RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Our data revealed that CTCF protects cardiomyocytes from ER stress through S100A1-RYR2 axis, and can be applied as a therapeutic target for the treatment of pediatric heart failure in future. 31837328 2020
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Moreover, the over-activated calcium handling related protein CaMKII and RyR2 in heart failure was reversed by resiniferatoxin administration. 31811858 2020
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Ryanodine receptor 2 (RyR2) plays an important role in maintaining the normal heart function, and mutantions can lead to arrhythmia, heart failure and other heart diseases. 31143551 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE PKA-dependent "hyperphosphorylation" of the RyR2 channel has been proposed as a major impairment that contributes to progression of heart failure. 30541771 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 AlteredExpression disease BEFREE Rather, CaM's biological action on human RyR2 appears to be more nuanced, with inhibitory activity only on phosphorylated RyR2 channels, which occurs during exercise or in patients with heart failure. 30928430 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Our results provide preclinical experimental evidence that the cardiac expression of RyR2 nanobodies with AAV9 vectors is a promising therapeutic strategy for HF.-Li, T., Shen, Y., Lin, F., Fu, W., Liu, S., Wang, C., Liang, J., Fan, X., Ye, X., Tang, Y., Ding, M., Yang, Y., Lei, C., Hu, S. Targeting RyR2 with a phosphorylation site-specific nanobody reverses dysfunction of failing cardiomyocytes in rats. 30885011 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 GeneticVariation disease BEFREE Indeed, we identified an L2483R mutation in the ryanodine receptor type 2 (RyR2) in a 2-month-old male patient with VSD with HF. 30308486 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 GeneticVariation disease BEFREE Development of HF was not aggravated by increased SR Ca<sup>2+</sup> leak due to RyR2 mutation (R2474S) in volume overload, an SR Ca<sup>2+</sup> leak-independent HF model. 30209242 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Calmodulin (CaM) dissociation from RyR2 has been associated with diastolic Ca<sup>2+</sup> leak in heart failure. 29248564 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Since HF is commonly associated with oxidative stress, we studied whether oxidation of ryanodine receptor (RyR2) contributes to this defect. 29500669 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 AlteredExpression disease BEFREE Several studies have linked increased SR Ca leak during myocardial infarction and heart failure to the activation of RyR2 in response to oxidative stress. 30574097 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 AlteredExpression disease BEFREE In this study, we investigated the potential of adeno-associated virus (AAV)-9-mediated cardiac expression of a Type-2 ryanodine receptor (RyR2) degradation-associated gene, Presenilin 1 (PSEN1), to combat post-ischaemic heart failure. 29521549 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE In a canine heart failure (HF) model, OS generation and oxidized-CaMKII-induced (Ox-CaMKII-induced) RyR2 and Nav1.5 signaling were increased preferentially in the PLA (compared with left atrial appendage). 30385719 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 GeneticVariation disease BEFREE Cardiac adrenergic response and progression towards HF proceed unaltered in mice harboring the RyR2-S2808A mutation. 28065668 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE In heart failure (HF), dysregulated cardiac ryanodine receptors (RyR2) contribute to the generation of diastolic Ca<sup>2+</sup> waves (DCWs), thereby predisposing adrenergically stressed failing hearts to life-threatening arrhythmias. 28612155 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Overactivity of Ca<sup>2+</sup>/calmodulin-dependent protein kinase II (CaMKII) with hyperphosphorylation of ryanodine receptors (RyR2) at the CaMKII-site is recognized to be central for heart failure and arrhythmias. 28451724 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Correction of impaired calmodulin binding to RyR2 as a novel therapy for lethal arrhythmia in the pressure-overloaded heart failure. 27771553 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE That RyR2 is remodelled and its function disturbed in heart failure is well recognized, but poorly understood. 28131631 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE In addition, the role of reduced CaM binding to RyR2 that results from RyR2 phosphorylation or from oxidation of either RyR2 or CaM contributes to the progression of heart failure is reviewed. 27626620 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE The current amplitude of the MG23 full-open state was consistent with that previously reported for RyR2 sub-conductance gating, suggesting that in heart failure in which Zn<sup>2+</sup> levels are elevated, RyR2 channels do not gate in a sub-conductance state, but rather MG23-gating becomes more apparent. 28630041 2017
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Changes in expression levels of these phosphatases, their activity and targeting to the RyR2 macromolecular complex were demonstrated in many animal models of cardiac disease and humans and are implicated in cardiac arrhythmia and heart failure. 27585747 2016
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 GeneticVariation disease BEFREE We investigated whether the RyR2 rs3766871 variant is associated with aborted sudden cardiac death or ICD therapy for ventricular tachycardia (VT)/fibrillation (VF) in heart failure (HF) patients implanted with a cardioverter defibrillator (ICD). 25773045 2015
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 GeneticVariation disease BEFREE Recent studies suggest that variants in two calcium handling genes (RyR2 and CASQ2) associated with sudden cardiac death (SCD) and non-sudden cardiac death (NSCD) in subjects with heart failure and coronary artery disease, respectively. 26196381 2015
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Defective CaM-RyR2 interaction is associated with heart failure. 25036739 2014
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE RyR2 channels are oxidized, nitrosylated, and hyperphosphorylated by protein kinase A (PKA) in heart failure, resulting in "leaky" channels. 23507255 2013