A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. (Q24539236)

6 July 2017

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

1 reference

6 July 2017

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13

M Vikkula

M

Vikkula

1 reference

6 July 2017

C Dionisi-Vici

6

C

Dionisi-Vici

1 reference

20 October 2023

M Veiga-da-Cunha

1

M

Veiga-da-Cunha

1 reference

6 July 2017

I Gerin

2

I

Gerin

1 reference

6 July 2017

Y T Chen

3

Y T

Chen

1 reference

6 July 2017

T de Barsy

4

T

de Barsy

1 reference

6 July 2017

P de Lonlay

5

P

de Lonlay

1 reference

6 July 2017

C D Fenske

7

C D

Fenske

1 reference

6 July 2017

P J Lee

8

P J

Lee

1 reference

6 July 2017

J V Leonard

9

J V

Leonard

1 reference

6 July 2017

I Maire

10

I

Maire

1 reference

6 July 2017

A McConkie-Rosell

11

A

McConkie-Rosell

1 reference

6 July 2017

S Schweitzer

12

S

Schweitzer

1 reference

6 July 2017

E Van Schaftingen

14

E

Van Schaftingen

1 reference

6 July 2017

language of work or name

English

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publication date

1 October 1998

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

63

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6 July 2017

976-983

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6 July 2017

4

1 reference

Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

A new variant of glycogen storage disease Type I probably due to a defect in the glucose-6-phosphate transport system

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Identification of a consensus motif for retention of transmembrane proteins in the endoplasmic reticulum

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Anion-exchange mechanisms in bacteria.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Cloning and expression of a hepatic microsomal glucose transport protein. Comparison with liver plasma-membrane glucose-transport protein GLUT 2

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

On the involvement of a glucose 6-phosphate transport system in the function of microsomal glucose 6-phosphatase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Different development changes in latency for two functions of a single membrane bound enzyme Glusoce-6-phophatase activities as a function of age

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Intramembraneous localization of rat liver microsomal hexose-6-phosphate dehydrogenase and membrane permeability to its substrates

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Identification and characterization of a hepatic microsomal glucose transport protein. T3 of the glucose-6-phosphatase system?

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Rapid kinetics of liver microsomal glucose-6-phosphatase. Evidence for tight-coupling between glucose-6-phosphate transport and phosphohydrolase activity.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

A re-evaluation of GLUT 7.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Direct evidence for the involvement of two glucose 6-phosphate-binding sites in the glucose-6-phosphatase activity of intact liver microsomes. Characterization of T1, the microsomal glucose 6-phosphate transport protein by a direct binding assay.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

Evidence for the participation of independent translocation for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system. Interactions of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377500

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

29 November 2018

1 reference

12 December 2020

Type Ic, a novel glycogenosis. Underlying mechanism

1 reference

12 December 2020

Evidence for changes in the conformational status of rat liver microsomal glucose-6-phosphate:phosphohydrolase during detergent-dependent membrane modification. Effect of p-mercuribenzoate and organomercurial agarose gel on glucose-6-phosphatase of

1 reference

12 December 2020

Chlorogenic acid analogue S 3483: a potent competitive inhibitor of the hepatic and renal glucose-6-phosphatase systems

1 reference

12 December 2020

[The hexose-phosphatase system. III. Intracellular localization of enzymes by fractional centrifugation]

1 reference

12 December 2020

The ontogeny of human hepatic microsomal glucose-6-phosphatase proteins

1 reference

12 December 2020

Glucose transport and glucose 6-phosphate hydrolysis in intact rat liver microsomes

1 reference

12 December 2020

Multiple transport protein defects in a patient with glycogen storage disease type 1: GSD 1b/1c beta

1 reference

12 December 2020

Liver microsomal transport of glucose-6-phosphate, glucose, and phosphate in type 1 glycogen storage disease

1 reference

12 December 2020

Evidence for a membrane exchangeable glucose pool in the functioning of rat liver glucose-6-phosphatase

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302068

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302068

1 reference

release_x3fm4wi6qfh57gdl6uonakuxey

6 July 2017

0 references

OpenCitations bibliographic resource ID

1594378

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

6 July 2017

1 reference