PLN, phospholamban, 5350

N. diseases: 90; N. variants: 6
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 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: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Phospholamban deficiency may prevent such left ventricular dysfunction and its progression to heart failure in some of the animal models with dilated cardiomyopathy. 11855657 2001
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 GeneticVariation disease BEFREE A mutation in the coding region of the phospholamban (PLN) gene (R14del) is identified in families with hereditary heart failure. 25923014 2015
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 AlteredExpression disease BEFREE Phospholamban (PLB) inhibits SERCA2 activity and is therefore a potential target to improve the cardiac performance in heart failure. 10468529 1999
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 GeneticVariation disease BEFREE The p.Arg14del founder mutation in the gene encoding phospholamban (PLN) is associated with an increased risk of malignant ventricular arrhythmia (VA) and heart failure. 29635323 2019
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Transgenic PLN(R9C) mice recapitulated human heart failure with premature death. 12610310 2003
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Mutations and post-translational modifications of PLN may lead to dilated cardiomyopathy (DCM) and heart failure. 29501609 2018
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE The potential physiological relevance of PLB function in human heart failure is also covered. 9790566 1998
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Targeting phospholamban by gene transfer in human heart failure. 11864915 2002
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 GeneticVariation disease LHGDN Transgenic PLN(R9C) mice recapitulated human heart failure with premature death. 12610310 2003
CUI: C0018801
Disease: Heart failure
Heart failure
0.300 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: C0018801
Disease: Heart failure
Heart failure
0.300 Biomarker disease BEFREE Abnormalities in two proteins that regulate Ca(2+) handling in myocytes, phospholamban and the voltage-dependent L-type Ca(2+) channel, were also reversed, as was the increased expression of genes that are associated with heart failure. 16893886 2006