(Q36725251)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18358695%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

title

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis (English)

1 reference

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4 January 2020

4

1 reference

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4 January 2020

Molly McCue

1

1 reference

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4 January 2020

James R. Mickelson

7

1 reference

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4 January 2020

2

Stephanie J Valberg

1 reference

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4 January 2020

author name string

Michael B Miller

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18358695%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Hasan O Akman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18358695%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

Salvatore DiMauro

5

1 reference

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4 January 2020

publication date

20 March 2008

1 reference

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4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18358695%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

volume

91

1 reference

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4 January 2020

issue

5

1 reference

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4 January 2020

page(s)

458-466

1 reference

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Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0

4 January 2020

cites work

1 reference

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Insulin sensitivity and skeletal muscle glucose transport in horses with equine polysaccharide storage myopathy

30 September 2017

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30 September 2017

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Crystal structure of glycogen synthase: homologous enzymes catalyze glycogen synthesis and degradation

30 September 2017

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30 September 2017

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30 September 2017

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Incidence of polysaccharide storage myopathy in draft horse-related breeds: a necropsy study of 37 horses and a mule

30 September 2017

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Hyperactive glycogen synthase mutants of Saccharomyces cerevisiae suppress the glc7-1 protein phosphatase mutant

30 September 2017

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Genome screens using linkage disequilibrium tests: optimal marker characteristics and feasibility

30 September 2017

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

30 September 2017

1 reference

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Rate-determining steps in the biosynthesis of glycogen in COS cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

Identification of Lys277 at the active site of Escherichia coli glycogen synthase. Application of affinity labeling combined with site-directed mutagenesis

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

Role of the conserved Lys-X-Gly-Gly sequence at the ADP-glucose-binding site in Escherichia coli glycogen synthase

30 September 2017

1 reference

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A new affinity labeling reagent for the active site of glycogen synthase. Uridine diphosphopyridoxal

30 September 2017

1 reference

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Polysaccharide storage myopathy associated with recurrent exertional rhabdomyolysis in horses

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

The ADP-glucose binding site of the Escherichia coli glycogen synthase.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

Prevalences and clinical signs of polysaccharide storage myopathy and shivers in Belgian draft horses

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

Incidence of polysaccharide storage myopathy: necropsy study of 225 horses

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

A high-resolution physical map of equine homologs of HSA19 shows divergent evolution compared with other mammals.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

Effects of submaximal exercise on adenine nucleotide concentrations in skeletal muscle fibers of horses with polysaccharide storage myopathy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

Mice with elevated muscle glycogen stores do not have improved exercise performance

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

The effect of varying dietary starch and fat content on serum creatine kinase activity and substrate availability in equine polysaccharide storage myopathy

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

The active site of the Escherichia coli glycogen synthase is similar to the active site of retaining GT-B glycosyltransferases.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

Glycogen synthase sensitivity to glucose-6-P is important for controlling glycogen accumulation in Saccharomyces cerevisiae

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

Identification and characterization of a critical region in the glycogen synthase from Escherichia coli

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2430182

Joint Bayesian estimation of mutation location and age using linkage disequilibrium.

5 September 2018

1 reference

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Developmental onset of polysaccharide storage myopathy in 4 Quarter Horse foals

5 September 2018

1 reference

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Mutations of muscle glycogen synthase that disable activation by glucose 6-phosphate

5 September 2018

1 reference

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Familial basis of exertional rhabdomyolysis in quarter horse-related breeds

5 September 2018

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Catalytic site of rabbit glycogen synthase isozymes. Identification of an active site lysine close to the amino terminus of the subunit.

5 September 2018

1 reference

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Skeletal muscle metabolic response to exercise in horses with 'tying-up' due to polysaccharide storage myopathy

5 September 2018

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Prevalence of polysaccharide storage myopathy in horses with neuromuscular disorders

7 January 2021

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Epidemiologic characteristics and management of polysaccharide storage myopathy in Quarter Horses

7 January 2021

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Polysaccharide storage myopathy in Morgan, Arabian, and Standardbred related horses and Welsh-cross ponies

7 January 2021

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Estimated prevalence of polysaccharide storage myopathy among overtly healthy Quarter Horses in the United States

7 January 2021

1 reference

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Biochemical and genetic evaluation of the role of AMP-activated protein kinase in polysaccharide storage myopathy in Quarter Horses

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.01.011

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.01.011

Identification of two essential glutamic acid residues in glycogen synthase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.01.011

Biochemistry and molecular genetics of human glycogenoses: an overview

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.01.011

A rapid filter paper assay for UDPglucose-glycogen glucosyltransferase, including an improved biosynthesis of UDP-14C-glucose

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YGENO.2008.01.011

Skeletal muscle glycolytic capacity and phosphofructokinase regulation in horses with polysaccharide storage myopathy

7 January 2021

1 reference

12 December 2020

Glucose uptake in horses with polysaccharide storage myopathy

1 reference

12 December 2020

Blood glucose clearance after feeding and exercise in polysaccharide storage myopathy

1 reference

12 December 2020

Regulation of glycogen synthase. Identification of residues involved in regulation by the allosteric ligand glucose-6-P and by phosphorylation

1 reference

12 December 2020

Identification of lysine 15 at the active site in Escherichia coli glycogen synthase. Conservation of Lys-X-Gly-Gly sequence in the bacterial and mammalian enzymes

1 reference

12 December 2020

Rabbit skeletal muscle glycogen synthase expressed in COS cells. Identification of regulatory phosphorylation sites

1 reference

12 December 2020

10.1016/J.YGENO.2008.01.011

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18358695%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18358695%20AND%20SRC:MED&resulttype=core&format=json

4 January 2020

1 reference