MPEG1, macrophage expressed 1, 219972

N. diseases: 98; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023786
Disease: Mucopolysaccharidosis I
Mucopolysaccharidosis I 		0.050 GeneticVariation disease BEFREE MPS I-H is the most severe form of alpha-l-iduronidase deficiency. alpha-l-iduronidase (encoded by the IDUA gene) is a lysosomal enzyme that participates in the degradation of dermatan sulfate and heparan sulfate. 19751987 2010
CUI: C0018609
Disease: Hartnup Disease
Hartnup Disease 		0.020 GeneticVariation disease BEFREE We found that the phenotype in homozygous Idua-W392X mice closely correlated with the human MPS I-H disease. 19751987 2010
CUI: C2713321
Disease: alpha-L-Iduronidase Deficiency
alpha-L-Iduronidase Deficiency 		0.020 GeneticVariation disease BEFREE MPS I-H is the most severe form of alpha-l-iduronidase deficiency. alpha-l-iduronidase (encoded by the IDUA gene) is a lysosomal enzyme that participates in the degradation of dermatan sulfate and heparan sulfate. 19751987 2010
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 AlteredExpression disease BEFREE These results suggest that the accumulation of GAGs in murine MPS I bone has an inhibitory effect on cathepsin K activity, resulting in impaired osteoclast activity and decreased cartilage resorption, which may contribute to the bone pathology seen in MPS diseases. 19834056 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.040 AlteredExpression disease BEFREE Noting that aneuploidy in human breast cancer correlates with increased expression levels of the Mps1 checkpoint gene, we investigated whether these high levels of Mps1 contribute to the ability of breast cancer cells to tolerate this aneuploidy. 21402910 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 AlteredExpression disease BEFREE Noting that aneuploidy in human breast cancer correlates with increased expression levels of the Mps1 checkpoint gene, we investigated whether these high levels of Mps1 contribute to the ability of breast cancer cells to tolerate this aneuploidy. 21402910 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 AlteredExpression disease BEFREE We reported previously that MPS-1 was highly expressed in human gastric cancer. 21796632 2012
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 AlteredExpression disease BEFREE We reported previously that MPS-1 was highly expressed in human gastric cancer. 21796632 2012
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.010 Biomarker disease BEFREE These data suggest that MPS-1 suppresses CAG growth and that weakened FGF2 signaling may contribute to this effect. 21889435 2011
CUI: C0006111
Disease: Brain Diseases
Brain Diseases 		0.010 GeneticVariation group BEFREE Prevention of the immune response to enzyme may improve the efficacy of intrathecal enzyme replacement therapy for brain disease due to MPS I. 22402327 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis. 22430208 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.060 GeneticVariation phenotype BEFREE We propose that continuously activated BRAF(V600E) signaling may be a possible mechanism for the deregulation of Mps1 stability and kinase activity in human tumors, and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis. 22430208 2013
CUI: C0025202
Disease: melanoma
melanoma 		0.020 PosttranslationalModification disease BEFREE Phosphorylation of Mps1 by BRAFV600E prevents Mps1 degradation and contributes to chromosome instability in melanoma. 22430208 2013
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		0.010 AlteredExpression group BEFREE We show that primary embryonic and established fibroblasts can be induced by interferons or by intracellular bacterial infection to express a perforin-like mRNA previously described as macrophage-expressed gene 1 (Mpeg1). 23257510 2013
CUI: C0026703
Disease: Mucopolysaccharidoses
Mucopolysaccharidoses 		0.100 Biomarker disease BEFREE Since we previously observed that in patients with mucopolysaccharidosis (MPS) the storage of undegraded glycosaminoglycans (GAG) occurs from birth, in the present study we aimed to compare normal, untreated MPS I mice (knockout for alpha-l-iduronidase-IDUA), and MPS I mice treated with enzyme replacement therapy (ERT, Laronidase, 1.2mg/kg every 2 weeks) started from birth (ERT-neo) or from 2 months of age (ERT-ad).All mice were sacrificed at 6 months. 23562162 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.060 GeneticVariation phenotype BEFREE Here, we report that Mps1/AKT and B-Raf(WT)/ERK signaling form an auto-regulatory negative feedback loop in melanoma cells; notably, oncogenic B-Raf(V600E) abrogates the negative feedback loop, contributing the aberrant Mps1 functions and tumorigenesis. 23726842 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.060 Biomarker phenotype BEFREE However, how MPS-1 contributes to gastric carcinogenesis has not been well characterized. 23803695 2013
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.020 Biomarker disease BEFREE Collectively, our findings suggest that MPS-1 regulates cell invasiveness and migration partially through ITGB4 and that MPS-1/ITGB4 signaling axis may serve as therapeutic targets in the treatment of gastric cancer. 23803695 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.020 Biomarker phenotype BEFREE Furthermore, by using Signal-Net and cluster analyses of microarray data we identified integrin β4 (ITGB4) as a downstream target of MPS-1 that mediates its effects on cell metastasis. 23803695 2013
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.020 Biomarker disease BEFREE Collectively, our findings suggest that MPS-1 regulates cell invasiveness and migration partially through ITGB4 and that MPS-1/ITGB4 signaling axis may serve as therapeutic targets in the treatment of gastric cancer. 23803695 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE Mechanically, we found that overexpression of ITGB4 in MPS-1 knockdown cells largely recovers the ability of invasion and migration. 23803695 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Using publicly available gene expression data, we determined that MPS1 overexpression corresponds positively with tumor grade and negatively with patient survival (two-sided t test, P < .001). 23940287 2013
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.050 Biomarker disease BEFREE The effect of MPS1 inhibition was assessed in different orthotopic glioblastoma mouse models (n = 3-7 mice/group). 23940287 2013
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.050 Biomarker disease BEFREE The effect of MPS1 inhibition was assessed in different orthotopic glioblastoma mouse models (n = 3-7 mice/group). 23940287 2013
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.050 Biomarker disease BEFREE The effect of MPS1 inhibition was assessed in different orthotopic glioblastoma mouse models (n = 3-7 mice/group). 23940287 2013