Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution (Q34973567)

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27 February 2020

title

Altered Ca2+ kinetics associated with α-actinin-3 deficiency may explain positive selection for ACTN3 null allele in human evolution (English)

1 reference

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27 February 2020

1 reference

GOA release 2020-03-11

negative regulation of cold-induced thermogenesis

1 reference

GOA release 2020-03-11

Actinin alpha 3

1 reference

GOA release 2020-03-11

author

Peter Houweling

3

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27 February 2020

Kate G Quinlan

4

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27 February 2020

Robyn M. Murphy

5

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27 February 2020

Oliver Friedrich

7

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27 February 2020

Kathryn North

8

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27 February 2020

author name string

Stewart I Head

1

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27 February 2020

Stephen Chan

2

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27 February 2020

Sören Wagner

6

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27 February 2020

publication date

15 January 2015

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27 February 2020

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27 February 2020

volume

11

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27 February 2020

issue

2

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27 February 2020

page(s)

e1004862

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Creative Commons Attribution 4.0 International

27 February 2020

copyright license

start time

15 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Myoplasmic resting Ca2+ regulation by ryanodine receptors is under the control of a novel Ca2+-binding region of the receptor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

ACTN3 genotype influences muscle performance through the regulation of calcineurin signaling.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

ACTN3 allele frequency in humans covaries with global latitudinal gradient

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

The ACTN3 R577X polymorphism across three groups of elite male European athletes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

A systematic survey of loss-of-function variants in human protein-coding genes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Fiber types in mammalian skeletal muscles

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Increased fatigue resistance linked to Ca2+-stimulated mitochondrial biogenesis in muscle fibres of cold-acclimated mice

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

MICU1 encodes a mitochondrial EF hand protein required for Ca(2+) uptake

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Are biological sensors modulated by their structural scaffolds? The role of the structural muscle proteins alpha-actinin-2 and alpha-actinin-3 as modulators of biological sensors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Calsequestrin content and SERCA determine normal and maximal Ca2+ storage levels in sarcoplasmic reticulum of fast- and slow-twitch fibres of rat

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

ACTN3 genotype is associated with muscle phenotypes in women across the adult age span

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Alpha-actinin structure and regulation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Unloaded speed of shortening in voltage-clamped intact skeletal muscle fibers from wt, mdx, and transgenic minidystrophin mice using a novel high-speed acquisition system.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Remodeling of ryanodine receptor complex causes "leaky" channels: a molecular mechanism for decreased exercise capacity

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Skeletal muscle fatigue: cellular mechanisms

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Impaired calcium release during fatigue.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

The ACTN3 gene in elite Greek track and field athletes.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Mitochondrial DNA and ACTN3 genotypes in Finnish elite endurance and sprint athletes

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Impaired Ca2+ store functions in skeletal and cardiac muscle cells from sarcalumenin-deficient mice.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

ACTN3 genotype is associated with human elite athletic performance

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Effects of ADP on sarcoplasmic reticulum function in mechanically skinned skeletal muscle fibres of the rat

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

A calcineurin-dependent transcriptional pathway controls skeletal muscle fiber type

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Ca2+ levels in myotubes grown from the skeletal muscle of dystrophic (mdx) and normal mice.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

A new generation of Ca2+ indicators with greatly improved fluorescence properties

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Properties of enzymatically isolated skeletal fibres from mice with muscular dystrophy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

Decline of myoplasmic Ca2+, recovery of calcium release and sarcoplasmic Ca2+ pump properties in frog skeletal muscle

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4295894

ACTN3 R577X polymorphism and Israeli top-level athletes.

8 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004862

α-Actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004862

The effect of α-actinin-3 deficiency on muscle aging.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004862

Properties of extensor digitorum longus muscle and skinned fibers from adult and aged male and female Actn3 knockout mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004862

Different fibre populations distinguished by their calcium transient characteristics in enzymatically dissociated murine flexor digitorum brevis and soleus muscles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004862

Calcineurin Regulates Skeletal Muscle Metabolism via Coordinated Changes in Gene Expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1004862

Regulation of steady state filling in sarcoplasmic reticulum. Roles of back-inhibition, leakage, and slippage of the calcium pump

21 January 2018

1 reference

12 December 2020

Critical evaluation of cytosolic calcium determination in resting muscle fibres from normal and dystrophic (mdx) mice

1 reference

12 December 2020

Membrane potential, resting calcium and calcium transients in isolated muscle fibres from normal and dystrophic mice

1 reference

12 December 2020

The role of sarcoplasmic reticulum in relaxation of mouse muscle; effects of 2,5-di(tert-butyl)-1,4-benzohydroquinone

1 reference

12 December 2020

The effects of caffeine on intracellular calcium, force and the rate of relaxation of mouse skeletal muscle

1 reference

12 December 2020

Time course of calcium transients derived from Fura-2 fluorescence measurements in single fast twitch fibres of adult mice and rat myotubes developing in primary culture

1 reference

12 December 2020

Matching of sarcoplasmic reticulum and contractile properties in rat fast- and slow-twitch muscle fibres

1 reference

12 December 2020

ACTN3 (R577X) genotype is associated with fiber type distribution

1 reference

12 December 2020

Association of the ACTN3 R577X polymorphism with power athlete status in Russians

1 reference

12 December 2020

Validation of an automated computational method for skeletal muscle fibre morphometry analysis

1 reference

12 December 2020

Sarcoplasmic reticulum Ca2+ uptake and leak properties, and SERCA isoform expression, in type I and type II fibres of human skeletal muscle

1 reference

12 December 2020

10.1371/JOURNAL.PGEN.1004862

Identifiers

DOI

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27 February 2020

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27 February 2020

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