J Y Chou

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. ncbi request reprint Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib
    Li Yuan Chen
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, 20892, USA
    Hum Mol Genet 11:3199-207. 2002
  2. ncbi request reprint Molecular genetics of hepatic methionine adenosyltransferase deficiency
    J Y Chou
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Pharmacol Ther 85:1-9. 2000
  3. ncbi request reprint 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 request reprint 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 request reprint Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a
    Janice Yang Chou
    Heritable Disorders Branch, National Institute of Child Health and Human Development, Building 10, Room 9S241, NIH, Bethesda, MD 20892 1830, USA
    Eur J Pediatr 161:S56-61. 2002
  6. ncbi request reprint Characterization of pregnancy-specific beta 1-glycoprotein synthesized by human placental fibroblasts
    J Y Chou
    Human Genetics Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    Mol Endocrinol 3:89-96. 1989
  7. ncbi request reprint Correction of glycogen storage disease type 1a in a mouse model by gene therapy
    A Zingone
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    J Biol Chem 275:828-32. 2000
  8. pmc Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations
    M E Chamberlin
    Heritable Disorders Branch, National Institute of Child Health and Human Development NICHD, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 66:347-55. 2000
  9. ncbi request reprint Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents
    B Lin
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 273:31656-60. 1998
  10. ncbi request reprint Characterization of two allelic variants of a human pregnancy-specific glycoprotein gene
    K J Lei
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 268:17528-38. 1993

Collaborators

Detail Information

Publications58

  1. ncbi request reprint Structure-function analysis of the glucose-6-phosphate transporter deficient in glycogen storage disease type Ib
    Li Yuan Chen
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, 20892, USA
    Hum Mol Genet 11:3199-207. 2002
    ..Finally, we show that degradation of both wild-type and mutant G6PT is inhibited by a potent proteasome inhibitor, lactacystin, demonstrating that G6PT is a substrate for proteasome-mediated degradation...
  2. ncbi request reprint Molecular genetics of hepatic methionine adenosyltransferase deficiency
    J Y Chou
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Pharmacol Ther 85:1-9. 2000
    ....
  3. ncbi request reprint 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
    ..These recent developments are increasing our understanding of the GSD-l disorders and the G6Pase system, knowledge that will facilitate the development of novel therapeutic approaches for these disorders...
  4. ncbi request reprint 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
    ..Recently developed animal models of the disorders are now being exploited to delineate the disease more precisely and develop new, more causative therapies...
  5. ncbi request reprint Adenovirus-mediated gene therapy in a mouse model of glycogen storage disease type 1a
    Janice Yang Chou
    Heritable Disorders Branch, National Institute of Child Health and Human Development, Building 10, Room 9S241, NIH, Bethesda, MD 20892 1830, USA
    Eur J Pediatr 161:S56-61. 2002
    ..Further, liver and kidney enlargement were less pronounced with near normal levels of glycogen depositions in both organs...
  6. ncbi request reprint Characterization of pregnancy-specific beta 1-glycoprotein synthesized by human placental fibroblasts
    J Y Chou
    Human Genetics Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    Mol Endocrinol 3:89-96. 1989
    ..Our finding that a variant PS beta G species is produced in placental fibroblasts raises the possibility that the authentic placental PS beta G species may have different functions...
  7. ncbi request reprint Correction of glycogen storage disease type 1a in a mouse model by gene therapy
    A Zingone
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    J Biol Chem 275:828-32. 2000
    ..Our data demonstrate that a single administration of a recombinant adenoviral vector can alleviate the pathological manifestations of GSD-1a in mice, suggesting that this disorder in humans can potentially be corrected by gene therapy...
  8. pmc Methionine adenosyltransferase I/III deficiency: novel mutations and clinical variations
    M E Chamberlin
    Heritable Disorders Branch, National Institute of Child Health and Human Development NICHD, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 66:347-55. 2000
    ....
  9. ncbi request reprint Cloning and characterization of cDNAs encoding a candidate glycogen storage disease type 1b protein in rodents
    B Lin
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 273:31656-60. 1998
    ..Interestingly, although the G6Pase mRNA is expressed primarily in the liver, kidney, and intestine, the GSD-1b mRNA is expressed in numerous tissues, including human neutrophils/monocytes...
  10. ncbi request reprint Characterization of two allelic variants of a human pregnancy-specific glycoprotein gene
    K J Lei
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 268:17528-38. 1993
    ..Mutagenesis studies also showed that the ACAGC repeats at nucleotides -84 to -68 in the PSG12 5'-flanking are essential for expression of the PSG12 gene in human placental cells...
  11. ncbi request reprint Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b
    H Hiraiwa
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland, 20892, USA
    J Biol Chem 274:5532-6. 1999
    ....
  12. ncbi request reprint A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice
    H Hiraiwa
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 276:7963-7. 2001
    ..Taken together, the results strongly suggest that metabolic abnormalities in HNF1alpha-null mice are caused in part by G6PT deficiency and by perturbations of the G6Pase system...
  13. 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
    ..This effective use of gene therapy to correct metabolic imbalances and myeloid dysfunctions in GSD-Ib mice holds promise for the future of gene therapy in humans...
  14. ncbi request reprint Subtle differences in human pregnancy-specific glycoprotein gene promoters allow for differential expression
    M E Chamberlin
    Human Genetics Branch, NICHHD, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 269:17152-9. 1994
    ..We have previously reported activator sequences within nucleotides -83 to -34 in PSG12. We now show that a 50-kDa protein binds to this region of PSG12, and the resultant complex can be supershifted by a monoclonal antibody to PEA3...
  15. ncbi request reprint Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer
    A Ghosh
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
    Gene Ther 13:321-9. 2006
    ..This effective use of gene therapy to correct metabolic imbalances and disease progression in GSD-Ia mice holds promise for the future of gene therapy in humans...
  16. pmc Dominant inheritance of isolated hypermethioninemia is associated with a mutation in the human methionine adenosyltransferase 1A gene
    M E Chamberlin
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 60:540-6. 1997
    ..Cotransfection studies show that R264/R264H MAT(alpha)1 heterodimers are enzymatically inactive, thus providing an explanation for the R264H-mediated dominant inheritance of hypermethioninemia...
  17. ncbi request reprint Characterization of a major member of the rat pregnancy-specific glycoprotein family
    H Chen
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892
    DNA Cell Biol 11:139-48. 1992
    ..Northern hybridization and ribonuclease protection assays also suggest that rnCGM6 may be the major PSG member in rat...
  18. ncbi request reprint Human variant glucose-6-phosphate transporter is active in microsomal transport
    B Lin
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Genet 107:526-9. 2000
    ..These results raise the possibility that mutations in exon-7 of the G6PT gene, which would not perturb glucose homeostasis, might have other deleterious effects...
  19. ncbi request reprint Immortalization of virus-free human placental cells that express tissue-specific functions
    K J Lei
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Mol Endocrinol 6:703-12. 1992
    ..Sodium butyrate, which stimulates PSG expression, greatly increased CAT activity, indicating that butyrate-induced PSG expression is regulated primarily at the level of gene transcription...
  20. ncbi request reprint Effects of sodium butyrate on the synthesis of human pregnancy-specific beta 1-glycoprotein
    J Y Chou
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 265:8788-94. 1990
    ..Placental fibroblasts provide a unique model for the study of the mechanisms responsible for the differential expression of the PS beta G gene...
  21. ncbi request reprint Cloning and expression of murine S-adenosylmethionine synthetase
    S F Sakata
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 268:13978-86. 1993
    ..The -365 to -2-bp DNA region upstream of the transcription start site of the AdoMet synthetase gene contains promoter elements, and the -518 to -366-bp DNA region might be involved in negative gene regulation...
  22. ncbi request reprint Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse
    K J Lei
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 13:203-9. 1996
    ..We propose a modified translocase catalytic unit model for G6Pase catalysis...
  23. ncbi request reprint In islet-specific glucose-6-phosphatase-related protein, the beta cell antigenic sequence that is targeted in diabetes is not responsible for the loss of phosphohydrolase activity
    J J Shieh
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Diabetologia 48:1851-9. 2005
    ..We therefore investigated the molecular events that inactivate IGRP activity and the effects of the beta cell antigen sequence on the stability and enzymatic activity of G6Pase-alpha...
  24. ncbi request reprint Isolation of the gene for murine glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1A
    L L Shelly
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    J Biol Chem 268:21482-5. 1993
    ..The characterization of the murine glucose-6-phosphatase gene opens the way for studying the molecular basis of GSD type 1a in humans and its etiology in an animal model...
  25. ncbi request reprint Ontogeny of the murine glucose-6-phosphatase system
    C J Pan
    Heritable Disorders Branch, National Institute of Child Health and Human Development, Bethesda, Maryland, 20892, USA
    Arch Biochem Biophys 358:17-24. 1998
    ..Despite the expression of G6Pase in the embryonic liver, microsomal G6P transport activity was not detectable until birth, peaking at about age 4 weeks. Our study strongly supports the multicomponent model for the G6Pase system...
  26. ncbi request reprint Transmembrane topology of human glucose 6-phosphate transporter
    C J Pan
    Heritable Disorders Branch, NICHHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 274:13865-9. 1999
    ..Whereas wild-type G6PT is not a glycoprotein, both T53N and S55N mutants are glycosylated, strongly supporting the ten-helical model for G6PT...
  27. pmc The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region
    C Phornphutkul
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:712-21. 2001
    ..These findings suggest that the CTNS promoter region should be examined in patients with cystinosis who have fewer than two coding-sequence mutations...
  28. ncbi request reprint 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
    ..Several mutations in the G6Pase gene of affected individuals that completely inactivate the enzyme have been identified. These results establish the molecular basis of this disease and open the way for future gene therapy...
  29. pmc Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia
    W H Yiu
    Section on Cellular Differentiation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Kidney Int 73:716-23. 2008
    ..Our results suggest that activation of the angiotensin system has an important role in the pathophysiology of renal disease in patients with GSD-Ia...
  30. ncbi request reprint Isolation and characterization of a human amnion epithelial cell line that expresses the pregnancy-specific beta 1-glycoprotein gene
    C A Plouzek
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Endocrinology 129:950-8. 1991
    ..However, these amnion cells expressed selectively a certain population of PSG transcripts. Our results show that this amnion cell line provides a suitable model for studies of PSG gene expression and regulation...
  31. pmc Demyelination of the brain is associated with methionine adenosyltransferase I/III deficiency
    M E Chamberlin
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Invest 98:1021-7. 1996
    ..Therefore, a DNA-based diagnosis should be performed for individuals with isolated hypermethioninemia to assess if therapy aimed at the prevention of neurological manifestations is warranted...
  32. ncbi request reprint Characterization of two promoters of a rat pregnancy-specific glycoprotein gene
    H Chen
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Biochemistry 33:9615-26. 1994
    ..PISII contains a palindromic motif, TGTTGCTCAACA, and protein cross-linking and Southwestern hybridization analyses demonstrated that the protein factor binding to PISII had an apparent molecular mass of 40 kDa...
  33. ncbi request reprint Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase
    C J Pan
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    J Biol Chem 273:21658-62. 1998
    ..We present additional evidence suggesting that the integrity of transmembrane helices is essential for G6Pase stability and catalytic activity...
  34. ncbi request reprint Differential gene expression in the amnion, chorion, and trophoblast of the human placenta
    C A Plouzek
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Placenta 14:277-85. 1993
    ..Furthermore, the amnion and chorion demonstrated differences in PSG species expression from each other and from trophoblastic tissue. Thus, human amnion, chorion and trophoblast selectively express several placental genes...
  35. ncbi request reprint Human pregnancy-specific beta 1-glycoprotein: a new member of the carcinoembryonic antigen gene family
    S Watanabe
    Human Genetics Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    Biochem Biophys Res Commun 152:762-8. 1988
    ..The positions of the cysteine residues in each domain also are conserved, indicating that PS beta G and CEA are two members of the same gene family...
  36. ncbi request reprint Glucocorticoids activate transcription of the gene for the glucose-6-phosphate transporter, deficient in glycogen storage disease type 1b
    H Hiraiwa
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892-1830, USA
    DNA Cell Biol 20:447-53. 2001
    ..Taken together, the results suggest that glucocorticoids play a pivotal role in regulating the G6PT gene...
  37. ncbi request reprint Expression of the pregnancy-specific beta 1-glycoprotein gene in cultured human trophoblasts
    J Y Chou
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892
    Endocrinology 127:2127-35. 1990
    ..PS beta G gene expression in primary trophoblasts was slightly reduced by 8-bromo-cAMP, but was markedly inhibited by sodium butyrate...
  38. pmc The gene for glycogen-storage disease type 1b maps to chromosome 11q23
    B Annabi
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 62:400-5. 1998
    ..Eventual molecular characterization of this disease will provide new insights into the genetic bases of G6P metabolism and neutrophil-monocyte dysfunction...
  39. ncbi request reprint Expression of the germ cell alkaline phosphatase gene in human choriocarcinoma cells
    S Watanabe
    Human Genetics Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    J Biol Chem 264:12611-9. 1989
    ..The isolation and characterization of germ cell ALP cDNA clones from a butyrate-treated choriocarcinoma cDNA library showed that the germ cell ALP mRNA is 2487 bases in length and exon XI of this gene is 1135 base pairs long...
  40. ncbi request reprint Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice
    Mao Sen Sun
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    Hum Mol Genet 11:2155-64. 2002
    ..Our results suggest that human GSD-Ia would be treatable by gene therapy...
  41. ncbi request reprint The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase
    Jeng Jer Shieh
    Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 277:5047-53. 2002
    ....
  42. ncbi request reprint Isolation and characterization of complementary DNAs encoding human pregnancy-specific beta 1-glycoprotein
    S Watanabe
    Human Genetics Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    J Biol Chem 263:2049-54. 1988
    ..Primer extension and S1 nuclease mapping experiments demonstrated that PS beta G mRNAs have heterogeneous 5' termini...
  43. 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
    ..Our data demonstrate that the ER protein retention signal in human G6Pase is not essential for activity. However, residues 347-354 may be required for optimal G6Pase catalysis...
  44. ncbi request reprint Molecular characterization of murine pancreatic phospholipase A(2)
    A K Mandal
    Section on Developmental Genetics, Heritable Disorders Branch, The National Institute of Child Health and Human Development, The National Institutes of Health, Bethesda, Maryland 20892, USA
    DNA Cell Biol 20:149-57. 2001
    ..1. Taken together, our results suggest that sPLA(2)IB plays important roles both in the pancreas and in extrapancreatic tissues and that in the mouse, its expression is developmentally regulated...
  45. pmc Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency
    T Ubagai
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Clin Invest 96:1943-7. 1995
    ..These results establish the molecular basis of this disorder and allow for the development of DNA-based methodologies to investigate and diagnose hypermethioninemic individuals suspected of having abnormalities at this locus...
  46. ncbi request reprint A potential new role for muscle in blood glucose homeostasis
    Jeng Jer Shieh
    Section on Cellular Differentiation, Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 279:26215-9. 2004
    ..Our data suggest that muscle may have a previously unrecognized role in interprandial glucose homeostasis...
  47. ncbi request reprint 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
    ..These findings demonstrate that G6PT is not just a G6P transport protein but also an important immunomodulatory protein whose activities need to be addressed in treating the myeloid complications in GSD-Ib patients...
  48. ncbi request reprint The role of HNF1alpha, HNF3gamma, and cyclic AMP in glucose-6-phosphatase gene activation
    B Lin
    Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Biochemistry 36:14096-106. 1997
    ..We showed that AE-II mediated transcription activation of the G6Pase gene by cAMP...
  49. ncbi request reprint 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
    ....
  50. ncbi request reprint The catalytic center of glucose-6-phosphatase. HIS176 is the nucleophile forming the phosphohistidine-enzyme intermediate during catalysis
    Abhijit Ghosh
    Section on Cellular Differentiation, Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 277:32837-42. 2002
    ....
  51. ncbi request reprint Fetal and variant alpha-fetoproteins are encoded by mRNAs that differ in sequence at the 5' end
    Y J Wan
    Human Genetics Branch, National Institute of Child Health and Human Development, Bethesda, Maryland 20892
    Biochemistry 27:7269-76. 1988
    ..1 kb). However, ARFP5 contains an additional 90 bp variant AFP mRNA-specific 5' sequence which is located in the seventh intron of the rat AFP gene.(ABSTRACT TRUNCATED AT 250 WORDS)..
  52. ncbi request reprint Histidine 167 is the phosphate acceptor in glucose-6-phosphatase-beta forming a phosphohistidine enzyme intermediate during catalysis
    Abhijit Ghosh
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10 Rm 9S241, Bethesda, MD 20892, USA
    J Biol Chem 279:12479-83. 2004
    ..Therefore Glc-6-Pase-alpha and Glc-6-Pase-beta share a similar active site structure, topology, and mechanism of action...
  53. ncbi request reprint Increased cellular cholesterol efflux in glycogen storage disease type Ia mice: a potential mechanism that protects against premature atherosclerosis
    Andrew D Nguyen
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room 9D42, NIH 9000, Rockville Pike, Bethesda, MD 20892, USA
    FEBS Lett 579:4713-8. 2005
    ..As the first step in reverse cholesterol transport, essential for cholesterol homeostasis, these observations provide one explanation why GSD-Ia patients are apparently protected against premature atherosclerosis...
  54. pmc Linkage of two human pregnancy-specific beta 1-glycoprotein genes: one is associated with hydatidiform mole
    K K Leslie
    Human Genetics Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 87:5822-6. 1990
    ..The coding region of PSG95 is identical to the previously reported cDNA clones PSG1d and FL-NCA, but PSG95 contains an additional 518 and 523 base pairs in the 3' end as compared with PSG1d and FL-NCA, respectively...
  55. ncbi request reprint The signature motif in human glucose-6-phosphate transporter is essential for microsomal transport of glucose-6-phosphate
    Chi Jiunn Pan
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, Building 10, Room 9S241, National Institutes of Health, Bethesda, MD 20892 1830, USA
    Hum Genet 112:430-3. 2003
    ..Five mutants lack microsomal G6P uptake activity and one retains residual activity, suggesting that in G6PT the signature motif is a functional element required for microsomal glucose-6-phosphate transport...
  56. ncbi request reprint Brain contains a functional glucose-6-phosphatase complex capable of endogenous glucose production
    Abhijit Ghosh
    Section on Cellular Differentiation, Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda, Maryland 20892 1830, USA
    J Biol Chem 280:11114-9. 2005
    ....
  57. ncbi request reprint The islet-specific glucose-6-phosphatase-related protein, implicated in diabetes, is a glycoprotein embedded in the endoplasmic reticulum membrane
    Jeng Jer Shieh
    Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, Building 10, Room 9S241, National Institutes of Health, Bethesda, MD 20892 1830, USA
    FEBS Lett 562:160-4. 2004
    ....
  58. ncbi request reprint Effect of fasting on methionine adenosyltransferase expression and the methionine cycle in the mouse liver
    Shigeko Fujimoto Sakata
    Faculty of Nutrition, Kobe Gakuin University, Kobe 651 2180, Japan
    J Nutr Sci Vitaminol (Tokyo) 51:118-23. 2005
    ..Regulation of supplementation of S-adenosylmethionine may occur in the fasting mouse because MAT I/III activity increases and the flow to glutathione is decreased...