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Ryanodine receptor 2

RyR2, Calcium Release Channel
This gene encodes a ryanodine receptor found in cardiac muscle sarcoplasmic reticulum. The encoded protein is one of the components of a calcium channel, composed of a tetramer of the ryanodine receptor proteins and a tetramer of FK506 binding protein 1B proteins, that supplies calcium to cardiac muscle. Mutations in this gene are associated with stress-induced polymorphic ventricular tachycardia and arrhythmogenic right ventricular dysplasia. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, V1a, HAD, CD1, CaM
Papers on RyR2
Developmental neurogenetics and multimodal neuroimaging of sex differences in autism.
New
GENDAAR Research Consortium et al., Los Angeles, United States. In Brain Imaging Behav, Feb 2016
The SNPs of genes such as RYR2, UPP2, and the androgen receptor gene have been shown to have sex-biasing factors in both girls and boys diagnosed with ASD.
Slowed depolarization and irregular repolarization in catecholaminergic polymorphic ventricular tachycardia: a study from cellular Ca2+ transients and action potentials to clinical monophasic action potentials and electrocardiography.
New
Viitasalo et al., Espoo, Finland. In Europace, Jan 2016
Induced pluripotent stem cell cardiomyocytes from a RyR2-P2328S patient showed increased non-alternating variability of Ca(2+) transients in response to isoproterenol.
Phospholamban ablation rescues the enhanced propensity to arrhythmias of mice with CaMKII-constitutive phosphorylation of RyR2-S2814 site.
New
Mattiazzi et al., La Plata, Argentina. In J Physiol, Jan 2016
BACKGROUND: Mice with constitutive pseudo-phosphorylation at Ser2814-RyR2 (S2814D(+/+) ), increase the propensity to arrhythmias under β-adrenergic stress conditions.
Cardioprotective effects of baicalein on heart failure via modulation of Ca(2+) handling proteins in vivo and in vitro.
New
Hou et al., Harbin, China. In Life Sci, Jan 2016
Finally we found that baicalein could modulate the expressions and activities of Ca(2+) handling proteins, including downregulation of phosphorylation of Ca(2+)/calmodulin -dependent protein kinase II (CaMKII) and expression of Na(+)/Ca(2+)-exchangers (NCX1), upregulation of sarcoplasmic reticulum Ca(2+) ATPase 2 (SERCA2) and ryanodine receptor 2 (RYR2).
Calcium signaling in human stem cell-derived cardiomyocytes: Evidence from normal subjects and CPVT afflicted patients.
Review
New
Morad et al., Charleston, United States. In Cell Calcium, Jan 2016
Catecholaminergic polymorphic ventricular tachycardia (CPVT1) is a malignant inherited arrhythmogenic disorder predominantly caused by mutations in the cardiac ryanodine receptor (RyR2).
RYR2, PTDSS1 and AREG genes are implicated in a Lebanese population-based study of copy number variation in autism.
New
Boustany et al., Beirut, Lebanon. In Sci Rep, Dec 2015
A duplication at 1q43 classified as likely pathogenic encompasses RYR2 as a potential ASD candidate gene.
Arrythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and cathecholaminergic polymorphic ventricular tachycardia (CPVT): A phenotypic spectrum seen in same patient.
Review
New
Tiyyagura et al., Newark, United States. In J Electrocardiol, Sep 2015
A mutation in different genes causes these syndromes but recently, mutation in a common gene RYR2 has been associated with both disorders and it has been suggested that CPVT and ARVD/C represent a phenotypic spectrum.
The ryanodine receptor provides high throughput Ca2+-release but is precisely regulated by networks of associated proteins: a focus on proteins relevant to phosphorylation.
Review
New
Sitsapesan et al., Oxford, United Kingdom. In Biochem Soc Trans, Jun 2015
This review focuses on those proteins that are relevant to phosphorylation of RyR channels with particular reference to the cardiac isoform of RyR (RyR2).
Examining a new role for zinc in regulating calcium release in cardiac muscle.
Review
New
Stewart et al., Saint Andrews, United Kingdom. In Biochem Soc Trans, Jun 2015
We also consider the evidence that the cardiac ryanodine receptor (RyR2) is a potential zinc signalling target.
Essential Roles of Intracellular Calcium Release Channels in Muscle, Brain, Metabolism, and Aging.
Review
Marks et al., New York City, United States. In Curr Mol Pharmacol, 2014
The ryanodine receptors (RyRs: RyR1, RyR2, RyR3) and inositol 1,4,5-trisphosphate receptors (IP3Rs: IP3R1, IP3R2, IP3R3) are the major Ca(2+) release channels (CRCs) on the endo/sarcoplasmic reticulum (ER/SR).
The ryanodine receptor store-sensing gate controls Ca2+ waves and Ca2+-triggered arrhythmias.
Impact
Chen et al., Calgary, Canada. In Nat Med, 2014
Here we show that a point mutation, E4872A, in the helix bundle crossing region (the proposed gate) of the cardiac ryanodine receptor (RyR2) completely abolishes luminal, but not cytosolic, Ca(2+) activation of RyR2.
Role of leaky neuronal ryanodine receptors in stress-induced cognitive dysfunction.
Impact
GeneRIF
Marks et al., New York City, United States. In Cell, 2012
Neuronal RyR2 remodeling contributes to stress-induced cognitive dysfunction.
In situ confocal imaging in intact heart reveals stress-induced Ca(2+) release variability in a murine catecholaminergic polymorphic ventricular tachycardia model of type 2 ryanodine receptor(R4496C+/-) mutation.
GeneRIF
Song et al., Iowa City, United States. In Circ Arrhythm Electrophysiol, 2012
Use confocal microscopy to provide insights into Ca(2+) release and electric dysfunction in RyR2 mutation model of catecholaminergic polymorphic ventricular tachycardia.
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia: disease penetrance and expression in cardiac ryanodine receptor mutation-carrying relatives.
GeneRIF
Wilde et al., Amsterdam, Netherlands. In Circ Arrhythm Electrophysiol, 2012
Familial evaluation in catecholaminergic polymorphic ventricular tachycardia showed relatives carrying an Ryr2 mutation have a marked phenotypic diversity.
Novel ryanodine receptor 2 mutation associated with a severe phenotype of catecholaminergic polymorphic ventricular tachycardia.
GeneRIF
Dick et al., Ann Arbor, United States. In J Pediatr, 2012
catecholaminergic polymorphic ventricular tachycardia associated with a novel mutation of the ryanodine receptor 2
Role of RyR2 phosphorylation at S2814 during heart failure progression.
GeneRIF
Wehrens et al., Houston, United States. In Circ Res, 2012
Suggest that increased CaMKII phosphorylation of RyR2 plays a role in the development of pathological sarcoplasmic reticulum Ca(2+) leak and heart failure development.
Carvedilol and its new analogs suppress arrhythmogenic store overload-induced Ca2+ release.
Impact
Chen et al., Calgary, Canada. In Nat Med, 2011
Here we show that carvedilol is the only beta blocker tested that effectively suppresses SOICR by directly reducing the open duration of the cardiac ryanodine receptor (RyR2).
The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule.
Impact
Van Petegem et al., Vancouver, Canada. In Nature, 2010
We pinpoint the exact locations of more than 50 disease-associated mutations in full-length RyR1 and RyR2.
Phosphodiesterase 4D deficiency in the ryanodine-receptor complex promotes heart failure and arrhythmias.
Impact
Marks et al., New York City, United States. In Cell, 2005
The phosphodiesterase 4D3 (PDE4D3) was found in the cardiac ryanodine receptor (RyR2)/calcium-release-channel complex (required for excitation-contraction [EC] coupling in heart muscle).
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