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: 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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.070 Biomarker disease BEFREE Taken together, these findings showed that SNAI3-AS1 promotes the progression of HCC by regulating the UPF1 and activating TGF-β/Smad pathway. 31264769 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: 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: 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: 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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 Biomarker disease BEFREE The present study aimed to validate the underlying mechanism of UPF1 in UC. 29959727 2018
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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.010 AlteredExpression disease BEFREE Immunohistochemistry and qRT-PCR analyses were used to detect the expression levels of UPF1 and MALAT1 in gastric cancer and adjacent normal tissues. 28942451 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.010 AlteredExpression disease BEFREE We propose that ZIKV, via the capsid protein, has evolved a strategy to lower UPF1 levels and dampen antiviral activities of NMD, which in turn contributes to neuropathology <i>in vivo</i><b>IMPORTANCE</b> Zika virus (ZIKV) is a significant global health threat, as infection has been linked to serious neurological complications, including microcephaly. 30401782 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.010 Biomarker disease BEFREE Key proteins, including cluster of differentiation (CD)31 (platelet endothelial cell adhesion molecule‑1), Vimentin, CD44, PCNA, Ki‑67, N‑Cadherin, Survivin, P53, Met and retinoblastoma exhibited a significant association with UPF1. 30628676 2019
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus
0.010 AlteredExpression disease BEFREE Immunoprecipitation of Upf1-bound RNA from the cytoplasmic and synaptosomal compartments followed by RNA sequencing identified unique populations of NMD-associated transcripts and altered levels after status epilepticus, including known substrates such as Arc as well as novel targets including Inhba and Npas4. 28128343 2017
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