Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease. (Q43230362)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19959526%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

title

Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease (English)

1 reference

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13 February 2020

1 reference

Gaelle Douillard-Guilloux

1

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13 February 2020

Nina Raben

2

1 reference

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13 February 2020

Shoichi Takikita

3

1 reference

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13 February 2020

Arnaud Ferry

4

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13 February 2020

Alban Vignaud

5

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13 February 2020

Isabelle Guillet-Deniau

6

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13 February 2020

Maryline Favier

7

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13 February 2020

Beth L Thurberg

8

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13 February 2020

Peter J Roach

9

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13 February 2020

Catherine Caillaud

10

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13 February 2020

Emmanuel Richard

11

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13 February 2020

publication date

3 December 2009

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13 February 2020

published in

Human Molecular Genetics

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13 February 2020

volume

19

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13 February 2020

issue

4

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13 February 2020

page(s)

684-696

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Pompe disease diagnosis and management guideline.

13 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Enzyme replacement therapy in the mouse model of Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Glycogen storage disease types I and II: treatment updates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Enzyme therapy for Pompe disease: from science to industrial enterprise

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Modulation of glycogen synthesis by RNA interference: towards a new therapeutic approach for glycogenosis type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Abnormal cardiac development in the absence of heart glycogen

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Glucose metabolism in mice lacking muscle glycogen synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Exercise capacity of mice genetically lacking muscle glycogen synthase: in mice, muscle glycogen is not essential for exercise

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Increased glycogen accumulation in transgenic mice overexpressing glycogen synthase in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Overexpression of glycogen synthase in mouse muscle results in less branched glycogen

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Direct observation of glycogen synthesis in human muscle with 13C NMR

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Redistribution of substrates to adipose tissue promotes obesity in mice with selective insulin resistance in muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Targeted disruption of the glucose transporter 4 selectively in muscle causes insulin resistance and glucose intolerance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Glucose toxicity and the development of diabetes in mice with muscle-specific inactivation of GLUT4

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Tissue glycogen content and glucose intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Role of carbohydrate in physical activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Neural deficits contribute to respiratory insufficiency in Pompe disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Oral maintenance clinical trial with miglustat for type I Gaucher disease: switch from or combination with intravenous enzyme replacement.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

Genetic inactivation of acetylcholinesterase causes functional and structural impairment of mouse soleus muscles

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP535

A muscle-specific insulin receptor knockout exhibits features of the metabolic syndrome of NIDDM without altering glucose tolerance

21 January 2018

1 reference

12 December 2020

High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology

1 reference

12 December 2020

The effect of insulin on the disposal of intravenous glucose. Results from indirect calorimetry and hepatic and femoral venous catheterization

1 reference

12 December 2020

Surprises of genetic engineering: a possible model of polyglucosan body disease

1 reference

12 December 2020

Developmental expression of the tissue insulin-like growth factor II/mannose 6-phosphate receptor in the rat. Measurement by quantitative immunoblotting.

1 reference

12 December 2020

Expression of the insulin-like growth factor-II/mannose-6-phosphate receptor in multiple human tissues during fetal life and early infancy

1 reference

12 December 2020

Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency

1 reference

12 December 2020

Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

1 reference

12 December 2020

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial

1 reference

12 December 2020

Diet, Muscle Glycogen and Physical Performance

1 reference

12 December 2020

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease

1 reference

12 December 2020

Role of autophagy in the pathogenesis of Pompe disease.

1 reference

12 December 2020

Expression and cellular localization of glucose transporters (GLUT1, GLUT3, GLUT4) during differentiation of myogenic cells isolated from rat foetuses

1 reference

12 December 2020

Diet, muscle glycogen, and endurance performance

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDP535

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19959526%20AND%20SRC:MED&resulttype=core&format=json

release_t2kmtzjnabcmnfj7cpr6pprgy4

13 February 2020

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/t2kmtzjnabcmnfj7cpr6pprgy4

24 November 2022

mapped directly with Wikidata item

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19959526%20AND%20SRC:MED&resulttype=core&format=json

13 February 2020

1 reference