An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line (Q28586418)

31 January 2017

title

An Ryr1I4895T mutation abolishes Ca2+ release channel function and delays development in homozygous offspring of a mutant mouse line (English)

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Ryanodine receptor 1, skeletal muscle

31 January 2017

main subject

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GOA release 2020-03-11

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Clara Franzini-Armstrong

11

object named as

Clara Franzini-Armstrong

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31 January 2017

13

J. G. Seidman

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31 January 2017

12

Christine E. Seidman

1 reference

31 January 2017

2

Frederic Depreux

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31 January 2017

1

Elena Zvaritch

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31 January 2017

3

Natasha Kraeva

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31 January 2017

8

Alexander Kraev

1 reference

31 January 2017

Ryan E. Loy

4

1 reference

31 January 2017

Sanjeewa A. Goonasekera

5

1 reference

31 January 2017

Simona Boncompagni

6

1 reference

31 January 2017

Simona Boncompagi

7

1 reference

31 January 2017

Anthony O. Gramolini

9

1 reference

31 January 2017

Robert T. Dirksen

10

1 reference

31 January 2017

David H. Maclennan

14

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31 January 2017

language of work or name

English

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publication date

20 November 2007

1 reference

Proceedings of the National Academy of Sciences of the United States of America

31 January 2017

published in

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31 January 2017

volume

104

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31 January 2017

issue

47

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31 January 2017

page(s)

18537–18542

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DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. II. DEVELOPMENTAL ANALYSIS

31 January 2017

cites work

1 reference

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DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. I. GENETIC ANALYSIS AND GROSS MORPHOLOGY

17 March 2017

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Muscle deficiency and neonatal death in mice with a targeted mutation in the myogenin gene

17 March 2017

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MyoD or Myf-5 is required for the formation of skeletal muscle

17 March 2017

1 reference

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Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

17 March 2017

1 reference

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Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

17 March 2017

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Characterization of recessive RYR1 mutations in core myopathies

9 May 2017

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Mutations in RYR1 in malignant hyperthermia and central core disease

29 September 2017

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The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Altered ryanodine receptor function in central core disease: leaky or uncoupled Ca(2+) release channels?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Reduction in intracellular calcium levels inhibits myoblast differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Expression of the ryanodine receptor isoforms in immune cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Functional effects of central core disease mutations in the cytoplasmic region of the skeletal muscle ryanodine receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Excitation--contraction uncoupling by a human central core disease mutation in the ryanodine receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Functional impact of the ryanodine receptor on the skeletal muscle L-type Ca(2+) channel

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Ryanodine receptors of striated muscles: a complex channel capable of multiple interactions

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Coordinated incorporation of skeletal muscle dihydropyridine receptors and ryanodine receptors in peripheral couplings of BC3H1 cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Control of calcium release in functioning skeletal muscle fibers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Abnormal junctions between surface membrane and sarcoplasmic reticulum in skeletal muscle with a mutation targeted to the ryanodine receptor

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Structural evidence for direct interaction between the molecular components of the transverse tubule/sarcoplasmic reticulum junction in skeletal muscle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Biochemistry and biophysics of excitation-contraction coupling

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Calcium signaling in the developing Xenopus myotome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Alternate disposition of tetrads in peripheral couplings of skeletal muscle.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Expression and cellular localization of a modified type 1 ryanodine receptor and L-type channel proteins in non-muscle cells

3 June 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Ryanodine receptors in muscarinic receptor-mediated bronchoconstriction

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Differential expression of ryanodine receptors in the rat cochlea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Dihydropyridine receptors and type 1 ryanodine receptors constitute the molecular machinery for voltage-induced Ca2+ release in nerve terminals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Protein-protein interactions in intracellular Ca2+-release channel function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Ca2+ release through ryanodine receptors regulates skeletal muscle L-type Ca2+ channel expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Intracellular calcium release channel expression during embryogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Developmental expression of the calcium release channels during early neurogenesis of the mouse cerebral cortex

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Type 1 ryanodine receptor in cardiac mitochondria: transducer of excitation-metabolism coupling

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

The block of ryanodine receptors selectively inhibits fetal myoblast differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse.

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.0709312104

Multiple ryanodine receptor subtypes and heterogeneous ryanodine receptor-gated Ca2+ stores in pulmonary arterial smooth muscle cells.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2141812

Junctional feet and particles in the triads of a fast-twitch muscle fibre

27 November 2018

1 reference

12 December 2020

Muscle fibers from dysgenic mouse in vivo lack a surface component of peripheral couplings

1 reference

12 December 2020

Development of the excitation-contraction coupling apparatus in skeletal muscle: association of sarcoplasmic reticulum and transverse tubules with myofibrils

1 reference

12 December 2020

Two regions of the ryanodine receptor involved in coupling with L-type Ca2+ channels

1 reference

12 December 2020

The II-III loop of the skeletal muscle dihydropyridine receptor is responsible for the Bi-directional coupling with the ryanodine receptor

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.0709312104

1 reference

ADS bibcode

2007PNAS..10418537Z

0 references

1 reference

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1 reference