Research Topics
Genomes and Genes | Janice Y ChouSummaryAffiliation: National Institutes of Health Country: USA Publications
| Collaborators
|
Detail Information
Publications
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage diseaseJanice 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...
Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapyJanice 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..This Review will address the etiology of GSD-Ia, GSD-Ib and G6Pase-β deficiency and highlight advances in diagnosis and new treatment approaches, including gene therapy...- The SLC37 family of phosphate-linked sugar phosphate antiportersJanice 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
Mol Aspects Med 34:601-11. 2013..Since only G6PT matches the characteristics of the physiological ER G6P transporter involved in blood glucose homeostasis and neutrophil energy metabolism, the biological roles for the other SLC37 proteins remain to be determined... - Neutropenia in type Ib glycogen storage diseaseJanice 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..However, the basis for neutropenia and neutrophil dysfunction in glycogen storage disease type Ib is poorly understood. Recent studies that are now starting to unveil the mechanisms are presented in this review... - Recombinant AAV-directed gene therapy for type I glycogen storage diseasesJanice Y Chou
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, Bethesda, MD 20892 1830, USA
Expert Opin Biol Ther 11:1011-24. 2011..An understanding of the strengths and weaknesses of rAAV vectors in the context of strategies to achieve efficient transduction of the liver, kidney and hematopoietic stem cells is required for treating GSD-I... - Gene therapy for type I glycogen storage diseasesJanice 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..Taken together further refinements in gene therapy may hold long term benefits for the treatment of type I GSD disorders... - Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib miceWai 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..This study was conducted to evaluate whether maintaining normoglycemia in GSD-Ib could prevent HCA... - Prevention of hepatocellular adenoma and correction of metabolic abnormalities in murine glycogen storage disease type Ia by gene therapyYoung Mok Lee
Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA
Hepatology 56:1719-29. 2012..Conclusion: These results confirm that AAV-GPE-mediated gene transfer corrects hepatic G6Pase-α deficiency in murine GSD-Ia and prevents chronic HCA formation... - SLC37A1 and SLC37A2 are phosphate-linked, glucose-6-phosphate antiportersChi 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..However, only G6PT/SLC37A4 matches the characteristics of the physiological ER G6P transporter, suggesting the other SLC37 proteins have roles independent of blood glucose homeostasis... - Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndromeHyun Sik Jun
Section on Cellular Differentiation, Program on Developmental Endocrinology and Genetics, National Institute of Child Health and Human Development, National Institutes of Health NIH, Bethesda, MD, USA
Blood 116:2783-92. 2010..The results establish that in nonapoptotic neutrophils, G6Pase-β is essential for normal energy homeostasis. A G6Pase-β deficiency prevents recycling of ER glucose to the cytoplasm, leading to neutrophil dysfunction... - Glucose-6-phosphatase-β, implicated in a congenital neutropenia syndrome, is essential for macrophage energy homeostasis and functionalityHyun 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 20892, USA
Blood 119:4047-55. 2012..Together these results show that immune deficiencies in this congenital neutropenia syndrome extend beyond neutrophil dysfunction... - Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexisDavid H McDermott
Laboratory of Molecular Immunology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
Blood 116:2793-802. 2010..Thus, myelokathexis associated with abnormally high neutrophil CXCR4 expression may contribute to neutropenia in G6PC3 deficiency and responds well to granulocyte colony-stimulating factor... - Complete normalization of hepatic G6PC deficiency in murine glycogen storage disease type Ia using gene therapyWai 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..The complete normalization of hepatic G6Pase-alpha deficiency by the G6PC promoter/enhancer holds promise for the future of gene therapy in human GSD-Ia patients... - Generation of mice with a conditional allele for G6pcWen 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..This G6pc conditional null allele will be valuable to examine the consequence of tissue-specific G6Pase-alpha deficiency and the mechanisms of long-term complications in GSD-Ia... - Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type IbShih 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..However, the p.Q133P mutation exhibits differential G6P and P(i) transport activities, suggesting that characterizing G6P and P(i) transport activities of G6PT mutations may yield insights to this genetic disorder... - Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type IbSo 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..The results demonstrate that G6P translocation and hydrolysis are required for normal neutrophil functions and support the hypothesis that neutrophil dysfunction in GSD-Ib is due, at least in part, to ER stress and increased apoptosis... - Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type IbChi 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..Furthermore, glycosylation scanning and protease sensitivity assays showed that the 10-domain model of G6PT is more probable than the 12-domain UhpT-like model... - Oxidative stress mediates nephropathy in type Ia glycogen storage diseaseWai 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, MD, USA
Lab Invest 90:620-9. 2010..These data provide the first evidence that oxidative stress is one mechanism that underlies GSD-Ia nephropathy... - G-CSF improves murine G6PC3-deficient neutrophil function by modulating apoptosis and energy homeostasisHyun Sik Jun
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, 10 Center Drive, Bethesda, MD 20892, USA
Blood 117:3881-92. 2011..Together, the results strongly suggest that G-CSF improves G6pc3(-/-) neutrophil survival by modulating apoptotic mediators and rectifies function by enhancing energy homeostasis... - Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type IaSo Youn Kim
Section on Cellular Differentiation, National Institute of Child Health and Human Development, NIH, Bethesda, MD 20892 1830, USA
J Hepatol 48:479-85. 2008..This study was conducted to evaluate whether human GSD-Ia patients exhibit analogous increases and whether in GSD-Ia mice a correlation exists between immune abnormalities and, biochemical and histological alterations in the liver... - The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and IcShih 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..Taken together, our results suggest that G6PT has a dual role as a G6P and a P(i) transporter and that GSD-Ib and GSD-Ic are deficient in the same G6PT gene... - Neutrophilia and elevated serum cytokines are implicated in glycogen storage disease type IaSo Youn Kim
Section on Cellular Differentiation, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892 1830, USA
FEBS Lett 581:3833-8. 2007..Taken together, our results suggest that a loss of glucose homeostasis can compromise the immune system, resulting in neutrophilia. This may explain some of the unexpected clinical manifestations seen in GSD-Ia... - Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-betaYuk 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..Our results define a molecular pathway to neutropenia and neutrophil dysfunction of previously unknown etiology, providing a potential model for the treatment of these conditions... 
Increased scavenger receptor class B type I-mediated cellular cholesterol efflux and antioxidant capacity in the sera of glycogen storage disease type Ia patientsAndrew D Nguyen
Section on Cellular Differentiation, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Mol Genet Metab 89:233-8. 2006..Taken together, the results suggest that the increase in SR-BI-mediated cellular cholesterol efflux and antioxidant capacity in the sera of GSD-Ia patients may contribute to protection against premature atherosclerosis...- 11beta-Hydroxysteroid Dehydrogenase Type 1 Regulation by Intracellular Glucose 6-Phosphate Provides Evidence for a Novel Link between Glucose Metabolism and Hypothalamo-Pituitary-Adrenal Axis FunctionElizabeth A Walker
Endocrinology, Division of Medical Sciences and Biological Sciences, University of Birmingham, Edgbaston, Birmingham, United Kingdom
J Biol Chem 282:27030-6. 2007..The cellular trafficking of G6P therefore directly regulates 11beta-HSD1 reductase activity and provides a novel link between glucose metabolism and function of the hypothalamo-pituitary-adrenal axis... - Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stabilityCelia J Angaroni
Centro de Estudio de las Metabolopatias Congenitas, CEMECO, Catedra de Clinica Pediatrica, Facultad de Ciencias Medicas, Universidad Nacional de Cordoba, Hospital de Niños de la Santísima Trinidad, Cordoba, Argentina
Mol Genet Metab 83:276-9. 2004..Site-directed mutagenesis and transient expression assays demonstrated that both p.Thr16Arg and p.Tyr209Cys mutations abolished enzymatic activity as well as reduced G6Pase stability...