary Mineral Exposure
    Junning Pu
    Key Laboratory of Animal Disease Resistance Nutrition, Animal Nutrition Institute, Sichuan Agricultural University, 46 Xinkang Road, Yucheng District, Yaan, Sichuan 625014, China
    J Agric Food Chem 64:1841-9. 2016
    ..Taken together, the results indicated that long-term dietary mineral exposure with the commercial supplement level could cause harm to the structure and metabolic function of liver in pigs. ..
  91. pmc In Vivo Zinc Finger Nuclease-mediated Targeted Integration of a Glucose-6-phosphatase Transgene Promotes Survival in Mice With Glycogen Storage Disease Type IA
    Dustin J Landau
    Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA
    Mol Ther 24:697-706. 2016
    Glycogen storage disease type Ia (GSD Ia) is caused by glucose-6-phosphatase (G6Pase) deficiency in association with severe, life-threatening hypoglycemia that necessitates lifelong dietary therapy...
  92. doi Pterosin B has multiple targets in gluconeogenic programs, including coenzyme Q in RORα-SRC2 signaling
    Yumi Itoh
    Cell Signaling and Metabolic Disease, National Institutes of Biomedical Innovation, Health and Nutrition, Osaka, 567 0085, Japan
    Biochem Biophys Res Commun 473:415-20. 2016
    ..This was a site disrupted by pterosin B in gluconeogenic programs. ..
  93. pmc Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review
    Bingqing Zhang
    Department of Internal Medicine, Chinese Academy of Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Beijing, China
    Clin Rheumatol 35:2851-2856. 2016
    ..Here, we describe a female patient with gout, review previous cases, and discuss the mechanisms of gout and hyperuricaemia in glycogen storage disease type Ia...
  94. doi Progressive development of renal cysts in glycogen storage disease type I
    Monika Gjorgjieva
    Institut National de la Sante et de la Recherche Medicale, U1213, Lyon, France
    Hum Mol Genet 25:3784-3797. 2016
    ..Systematic observations of cyst development by kidney imaging should improve the evaluation of the disease's progression, independently of biochemical markers...
  95. doi Lupinus albus Conglutin Gamma Modifies the Gene Expressions of Enzymes Involved in Glucose Hepatic Production In Vivo
    Ana E González-Santiago
    Instituto de Enfermedades Crónico Degenerativas, Departamento de Biología Molecular y Genómica, C U C S, Universidad de Guadalajara, Sierra Mojada 950, Col Independencia C P, 44350, Guadalajara, Jalisco, Mexico
    Plant Foods Hum Nutr . 2017
    ..Overall, these findings suggest that Cγ is involved in reducing hepatic glucose production, mainly through G6pc inhibition in impaired glucose metabolism disorders...
  96. 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. ..
  97. 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...
  98. 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
  99. 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. ..

Research Grants8

  1. Varman T Samuel; Fiscal Year: 2015
    ....
  2. Characterization of Effects of G6PC2 Gene Variants on Transcription and Splicing
    RICHARD M O apos BRIEN; Fiscal Year: 2010
    ..In addition, our sequence analyses suggest that the G6PC2 SNP that was first linked to variations in fasting blood glucose is located in a branch point, a key cis-acting element controlling pre-mRNA splicing. ..
  3. The Role of H6PDH and 11beta-HSD1 in Type 2 Diabetes and Obesity
    Yanjun Liu; Fiscal Year: 2013
    ..This reaction requires the G6P transporter (G6PT) to maintain its metabolic substrateG6P availability...
  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. Proteomics of Cell Death via 2-D Microfluidic Profiling
    DON DEVOE; Fiscal Year: 2009
    ..will work with Dr. DeVoe to develop electrokinetic simulations to be employed in optimizing the microfluidic separation systems in order to meet the stated performance goals for ultra-high-throughput protein profiling. ..
  6. 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? ..
  7. 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. ..
  8. 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. ..