PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
Disease: Congestive heart failure ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE The ablation of a muscle-specific sarcoplasmic reticulum Ca2+ ATPase (SERCA2a) inhibitor, phospholamban, rescued the spectrum of phenotypes that resemble human heart failure. 10555147 1999
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE The data demonstrate an association between the dose-dependent inhibition of SERCA2a activity by PLN(wt) and the time of onset of heart failure and show that a weak inhibitor of SERCA2a, PLN(R9C), which is diminished in its ability to modify the level of SERCA2a activity, leads to heart failure despite fast sarcoplasmic reticulum Ca(2+) reuptake. 19139388 2009
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE The potential physiological relevance of PLB function in human heart failure is also covered. 9790566 1998
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 AlteredExpression disease BEFREE These data also show that the altered SR function in human heart failure cannot be explained by altered protein levels of PLB and SERCA2. 8689655 1996
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE These findings suggest that the g.203A>C genetic variant in the human PLN promoter may contribute to depressed contractility and accelerate functional deterioration in heart failure. 18241046 2008
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE These findings suggest that the human G147D PPI-1 can attenuate responses of cardiomyocytes to beta-adrenergic agonists by decreasing PLN phosphorylation and therefore may contribute to deteriorated function in heart failure. 18192322 2008
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE These results establish this FRET assay as a rapid and quantitative means of screening PLB(M) for optimization of gene therapy to activate SERCA, as needed for gene therapy in HF. 22405774 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE These results show that LOF PLB(M) can compete both physically and functionally with PLB(W), provide a rational explanation for the partial success of S16E-based gene therapy in animal models of heart failure, and establish a powerful platform for designing and testing more effective PLB(M) targeted for gene therapy of heart failure in humans. 21510919 2011
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE These results suggest that PLN deletion would be a promising approach to improve both mortality and cardiac function in the heart failure. 27992596 2016
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE These results support the development of the PLN repressor as therapy for heart failure, and provide evidence that delivery of engineered ZFP TFs to native organs can drive therapeutically relevant levels of gene repression in vivo. 22828502 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE Through genetic screening of dilated cardiomyopathy patients, we identified a previously uncharacterized deletion of arginine 14 (PLN-R14Del) in the coding region of the phospholamban (PLN) gene in a large family with hereditary heart failure. 16432188 2006
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE To clarify whether pVHL is involved in PLN degradation in failing hearts, we used carbonylcyanide <i>m</i>-chlorophenylhydrazone (CCCP), a mitochondrial membrane potential (MMP)-lowering reagent, to mimic the heart failure condition in PLN-expressing HEK293 cells and found that CCCP treatment resulted in PLN degradation and increased interaction between PLN and pVHL. 29068413 2017
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 Biomarker disease BEFREE Transgenic PLN(R9C) mice recapitulated human heart failure with premature death. 12610310 2003
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 AlteredExpression disease BEFREE We envision a self-reinforcing mechanism beginning with phosphomimetic R9C-PLB oxidation and loss of SERCA inhibition, leading to impaired calcium regulation and heart failure. 25593317 2015
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.400 GeneticVariation disease BEFREE We investigated whether genetic modification of calcium handling through deletion of phospholamban in mice would affect the development of heart failure in mice with transgenic overexpression of the beta1-adrenergic receptor. 14967726 2004