CSRP3, cysteine and glycine rich protein 3, 8048

N. diseases: 108; N. variants: 19
Disease: Heart failure ×
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 Mutations in CSRP3 gene cause cardiomyopathies and deregulation of CSRP3 has been found in patients with heart failure and several skeletal muscle diseases. 30826063 2019
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease BEFREE In summary, MLP-deficient hESC-CMs recapitulate the pathogenesis of HCM and its progression toward HF, providing an important human model for investigation of CSRP3/MLP-associated disease pathogenesis. 31406109 2019
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease BEFREE Conversely, gene-deleted mice lacking both Mg29 and MLP protein showed a further reduction in t-tubule organization and accelerated heart failure. 28706255 2017
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 AlteredExpression disease BEFREE Our results suggest that the main role of MLP in heart lies in the direct inhibition of PKCα and that chronic uninhibited PKCα activity at the intercalated disc in the absence of functional MLP leads to heart failure. 27353086 2016
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 GeneticVariation disease BEFREE Missense mutations in human MLP or its ablation in transgenic mice promotes cardiomyopathy and heart failure. 24934443 2014
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease BEFREE Up-regulation was evident for muscle LIM protein (Mlp), desmin, and heart failure (natriuretic peptide A [Nppa], Nppb, and myosin heavy chain 6) and fibrosis (transforming growth factor beta 1, alpha-smooth muscle actin, osteopontin, and periostin) markers. 25541130 2014
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease BEFREE Interestingly, MLP was also found to be down-regulated in humans with heart failure (Zolk et al. 21484537 2011
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease BEFREE We have further investigated the muscle LIM protein knockout model of HF (MLP-/-), which closely parallels human dilated cardiomyopathy disease progression and aberrant beta-adrenergic signaling, and their betaARKct rescue. 17971502 2008
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease BEFREE An MLP-deficient mouse has been described; these mice develop dilated cardiomyopathy and heart failure. 14567970 2004
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 AlteredExpression disease BEFREE We investigated whether altered MLP expression is significant for the pathogenesis of human heart failure. 10851202 2000
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease BEFREE To investigate whether alterations in betaAR function contribute to the development of myocardial failure, transgenic mice with cardiac-restricted overexpression of either a peptide inhibitor of betaARK1 or the beta2AR were mated into a genetic model of murine heart failure (MLP-/-). 9618528 1998
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease BEFREE In vivo analysis revealed that MLP-deficient mice reproduce the morphological and clinical picture of dilated cardiomyopathy and heart failure in humans, providing the first model for this condition in a genetically manipulatable organism. 9039266 1997
CUI: C0018801
Disease: Heart failure
Heart failure 		0.300 Biomarker disease MGD