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: 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: 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: 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: 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: 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: 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
Malignant neoplasm of colon and/or rectum
0.010 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: 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: 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: C0039730
Disease: Thalassemia
Thalassemia
0.010 GeneticVariation group BEFREE We developed a human cellular model of the β<sup>0</sup>39 thalassemia mutation with UPF-1 suppressed and showing a partial NMD suppression. 29764417 2018
CUI: C0276289
Disease: Zika Virus Infection
Zika Virus Infection
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: 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: 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: 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: 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
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
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: 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: 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: 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: 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