TRIM72, tripartite motif containing 72, 493829

N. diseases: 34; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.050 GeneticVariation disease BEFREE Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin. 19380584 2009
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 Biomarker group BEFREE Upon cell-surface lesion MG53 recruits the vesicles to the repair site in an oxidation-dependent manner and MG53-knockout mice develop progressive myopathy associated with defective membrane repair. 19202355 2009
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.050 GeneticVariation disease BEFREE No pathogenic MG53 mutations were identified in 50 muscular dystrophy patients, suggesting that MG53 is unlikely to be a common cause of muscular dystrophy in Australia. 21412170 2011
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.050 Biomarker disease BEFREE Our recent studies show that MG53 is essential for muscle membrane repair, and defects in MG53 function are linked to muscular dystrophy and cardiac dysfunction. 21343302 2011
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 Biomarker group BEFREE This study explored the expression and localization of MG53 in human skeletal muscle, how membrane repair proteins are modulated in various forms of muscular dystrophy, and whether MG53 is a primary cause of human muscle disease. 21412170 2011
CUI: C1832567
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C 		0.010 Biomarker disease BEFREE Three interacting partners of dysferlin are also implicated in membrane resealing: caveolin-3 (in limb girdle muscular dystrophy type 1C), annexin A1, and the newly identified protein mitsugumin 53 (MG53). 21412170 2011
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.050 AlteredExpression disease BEFREE Here, we show that systemic delivery and muscle-specific overexpression of human MG53 gene by recombinant adeno-associated virus (AAV) vectors enhanced membrane repair, ameliorated pathology, and improved muscle and heart functions in δ-sarcoglycan (δ-SG)-deficient TO-2 hamsters, an animal model of MD and congestive heart failure. 22314291 2012
CUI: C0018801
Disease: Heart failure
Heart failure 		0.020 Biomarker disease BEFREE Enhancing muscle membrane repair by gene delivery of MG53 ameliorates muscular dystrophy and heart failure in δ-Sarcoglycan-deficient hamsters. 22314291 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.020 AlteredExpression disease BEFREE Here, we show that systemic delivery and muscle-specific overexpression of human MG53 gene by recombinant adeno-associated virus (AAV) vectors enhanced membrane repair, ameliorated pathology, and improved muscle and heart functions in δ-sarcoglycan (δ-SG)-deficient TO-2 hamsters, an animal model of MD and congestive heart failure. 22314291 2012
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.050 Biomarker disease BEFREE There is great potential for the use of recombinant human MG53 in treating muscular dystrophy and other diseases in which compromised membrane integrity contributes to the disease. 23699904 2013
CUI: C0024115
Disease: Lung diseases
Lung diseases 		0.010 Biomarker group BEFREE Our data indicate a physiological function for MG53 in the lung and suggest that targeting membrane repair may be an effective means for treatment or prevention of lung diseases. 25034454 2014
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		0.010 Biomarker disease BEFREE MG53 has been implicated in cardiac ischaemia-reperfusion injury, and serum MG53 provides a biomarker of skeletal muscle injury in the mdx mouse model of Duchenne muscular dystrophy. 26790476 2016
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.030 AlteredExpression group BEFREE It is noteworthy that chronic upregulation of MG53 induces insulin resistance and metabolic diseases, such as type 2 diabetes and its cardiovascular complications, by acting as an E3 ligase to mediate the degradation of insulin receptor and insulin receptor substrate-1. 28432201 2017
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
Muscular Dystrophies, Limb-Girdle 		0.010 Biomarker group BEFREE Treatment with Recombinant Human MG53 Protein Increases Membrane Integrity in a Mouse Model of Limb Girdle Muscular Dystrophy 2B. 28750735 2017
CUI: C1850889
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B 		0.010 Biomarker disease BEFREE Here, we tested whether rhMG53 protein can improve membrane repair in a dysferlin-deficient mouse model of LGMD2B (B6.129-Dysf<sup>tm1Kcam</sup>/J). 28750735 2017
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.030 Biomarker group BEFREE We will focus on the pathways that MG53 regulates and how the dysregulation of MG53 leads to metabolic disorders, thereby establishing a causal relationship between sustained upregulation of MG53 and the development of muscle insulin resistance and metabolic disorders. 29017896 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 Biomarker disease BEFREE These results indicated that MSC infusion has therapeutic effects in rats and that MG53 in skeletal muscle may be a promising novel therapeutic target protein for MSC‑mediated amelioration of insulin resistance in T2D. 29693163 2018
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.020 Biomarker disease BEFREE TRIM72 is involved in insulin resistance and metabolic syndrome, which are risk factors of colon cancer. 29806630 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.020 AlteredExpression disease BEFREE Importantly, the lower serum TRIM72 levels were associated with advanced clinical stage, lymph node, and distant metastases in colon cancer patients. 29806630 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.010 AlteredExpression disease BEFREE Expression of MG53 increased with the extent of atrial fibrosis, which could induce AF. 29233682 2018
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 AlteredExpression disease BEFREE Importantly, the lower serum TRIM72 levels were associated with advanced clinical stage, lymph node, and distant metastases in colon cancer patients. 29806630 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE Importantly, the lower serum TRIM72 levels were associated with advanced clinical stage, lymph node, and distant metastases in colon cancer patients. 29806630 2018
CUI: C0234233
Disease: Sore to touch
Sore to touch 		0.010 Biomarker phenotype BEFREE Among the unusual proteins, Four and a half LIM domains 1 (FHL1) and Tripartite motif protein 72 (TRIM72) correlated respectively negatively and positively with beef tenderness. 29412918 2018
CUI: C0919747
Disease: Cytokine storm
Cytokine storm 		0.010 Biomarker disease BEFREE Genetic ablation of TRIM72 led to improved pathogen clearance, reduced cytokine storm, and improved survival in murine models of severe pneumonia, specificity of which was confirmed by adoptive transfer of wild-type or TRIM72<sup>KO</sup> AMs to AM-depleted TRIM72<sup>KO</sup> mice. 29268030 2018
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 AlteredExpression group BEFREE Importantly, the lower serum TRIM72 levels were associated with advanced clinical stage, lymph node, and distant metastases in colon cancer patients. 29806630 2018