UPF1, UPF1 RNA helicase and ATPase, 5976

N. diseases: 38; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE In this study, we elucidated the function and possible effect and molecular mechanisms of lncRNA-Linc-00313 on the biological behaviors of glioblastoma cells as well as UPF1 function as a RNA-binding protein to enhance its stability. 31427569 2019
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 Biomarker disease BEFREE This work helps validate UPF1 as a novel therapeutic for ALS and other TDP-43-related diseases and may implicate UPF1 and NMD involvement in the underlying disease mechanisms. 25354681 2015
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia
0.010 AlteredExpression disease LHGDN Regulated degradation of replication-dependent histone mRNAs requires both ATR and Upf1. 16086026 2005
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.010 Biomarker disease BEFREE These data highlight a new, neuronal role for UPF1, distinct from its RNA decay functions, in regulating transport and/or translation of mRNAs that are critical for synaptic plasticity.<b>SIGNIFICANCE STATEMENT</b> The elongation and/or termination steps of mRNA translation are emerging as important control points in mGluR-LTD, a form of synaptic plasticity that is compromised in a severe monogenic form of autism, Fragile X Syndrome. 28821679 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE In this investigation we studied the role of Up-frameshift 1 (UPF1) in the tumorigenesis of HCC. 26759305 2016
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 Biomarker group BEFREE Additionally, the predominant nuclear localization of UPF1 in normal glandular cells and low grade tumors was switched to a more cytoplasmic pattern in carcinomas with Gleason score >7. 23881279 2013
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 AlteredExpression disease BEFREE The decreased MARVELD1 level in lung cancer reduces NMD efficiency through diminishing the association between NMD complex component UPF1/SMG1 and premature termination codons containing mRNA (PTC-mRNA). 25520033 2014
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 Biomarker disease BEFREE In this study, we elucidated the function and possible effect and molecular mechanisms of lncRNA-Linc-00313 on the biological behaviors of glioblastoma cells as well as UPF1 function as a RNA-binding protein to enhance its stability. 31427569 2019
CUI: C0008525
Disease: Choroideremia
Choroideremia
0.010 AlteredExpression disease BEFREE There was no correlation between CHM mRNA expression and genotype, phenotype or UPF1 transcript levels. 30689859 2019
CUI: C0009319
Disease: Colitis
Colitis
0.010 AlteredExpression disease BEFREE UPF1 expression was detected by qRT-PCR, western blotting, and immunohistochemistry in dextran sulfate sodium-induced colitis in mice. 29959727 2018
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 AlteredExpression disease BEFREE A novel lncRNA NR4A1AS up-regulates orphan nuclear receptor NR4A1 expression by blocking UPF1-mediated mRNA destabilization in colorectal cancer. 31253658 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 AlteredExpression disease BEFREE The impact of NMD activity was also investigated in primary MSI CRCs by quantifying the expression of several mRNAs relative to their mutational status and to endogenous UPF1 and UPF2 expression. 18612427 2008
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
Epilepsy, Temporal Lobe
0.010 AlteredExpression disease BEFREE Upf1 protein levels were also higher in resected hippocampus from patients with intractable temporal lobe epilepsy. 28128343 2017
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 Biomarker disease BEFREE In this study, we elucidated the function and possible effect and molecular mechanisms of lncRNA-Linc-00313 on the biological behaviors of glioblastoma cells as well as UPF1 function as a RNA-binding protein to enhance its stability. 31427569 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 Biomarker disease BEFREE In this study, we elucidated the function and possible effect and molecular mechanisms of lncRNA-Linc-00313 on the biological behaviors of glioblastoma cells as well as UPF1 function as a RNA-binding protein to enhance its stability. 31427569 2019
CUI: C0017638
Disease: Glioma
Glioma
0.030 Biomarker disease BEFREE The study is the first to prove that the UPF1-Linc-00313-miR-342-3p/miR-485-5p-Zic4-SHCBP1 pathway forms a positive-feedback loop and regulates the biological behaviors of U87 and U251 cells, which might provide a new therapeutic target for glioma. 31427569 2019
CUI: C0017638
Disease: Glioma
Glioma
0.030 AlteredExpression disease BEFREE UPF1 was conversely downregulated in glioma patients. 31696483 2019
CUI: C0017638
Disease: Glioma
Glioma
0.030 Biomarker disease BEFREE Finally, rescue experiments were conducted to ascertain the involvement of CYTOR in UPF1-regulated progression of glioma. 31799670 2019
CUI: C0079474
Disease: Hallopeau-Siemens Disease
Hallopeau-Siemens Disease
0.010 AlteredExpression disease BEFREE Amlexanox increased COL7A1 transcript and the phosphorylation of UPF-1, an RNA helicase associated with nonsense-mediated mRNA decay, suggesting that amlexanox inhibits nonsense-mediated mRNA decay in cells from patients with RDEB that respond to read-through treatment. 28549954 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE These findings establish UPF1 as a potential therapeutic target for HCC patients. 28554132 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 AlteredExpression disease BEFREE The results of the present study revealed that UPF1 was significantly downregulated in an HCC cell line. 30628676 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 AlteredExpression disease BEFREE In clinical samples of HCC, miR-1468 inversely correlated with the levels of CITED2 and UPF1, which were confirmed to be down-regulated in HCC. 29510736 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE Functionally, UPF1 regulated HCC tumorigenesis both in vitro and in vivo. 26759305 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE Upregulation of SNHG6 regulates ZEB1 expression by competitively binding miR-101-3p and interacting with UPF1 in hepatocellular carcinoma. 27702662 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE Knockdown of UCA1 ameliorated the effect of UPF1 knock down on HCC growth and invasion. 31040354 2019