ATF6, activating transcription factor 6, 22926

N. diseases: 179; N. variants: 30
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015397
Disease: Disorder of eye
Disorder of eye
0.010 Biomarker group BEFREE Importantly, ATF6 containing a luminal achromatopsia eye disease mutation, unresponsive to proteotoxic stress, can be activated by fenretinide, a drug that upregulates DHC, suggesting a potential therapy for this and other ATF6-related diseases including heart disease and stroke. 30086303 2018
CUI: C0017160
Disease: Gastroenteritis
Gastroenteritis
0.010 AlteredExpression disease BEFREE Here, we demonstrated that infection with the alphacoronavirus transmissible gastroenteritis virus (TGEV) induced ER stress and triggered the unfolded protein response (UPR) <i>in vitro</i> and <i>in vivo</i>, and ER stress negatively regulated TGEV replication <i>in vitro</i> Although TGEV infection activated all three UPR pathways (activating transcription factor 6 [ATF6], inositol-requiring enzyme 1 [IRE1], and protein kinase R-like ER kinase [PERK]), the virus-triggered UPR suppressed TGEV replication in both swine testicular (ST) and IPEC-J2 cells primarily through activation of the PERK-eukaryotic initiation factor 2α (eIF2α) axis, as shown by functional studies with overexpression, small interfering RNA (siRNA), or specific chemical inhibitors. 29769338 2018
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
0.010 Biomarker group BEFREE Importantly, ATF6 containing a luminal achromatopsia eye disease mutation, unresponsive to proteotoxic stress, can be activated by fenretinide, a drug that upregulates DHC, suggesting a potential therapy for this and other ATF6-related diseases including heart disease and stroke. 30086303 2018
CUI: C0021192
Disease: Indeterminate leprosy
Indeterminate leprosy
0.010 Biomarker disease BEFREE A statistically significant difference between the indeterminate, tuberculoid, and lepromatous clinical forms was detected, with high expression of GRP78/BiP, PERK, IRE1<i>α</i>, and ATF6 in tuberculoid forms (TT) when compared to lepromatous leprosy (LL) and indeterminate (I) leprosy. 30647798 2018
CUI: C0023348
Disease: Leprosy, Lepromatous
Leprosy, Lepromatous
0.010 Biomarker disease BEFREE A statistically significant difference between the indeterminate, tuberculoid, and lepromatous clinical forms was detected, with high expression of GRP78/BiP, PERK, IRE1<i>α</i>, and ATF6 in tuberculoid forms (TT) when compared to lepromatous leprosy (LL) and indeterminate (I) leprosy. 30647798 2018
CUI: C0024299
Disease: Lymphoma
Lymphoma
0.010 AlteredExpression group BEFREE Finally, ATF6 was found to be activated in vv + MDV-induced primary lymphomas, suggesting a possible role in tumor progression. 29979959 2018
CUI: C0038525
Disease: Subarachnoid Hemorrhage
Subarachnoid Hemorrhage
0.010 AlteredExpression disease BEFREE The results showed that the levels of ATF6, and its downstream protein, CHOP were upregulated and reached the peak at 24 h after SAH.ATF6 was highly expressed in neurons. 30036660 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 AlteredExpression phenotype BEFREE Finally, ATF6 was found to be activated in vv + MDV-induced primary lymphomas, suggesting a possible role in tumor progression. 29979959 2018
CUI: C0265290
Disease: Metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia
0.010 Biomarker disease BEFREE Using knockdown in cell culture and gene ablation in mice we have directly compared the roles of ATF6α & β in responding to the increased ER stress induced by mutant forms of type X collagen that cause the ER stress-associated metaphyseal chondrodysplasia type Schmid (MCDS). 29522813 2018
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.010 Biomarker disease BEFREE Exercise Mitigates Alcohol Induced Endoplasmic Reticulum Stress Mediated Cognitive Impairment through ATF6-Herp Signaling. 29581524 2018
CUI: C0456909
Disease: Blindness
Blindness
0.010 GeneticVariation phenotype BEFREE Deletion of the isoform activating transcription factor 6α (ATF6α) and its paralog ATF6β results in embryonic lethality and notochord dysgenesis in nonhuman vertebrates, and loss-of-function mutations in ATF6α are associated with malformed neuroretina and congenital vision loss in humans. 29440509 2018
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 AlteredExpression disease BEFREE Most importantly, immunohistochemical analysis of a tissue microarray from a colon cancer patient cohort showed that higher expression levels of ATF6 and CIP2A were associated with a trend toward poor prognosis. 30063110 2018
CUI: C0751072
Disease: Frontotemporal Lobar Degeneration
Frontotemporal Lobar Degeneration
0.010 AlteredExpression disease BEFREE Here, we characterised 44 target genes strongly influenced by XBP1 and ATF6 and quantified the expression of a subset of genes in the human post-mortem spinal cord from amyotrophic lateral sclerosis (ALS) cases and in the frontal and temporal cortex from frontotemporal lobar degeneration (FTLD) and Alzheimer's disease (AD) cases and controls. 29725981 2018
CUI: C1274795
Disease: Urban Schosser Spohn syndrome
Urban Schosser Spohn syndrome
0.010 AlteredExpression disease BEFREE HMD significantly activated the activating transcription factor 6 (ATF6)/Herp arm of ER stress in LDLR<sup>-/-</sup> mice, and induced the phenotypic switch of VSMCs, with the loss of contractile proteins (SMA and calponin) and an increase of OPN protein. 30017525 2018
Ulcerative Colitis-Associated Colorectal Adenocarcinoma
0.010 GeneticVariation disease BEFREE Immunohistochemistry (IHC) of ATF6 were analyzed in 137 surgically resected CRCs, 95 endoscopically resected adenomas and pTis cancers, and 136 samples from 51 UC patients (93 colitis without neoplasia, 31 dysplasia, and 12 UC-associated CRC). 28884228 2018
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss
0.010 GeneticVariation phenotype BEFREE Deletion of the isoform activating transcription factor 6α (ATF6α) and its paralog ATF6β results in embryonic lethality and notochord dysgenesis in nonhuman vertebrates, and loss-of-function mutations in ATF6α are associated with malformed neuroretina and congenital vision loss in humans. 29440509 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.010 Biomarker disease BEFREE Therefore, the present in vivo and in vitro study revealed that the anti-NSCLC effect of β-elemene is closely related to the activation of ERs through PERK/IRE1α/ATF6 pathway, and this might be beneficial for clinical therapy of NSCLC. 28672279 2017
CUI: C0008149
Disease: Chlamydia Infections
Chlamydia Infections
0.010 AlteredExpression group BEFREE Using a combination of biochemical and pathway inhibition assays, we showed that the 3 UPR pathway transducers-protein kinase RNA-activated (PKR)-like ER kinase (PERK), inositol-requiring enzyme-1α (IRE1α), and activating transcription factor-6α (ATF6α)-were activated during Chlamydia infection. 27932618 2017
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.010 Biomarker disease BEFREE Myocardial ischemia induces the ER stress response; however, neither the function of this response nor whether it is mediated by ATF6 is known. 27932512 2017
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome
0.010 AlteredExpression disease BEFREE Furthermore, PCOS+MetS patients exhibited higher GRP78 and ATF6 levels than controls and PCOS patients without MetS (p<0.05). 28521868 2017
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
0.010 Biomarker disease BEFREE Myocardial ischemia induces the ER stress response; however, neither the function of this response nor whether it is mediated by ATF6 is known. 27932512 2017
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 Biomarker disease BEFREE Therefore, in this study, we sought to reveal the relationship between the expression of endoplasmic reticulum stress-related genes (endoplasmic reticulum oxidoreductase 1L, protein kinase RNA-like endoplasmic reticulum kinase, activating transcription factor 6 and inositol-requiring kinase 1) and the outcome of lung adenocarcinoma. 28334878 2017
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 Biomarker disease BEFREE In the present study, we first identified that melatonin selectively blocked activating transcription factor 6 (ATF-6) and then inhibited cyclooxygenase-2 (COX-2) expression, leading to enhanced liver cancer cell apoptosis under ER stress condition. 28246472 2017
CUI: C0243066
Disease: Atresia
Atresia
0.010 Biomarker disease BEFREE Collectively, these results imply that ATF6, as a key player in ER stress signaling, may regulate apoptosis, the cell cycle, steroid hormone synthesis, and other modulators related to folliculogenesis in mouse granulosa cells, which may indirectly be involved in the development, ovulation, and atresia of ovarian follicles by affecting the physiological function of granulosa cells. 28100484 2017
Liver and Intrahepatic Biliary Tract Carcinoma
0.010 Biomarker disease BEFREE In the present study, we first identified that melatonin selectively blocked activating transcription factor 6 (ATF-6) and then inhibited cyclooxygenase-2 (COX-2) expression, leading to enhanced liver cancer cell apoptosis under ER stress condition. 28246472 2017