G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction (Q24621013)

Edgar Pick

16

0 references

Anthony Segal

Anthony W Segal

21

0 references

Rosemary Gale

18

Rosemary E Gale

0 references

David C Linch

17

David C Linch

0 references

Aristotelis Antonopoulos

2

Aristotelis Antonopoulos

0 references

author name string

Bu'hussain Hayee

1

0 references

Emma J Murphy

3

0 references

Farooq Z Rahman

4

0 references

Gavin Sewell

5

0 references

Bradley N Smith

6

0 references

Sara McCartney

7

0 references

Mark Furman

8

0 references

Georgina Hall

9

0 references

Stuart L Bloom

10

0 references

Stuart M Haslam

11

0 references

Howard R Morris

12

0 references

Kaan Boztug

13

0 references

Christoph Klein

14

0 references

Bryan Winchester

15

0 references

Andrew M Smith

A syndrome with congenital neutropenia and mutations in G6PC3

19

0 references

language of work or name

English

0 references

publication date

July 2011

0 references

published in

Glycobiology

0 references

volume

21

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issue

7

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page(s)

914-24

0 references

cites work

1 reference

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A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

7 April 2017

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The gene for glycogen-storage disease type 1b maps to chromosome 11q23.

7 April 2017

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Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a

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Enzymatic characterization of the pancreatic islet-specific glucose-6-phosphatase-related protein (IGRP)

7 April 2017

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

7 April 2017

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7 April 2017

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7 April 2017

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Cloning and characterization of the human and rat islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) genes

7 April 2017

1 reference

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7 April 2017

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Glucose-6-phosphatase dependent substrate transport in the glycogen storage disease type-1a mouse

7 April 2017

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Identification and characterisation of a new human glucose-6-phosphatase isoform

7 April 2017

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Molecular cloning of a pancreatic islet-specific glucose-6-phosphatase catalytic subunit-related protein

7 April 2017

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NOX enzymes and the biology of reactive oxygen

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Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis

7 April 2017

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Novel genetic etiologies of severe congenital neutropenia

27 September 2017

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Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease

27 September 2017

1 reference

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The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review

27 September 2017

1 reference

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Structural characterisation of neutrophil glycans by ultra sensitive mass spectrometric glycomics methodology

27 September 2017

1 reference

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Regulation of P2X4 receptors by lysosomal targeting, glycan protection and exocytosis

27 September 2017

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Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta

27 September 2017

1 reference

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Glycomic profiling of cells and tissues by mass spectrometry: fingerprinting and sequencing methodologies

27 September 2017

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Mass spectrometric analysis of N- and O-glycosylation of tissues and cells

27 September 2017

1 reference

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Altered glycan structures: the molecular basis of congenital disorders of glycosylation

27 September 2017

1 reference

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A brain-liver circuit regulates glucose homeostasis

27 September 2017

1 reference

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Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature

27 September 2017

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A novel role for glucose 6-phosphatase in the small intestine in the control of glucose homeostasis.

27 September 2017

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Promyelocytic HL60 cells express NADPH oxidase and are excellent targets in a rapid spectrophotometric microplate assay for extracellular superoxide

27 September 2017

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

27 September 2017

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Protein glycosylation: nature, distribution, enzymatic formation, and disease implications of glycopeptide bonds

27 September 2017

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Respiratory burst in human neutrophils

27 September 2017

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Biosynthesis of flavocytochrome b558 . gp91(phox) is synthesized as a 65-kDa precursor (p65) in the endoplasmic reticulum.

27 September 2017

1 reference

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Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes.

27 September 2017

1 reference

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Development of cytochrome b and an active oxidase system in association with maturation of a human promyelocytic (HL-60) cell line

27 September 2017

1 reference

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Studies of the Metabolic Activity of Leukocytes from Patients with a Genetic Abnormality of Phagocytic Function*

27 September 2017

1 reference

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Impaired carbohydrate metabolism of polymorphonuclear leukocytes in glycogen storage disease Ib.

27 September 2017

1 reference

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New knowledge regarding glucose-6 phosphatase gene and protein and their roles in the regulation of glucose metabolism

27 September 2017

1 reference

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Analysis of glycosylation sites on gp91phox, the flavocytochrome of the NADPH oxidase, by site-directed mutagenesis and translation in vitro

27 September 2017

1 reference

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Human erythrocyte membrane glycoprotein: a re-evaluation of the molecular weight as determined by SDS polyacrylamide gel electrophoresis

30 May 2018

1 reference

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Asparagine-linked glycosylation of cytochrome b558 large subunit varies in different human phagocytic cells.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110488

Cytochrome b-245 from human neutrophils is a glycoprotein

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110488

Impaired macrophage function following bacterial stimulation in chronic granulomatous disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110488

Maintenance of luminal NADPH in the endoplasmic reticulum promotes the survival of human neutrophil granulocytes

28 November 2018

1 reference

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Cell-free assays: the reductionist approach to the study of NADPH oxidase assembly, or "all you wanted to know about cell-free assays but did not dare to ask".

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110488

Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110488

Inhibition of microsomal glucose-6-phosphate transport in human neutrophils results in apoptosis: a potential explanation for neutrophil dysfunction in glycogen storage disease type 1b.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110488

The glucose-6 phosphatase gene is expressed in human and rat small intestine: regulation of expression in fasted and diabetic rats.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110488

Phagocytosis stimulates alternative glycosylation of macrosialin (mouse CD68), a macrophage-specific endosomal protein

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110488

Glucose-6-phosphatase mRNA and activity are increased to the same extent in kidney and liver of diabetic rats.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110488

GlycoWorkbench: a tool for the computer-assisted annotation of mass spectra of glycans

28 November 2018

1 reference

12 December 2020

A novel G6PC3 homozygous 1-bp deletion as a cause of severe congenital neutropenia

1 reference

12 December 2020

Processing and Maturation of Flavocytochromeb558Include Incorporation of Heme as a Prerequisite for Heterodimer Assembly

1 reference

12 December 2020

Regulation of glycogen metabolism in polymorphonuclear leukocytes

1 reference

12 December 2020

Type Ib glycogen storage disease is caused by a defect in the glucose-6-phosphate translocase of the microsomal glucose-6-phosphatase system

1 reference

12 December 2020

Neutrophil metabolic dysfunction in genetically heterogeneous patients with glycogen storage disease type 1b

1 reference

12 December 2020

Hexose uptake and transport in polymorphonuclear leukocytes from patients with glycogen storage disease Ib

1 reference

12 December 2020

Characterization of the murine heat-stable antigen: An hematolymphoid differentiation antigen defined by the J11d, M1/69 and B2A2 antibodies

1 reference

12 December 2020

release_ltpouzmffzc7bbqmf3im2d5jk4

Identifiers

DOI

10.1093/GLYCOB/CWR023

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/ltpouzmffzc7bbqmf3im2d5jk4

24 November 2022