Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy

No abstract is available for this paper.

• Publication year

  2010

• Venue

  Nature Reviews Endocrinology

• Publication date

  2010-12-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1038/nrendo.2010.189PMID 20975743PMCID PMC4178929
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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• A syndrome with congenital neutropenia and mutations in G6PC3.

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• Genetic Diseases of the Kidney

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• Living donor liver transplantation for glycogen storage disease type Ib

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• Liver transplantation for glycogen storage disease type Ia.

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• Emerging therapies for glycogen storage disease type I.

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• Renal function in glycogen storage disease type I, natural course, and renopreservative effects of ACE inhibition.

  2009cited by this paper
• Normoglycemia alone is insufficient to prevent long-term complications of hepatocellular adenoma in glycogen storage disease type Ib mice.

  2009cited by this paper
• A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia.

  2009cited by this paper
• Activation of glycolysis and apoptosis in glycogen storage disease type Ia.

  2009cited by this paper
• Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

  2008cited by this paper
• Necrotic foci, elevated chemokines and infiltrating neutrophils in the liver of glycogen storage disease type Ia.

  2008cited by this paper
• Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib.

  2008cited by this paper
• Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease type Ib.

  2008cited by this paper
• AAV vector-mediated reversal of hypoglycemia in canine and murine glycogen storage disease type Ia.

  2008cited by this paper
• Angiotensin mediates renal fibrosis in the nephropathy of glycogen storage disease type Ia.

  2008cited by this paper
• Mutations in the glucose‐6‐phosphatase‐α (G6PC) gene that cause type Ia glycogen storage disease

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• The glucose‐6‐phosphate transporter is a phosphate‐linked antiporter deficient in glycogen storage disease type Ib and Ic

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• Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease.

  2008cited by this paper
• Increased de novo Lipogenesis and Delayed Conversion of Large VLDL into Intermediate Density Lipoprotein Particles Contribute to Hyperlipidemia in Glycogen Storage Disease Type 1a

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• Bone marrow transplantation in glycogen storage disease type 1b.

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• Adalimumab for the treatment of Crohn-like colitis and enteritis in glycogen storage disease type Ib

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• Liver transplantation in children with glycogen storage disease: Controversies and evaluation of the risk/benefit of this procedure

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• Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I.

  2007cited by this paper
• Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European study on glycogen storage disease type 1

  2007cited by this paper
• Glucose-6-phosphate transporter gene therapy corrects metabolic and myeloid abnormalities in glycogen storage disease type Ib mice

  2007cited by this paper
• Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta.

  2007cited by this paper
• Long‐term results of living donor liver transplantation for glycogen storage disorders in children

  2007cited by this paper
• Improvements of hypertriglyceridemia and hyperlacticemia in Japanese children with glycogen storage disease type Ia by medium-chain triglyceride milk

  2007cited by this paper
• Efficacy of helper-dependent adenovirus vector-mediated gene therapy in murine glycogen storage disease type Ia.

  2007cited by this paper
• Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia.

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• Hepatocellular adenoma subtype classification using molecular markers and immunohistochemistry

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• Bone Marrow-derived Cells Require a Functional Glucose 6-Phosphate Transporter for Normal Myeloid Functions*

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• Long-term correction of murine glycogen storage disease type Ia by recombinant adeno-associated virus-1-mediated gene transfer

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• α2,3 and α2,6 N-Linked Sialic Acids Facilitate Efficient Binding and Transduction by Adeno-Associated Virus Types 1 and 6

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• The 37/67-Kilodalton Laminin Receptor Is a Receptor for Adeno-Associated Virus Serotypes 8, 2, 3, and 9

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• Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.

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• Alpha2,3 and alpha2,6 N-linked sialic acids facilitate efficient binding and transduction by adeno-associated virus types 1 and 6.

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• Early, sustained efficacy of adeno-associated virus vector-mediated gene therapy in glycogen storage disease type Ia

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• A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction

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• Genotype–phenotype correlation in hepatocellular adenoma: New classification and relationship with HCC

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• Defective neutrophil and monocyte functions in glycogen storage disease type Ib: A literature review

  2005cited by this paper
• Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group.

  2005cited by this paper
• Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

  2005cited by this paper
• Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

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• Glycogen storage disease I and hepatocellular tumours

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• Efficacy of ACE‐inhibitor therapy on renal disease in glycogen storage disease type 1: a multicentre retrospective study

  2005cited by this paper
• Transforming growth factor-beta in renal disease with glycogen storage disease I.

  2004cited by this paper
• Histidine 167 Is the Phosphate Acceptor in Glucose-6-phosphatase-β Forming a Phosphohistidine Enzyme Intermediate during Catalysis*

  2004cited by this paper
• Glycogen storage disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.

  2004cited by this paper
• Transforming growth factor-β in renal disease with glycogen storage disease I

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• Identification and characterisation of a new human glucose‐6‐phosphatase isoform

  2003cited by this paper
• Impaired glucose homeostasis, neutrophil trafficking and function in mice lacking the glucose-6-phosphate transporter.

  2003cited by this paper
• A Glucose-6-phosphate Hydrolase, Widely Expressed Outside the Liver, Can Explain Age-dependent Resolution of Hypoglycemia in Glycogen Storage Disease Type Ia*

  2003cited by this paper
• Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).

  2003cited by this paper
• Membrane Transporter Diseases

  2003cited by this paper
• Glucose-6-phosphate transporter: the key to glycogen storage disease type Ib

  2003cited by this paper
• Effect of continuous glucose therapy with uncooked cornstarch on the long-term clinical course of type 1a glycogen storage disease

  2002cited by this paper
• Glycogen storage disease type I: indications for liver and/or kidney transplantation

  2002cited by this paper
• Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease.

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• Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex.

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• Lactate-induced translocation of GLUT1 and GLUT4 is not mediated by the phosphatidylinositol-3-kinase pathway in the rat heart

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• Identification and characterization of a human cDNA and gene encoding a ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein.

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• Canine Model and Genomic Structural Organization of Glycogen Storage Disease Type Ia (GSD Ia)

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• Recombinant human granulocyte colony-stimulating factor therapy for patients with neutropenia and/or neutrophil dysfunction secondary to glycogen storage disease type 1b.

  2001cited by this paper
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  2001cited by this paper
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• Glucose-6-Phosphatase Mutation G188R Confers an Atypical Glycogen Storage Disease Type 1b Phenotype

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• Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flowchart

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• Neutropenia, neutrophil dysfunction, and inflammatory bowel disease in glycogen storage disease type Ib: results of the European Study on Glycogen Storage Disease type I.

  2000cited by this paper
• Heterogeneous mutations in the glucose-6-phosphatase gene in Japanese patients with glycogen storage disease type Ia.

  2000cited by this paper
• Correction of Glycogen Storage Disease Type 1a in a Mouse Model by Gene Therapy*

  2000cited by this paper
• Structural Requirements for the Stability and Microsomal Transport Activity of the Human Glucose 6-Phosphate Transporter*

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• Mutation analysis in glycogen storage disease type 1 non-a

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• A Convenient Diagnostic Function Test of Peripheral Blood Neutrophils in Glycogen Storage Disease Type Ib

  1999cited by this paper
• Mutations in the glucose‐6‐phosphate transporter (G6PT) gene in patients with glycogen storage diseases type 1b and 1c

  1999cited by this paper
• Enzymatic characterization of four new mutations in the glucose‐6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a

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• The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a

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• Transmembrane Topology of Human Glucose 6-Phosphate Transporter*

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