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: 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: C0410179
Disease: Ullrich congenital muscular dystrophy 1
Ullrich congenital muscular dystrophy 1 		0.010 Biomarker disease BEFREE In this study, we evaluated the effects of NMD inhibition by siRNA-mediated knockdown of SMG-1 or Upf1 on the phenotype of Ullrich disease, an autosomal recessive congenital muscular dystrophy. 16807116 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 AlteredExpression group BEFREE We show that NMD is responsible for this robust downregulation, as CDH1 transcripts harbouring PTCs in the KATO-III gastric tumour cell line were upregulated in response to protein synthesis inhibitors or depletion of the NMD factors UPF1 and eIF4AIII. 18427545 2008
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.010 AlteredExpression group LHGDN The NMD mRNA surveillance pathway downregulates aberrant E-cadherin transcripts in gastric cancer cells and in CDH1 mutation carriers. 18427545 2008
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.080 AlteredExpression group BEFREE A negative effect of UPF1 and UPF2 expression on the host's anti-tumor response was observed (P<0.01). 18612427 2008
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: C0027651
Disease: Neoplasms
Neoplasms 		0.080 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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 AlteredExpression group BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.040 AlteredExpression group BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE Collectively, PKP1/3-associated RBPs FXR1 and UPF1 may have a functional role in prostate cancer progression and metastasis and highlight the potential importance of posttranscriptional regulation of gene expression and nonsense-mediated decay in cancer. 23881279 2013
CUI: C1335299
Disease: Pancreatic Adenosquamous Carcinoma
Pancreatic Adenosquamous Carcinoma 		0.010 GeneticVariation disease BEFREE UPF1 mutations are, to our knowledge, the first known unique molecular signatures of pancreatic ASC. 24859531 2014
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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm 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: 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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm 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: C0027651
Disease: Neoplasms
Neoplasms 		0.080 Biomarker group BEFREE Our findings revealed that UPF1 is a potential tumor suppressive gene and may be a potential therapeutic target for HCC. 26759305 2016
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: 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: 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: 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: 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