(Q34207240)

31 July 2017

title

Single channel properties of heterotetrameric mutant RyR1 ion channels linked to core myopathies (English)

1 reference

31 July 2017

Le Xu

1

1 reference

31 July 2017

Ying Wang

2

1 reference

31 July 2017

Naohiro Yamaguchi

3

1 reference

31 July 2017

Daniel A Pasek

4

1 reference

31 July 2017

Gerhard Meissner

5

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 January 2008

1 reference

Journal of Biological Chemistry

31 July 2017

published in

1 reference

31 July 2017

volume

283

1 reference

31 July 2017

issue

10

1 reference

31 July 2017

page(s)

6321-6329

1 reference

Functional effects of mutations identified in patients with multiminicore disease

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Characterization of recessive RYR1 mutations in core myopathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Mutations in RYR1 in malignant hyperthermia and central core 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=2956488

(De)constructing the ryanodine receptor: modeling ion permeation and selectivity of the calcium release channel.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Knocking down type 2 but not type 1 calsequestrin reduces calcium sequestration and release in C2C12 skeletal muscle myotubes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Two rings of negative charges in the cytosolic vestibule of type-1 ryanodine receptor modulate ion fluxes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

The pore structure of the closed RyR1 channel

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Internal structure and visualization of transmembrane domains of the RyR1 calcium release channel by cryo-EM.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Probing the role of negatively charged amino acid residues in ion permeation of skeletal muscle ryanodine receptor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Central core disease mutations R4892W, I4897T and G4898E in the ryanodine receptor isoform 1 reduce the Ca2+ sensitivity and amplitude of Ca2+-dependent Ca2+ release

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

The Predicted TM10 Transmembrane Sequence of the Cardiac Ca2+ Release Channel (Ryanodine Receptor) Is Crucial for Channel Activation and Gating

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

The pore region of the skeletal muscle ryanodine receptor is a primary locus for excitation-contraction uncoupling in central core 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=2956488

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Regulation of mammalian ryanodine receptors

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Ryanodine receptor calcium release channels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Isoform-dependent formation of heteromeric Ca2+ release channels (ryanodine receptors).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

The open pore conformation of potassium channels

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Evidence for a role of the lumenal M3-M4 loop in skeletal muscle Ca(2+) release channel (ryanodine receptor) activity and conductance

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Ryanodine receptor mutations in malignant hyperthermia and central core 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=2956488

Molecular identification of the ryanodine receptor pore-forming segment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

The pharmacology of ryanodine and related compounds.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Primary structure and expression from complementary DNA of skeletal muscle ryanodine receptor.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2956488

Voltage sensor of excitation-contraction 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=2956488

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

5 July 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M707353200

Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M707353200

Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M707353200

Excitation-contraction coupling in airway smooth muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M707353200

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M707353200

Residue Gln4863 within a predicted transmembrane sequence of the Ca2+ release channel (ryanodine receptor) is critical for ryanodine interaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M707353200

Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M707353200

Ruthenium red modifies the cardiac and skeletal muscle Ca(2+) release channels (ryanodine receptors) by multiple mechanisms

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18171678

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The ryanodine receptor-Ca2+ release channel complex of skeletal muscle sarcoplasmic reticulum. Evidence for a cooperatively coupled, negatively charged homotetramer

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18171678

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Reconstitution of the skeletal muscle ryanodine receptor-Ca2+ release channel protein complex into proteoliposomes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18171678

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1074/JBC.M707353200

1 reference

31 July 2017

1 reference

31 July 2017

1 reference