A transcriptomic approach to search for novel phenotypic regulators in McArdle disease. (Q34162933)

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23 January 2020

title

A transcriptomic approach to search for novel phenotypic regulators in McArdle disease (English)

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1

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23 January 2020

Joaquín Arenas

4

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23 January 2020

Yolanda Cámara

6

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23 January 2020

Carmen Fiuza-Luces

8

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23 January 2020

Miguel Angel Martín

10

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author name string

Inés Consuegra-García

2

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23 January 2020

Juan C Rubio

3

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23 January 2020

Marc Cuadros

5

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23 January 2020

Javier Torres-Torronteras

7

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23 January 2020

Alejandro Lucia

9

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23 January 2020

Elena García-Arumí

11

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23 January 2020

Antoni L Andreu

12

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language of work or name

English

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publication date

9 February 2012

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volume

7

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issue

2

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23 January 2020

page(s)

e31718

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Creative Commons Attribution 4.0 International

23 January 2020

copyright license

start time

9 February 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Sarcoplasmic reticulum-mitochondrial through-space coupling in skeletal muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

McArdle disease: what do neurologists need to know?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Skeletal muscle fatigue: cellular mechanisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

SERCA pump isoforms: their role in calcium transport and disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

A FUNCTIONAL DISORDER OF MUSCLE ASSOCIATED WITH THE ABSENCE OF PHOSPHORYLASE.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Glycogen branches out: new perspectives on the role of glycogen metabolism in the integration of metabolic pathways.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Quantification of the glycogen cascade system: the ultrasensitive responses of liver glycogen synthase and muscle phosphorylase are due to distinctive regulatory designs

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

The effect of oral sucrose on exercise tolerance in patients with McArdle's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Blue Native electrophoresis to study mitochondrial and other protein complexes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Myophosphorylase deficiency (glycogenosis type V; McArdle disease).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

The mutation of Pro789 to Leu reduces the activity of the fast-twitch skeletal muscle sarco(endo)plasmic reticulum Ca2+ ATPase (SERCA1) and is associated with Brody disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Reduced levels of skeletal muscle Na+K+ -ATPase in McArdle disease.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

New insights into the role and mechanism of glycogen synthase activation by insulin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Mutations in the gene-encoding SERCA1, the fast-twitch skeletal muscle sarcoplasmic reticulum Ca2+ ATPase, are associated with Brody disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Ca2+ uptake coupled to glycogen phosphorolysis in the glycogenolytic-sarcoplasmic reticulum complex from rat skeletal muscle

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Control of phosphorylase activity in a muscle glycogen particle. I. Isolation and characterization of the protein-glycogen complex.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Glycolysis preferentially inhibits ATP-sensitive K+ channels in isolated guinea pig cardiac myocytes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3276513

Permanent muscle weakness in McArdle disease.

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031718

Breakdown of adenine nucleotide pool in fatiguing skeletal muscle in McArdle's disease: a noninvasive 31P-MRS and EMG study

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031718

Decreased insulin action in skeletal muscle from patients with McArdle's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031718

Role of 5'AMP-activated protein kinase in glycogen synthase activity and glucose utilization: insights from patients with McArdle's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031718

Phenotype modulators in myophosphorylase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031718

Muscle glycogen inharmoniously regulates glycogen synthase activity, glucose uptake, and proximal insulin signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031718

Targeted disruption of the ATP2A1 gene encoding the sarco(endo)plasmic reticulum Ca2+ ATPase isoform 1 (SERCA1) impairs diaphragm function and is lethal in neonatal mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031718

Excessive skeletal muscle recruitment during strenuous exercise in McArdle patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0031718

Glycogen phosphorolysis can form a metabolic shuttle to support Ca2+ uptake by sarcoplasmic reticulum membranes in skeletal muscle

21 January 2018

1 reference

12 December 2020

Effect of Regional Fat Distribution and Prader-Willi Syndrome on Plasma Leptin Levels1

1 reference

12 December 2020

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA

1 reference

12 December 2020

Metabolic myopathies: evaluation by graded exercise testing

1 reference

12 December 2020

Modulation by phosphorylation of glycogen phosphorylase-sarcoplasmic reticulum interaction

1 reference

12 December 2020

Expression of the muscle glycogen phosphorylase gene in patients with McArdle disease: the role of nonsense-mediated mRNA decay

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0031718

Identifiers

DOI

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23 January 2020

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PubMed publication ID

22347505

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