A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium. (Q43118021)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

title

A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

4

Steven Reiken

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

author name string

Marwan M Refaat

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

Miroslav Dura

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

Anetta Wronska

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

Julianne Wojciak

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

Joan Carroll

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

Melvin M Scheinman

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

Andrew R Marks

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

publication date

9 June 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

volume

109

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

page(s)

281-290

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

Ca² -dependent phosphorylation of RyR2 can uncouple channel gating from direct cytosolic Ca² regulation

3 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Phosphorylation of the ryanodine receptor mediates the cardiac fight or flight response in mice

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

In the RyR2(R4496C) mouse model of CPVT, β-adrenergic stimulation induces Ca waves by increasing SR Ca content and not by decreasing the threshold for Ca waves

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Subcellular Ca2 signaling in the heart: the role of ryanodine receptor sensitivity

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Catecholaminergic polymorphic ventricular tachycardia is caused by mutation-linked defective conformational regulation of the ryanodine receptor.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Store overload-induced Ca2 release as a triggering mechanism for CPVT and MH episodes caused by mutations in RYR and CASQ genes

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Increased Ca2 sensitivity of the ryanodine receptor mutant RyR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Leaky Ca2 release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Physiological consequences of the P2328S mutation in the ryanodine receptor (RyR2) gene in genetically modified murine hearts

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Analysis of calstabin2 (FKBP12.6)-ryanodine receptor interactions: rescue of heart failure by calstabin2 in mice

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Enhanced store overload-induced Ca2 release and channel sensitivity to luminal Ca2 activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2 release channels.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Abnormal ryanodine receptor function in heart failure

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Differential Ca2 sensitivity of RyR2 mutations reveals distinct mechanisms of channel dysfunction in sudden cardiac death.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2 release (SOICR)

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Involvement of the cardiac ryanodine receptor/calcium release channel in catecholaminergic polymorphic ventricular tachycardia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

25 May 2018

Cardiac channelopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Molecular and cellular mechanisms of cardiac arrhythmias

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Regulation of the cardiac ryanodine receptor channel by luminal Ca2 involves luminal Ca2 sensing sites

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Regulation of cardiac muscle Ca2 release channel by sarcoplasmic reticulum lumenal Ca2

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

The immunophilin FK506-binding protein modulates Ca2 release channel closure in rat heart.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Stabilization of calcium release channel (ryanodine receptor) function by FK506-binding protein

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Na -dependent SR Ca2 overload induces arrhythmogenic events in mouse cardiomyocytes with a human CPVT mutation.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

A domain peptide of the cardiac ryanodine receptor regulates channel sensitivity to luminal Ca2 via cytoplasmic Ca2 sites

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3690513

Functional Interactions between Cytoplasmic Domains of the Skeletal Muscle Ca2 Release Channel

15 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21659649

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1161/CIRCRESAHA.111.244970

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21659649 AND SRC:MED&resulttype=core&format=json

3 February 2020

PubMed publication ID

21659649

1 reference