|
Achromatopsia
|
0.760 |
Biomarker
|
disease |
BEFREE |
Additionally, nonconfocal dark-field AOSLO images of the retinal pigment epithelium were obtained, with quantitative analysis performed in one subject with ATF6-ACHM.
|
31237654 |
2019 |
|
Achromatopsia
|
0.760 |
Biomarker
|
disease |
BEFREE |
This new ACHM-related gene suggests a crucial and unexpected role for ATF6A in human foveal development and cone function and adds to the list of genes that, despite ubiquitous expression, when mutated can result in an isolated retinal photoreceptor phenotype.
|
26029869 |
2015 |
|
Achromatopsia
|
0.760 |
GeneticVariation
|
disease |
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 |
|
Achromatopsia
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Here, we comprehensively tested the function of achromatopsia-associated ATF6 mutations and found that they group into three distinct molecular pathomechanisms: class 1 ATF6 mutants show impaired ER-to-Golgi trafficking and diminished regulated intramembrane proteolysis and transcriptional activity; class 2 ATF6 mutants bear the entire ATF6 cytosolic domain with fully intact transcriptional activity and constitutive induction of downstream target genes, even in the absence of ER stress; and class 3 ATF6 mutants have complete loss of transcriptional activity because of absent or defective bZIP domains.
|
28028229 |
2017 |
|
Achromatopsia
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
Within the ATF6 gene, a single-base insertion variant c.355_356dupG (p.Glu119Glyfs*8) was identified, which completely segregates with the ACHM phenotype within the family.
|
26063662 |
2015 |
|
Achromatopsia
|
0.760 |
GeneticVariation
|
disease |
BEFREE |
We review the role of ER stress and UPR in retinitis pigmentosa arising from misfolded rhodopsins (RHO) and in achromatopsia arising from genetic mutations in Activating Transcription Factor 6 (ATF6).
|
27117871 |
2016 |
|
Retinitis Pigmentosa
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
We review the role of ER stress and UPR in retinitis pigmentosa arising from misfolded rhodopsins (RHO) and in achromatopsia arising from genetic mutations in Activating Transcription Factor 6 (ATF6).
|
27117871 |
2016 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.180 |
Biomarker
|
disease |
BEFREE |
Our observations raise the question of whether metformin treatment could reduce oxidative stress and act as an ER stress modulator in T2D patients by promoting an adaptive unfolded protein response (s-xbp1 and p-eIF2α) in their leukocytes; this was in contrast with nonmetformin-treated patients whose response could be driven by the ATF6-dependent pro-apoptotic pathway.
|
29061071 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
An association between genetic variation in ATF6 and type 2 diabetes (DM2) was recently reported in Pima Indians.
|
17440018 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.180 |
AlteredExpression
|
disease |
BEFREE |
Although the associations with type 2 diabetes and plasma insulin levels are marginal and their functional consequences are yet unknown, all three amino acid substitutions are located in a functionally important part of ATF6.
|
16505252 |
2006 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.180 |
Biomarker
|
disease |
BEFREE |
ATF6 does not appear to play a major role in type 2 diabetes, but further work is required to identify the cause of the allelic expression imbalance.
|
17327457 |
2007 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.180 |
AlteredExpression
|
disease |
BEFREE |
We also measured the expression level of ATF6 in pancreatic islets in Otsuka Long Evans Tokushima Fatty rats, a rodent model of type 2 diabetes.
|
18450959 |
2008 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.180 |
Biomarker
|
disease |
BEFREE |
Our current study has determined that ATF6α was a promising therapeutic target and also highlighted the potential of TSPA in the treatment of type 2 diabetes mellitus (T2DM).
|
29626480 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Studies in Pima Indian, Caucasians and African Americans identified several SNPs in DUSP12 and ATF6, located in chromosome 1q21-q23, were associated with type 2 diabetes.
|
21211013 |
2011 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.180 |
Biomarker
|
disease |
BEFREE |
Our results demonstrate that ATF6 may serve as a potential therapeutic target for the treatment of insulin resistance and type 2 diabetes.
|
21841811 |
2011 |
|
Neoplasms
|
0.080 |
Biomarker
|
group |
BEFREE |
The three main UPR signaling branches initiated by IRE1α, PERK, and ATF6 are crucial for tumor growth and aggressiveness as well as for microenvironment remodeling or resistance to treatment.
|
28741511 |
2016 |
|
Neoplasms
|
0.080 |
Biomarker
|
group |
BEFREE |
Administration of antibiotics to homozygous nATF6IEC mice greatly reduced tumor incidence, and germ-free housing completely prevented tumorigenesis.
|
30063920 |
2018 |
|
Neoplasms
|
0.080 |
Biomarker
|
group |
BEFREE |
The sex determining region Y (SRY)-box 5 (Sox5), runt-related transcription factor 3 (RUNX3), CCAAT displacement protein 1 (CUTL1), v-rel avian reticuloendotheliosis viral oncogene homolog (Rel)A, peroxisome proliferator-activated receptor γ isoform 2 (PPARγ2) and activating transcription factor 6 (ATF6) regulatory transcription factor binding sites were identified in the upstream (promoter) region of the RNPC1 gene, and may thus be involved in the effects of RNPC1 in tumors.
|
26046131 |
2015 |
|
Neoplasms
|
0.080 |
GeneticVariation
|
group |
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 |
|
Neoplasms
|
0.080 |
AlteredExpression
|
group |
BEFREE |
Genistein also increased the expressions of ATF-6α, GRP78, Bax, Bad, and Bak in tumor.
|
30618158 |
2019 |
|
Neoplasms
|
0.080 |
AlteredExpression
|
group |
BEFREE |
In addition, endoplasmic reticulum (ER) stress in tumor samples or cells was markedly induced by CA treatment through promoting the expression of associated signals such as Parkin, protein kinase RNA-like ER kinase (PERK), activating transcription factors 4 (ATF4) and ATF6.
|
31545234 |
2019 |
|
Neoplasms
|
0.080 |
Biomarker
|
group |
BEFREE |
ATF6, a key member of the endoplasmic reticulum stress signaling machinery, exhibited a similar pattern of expression as CHOP and strong activation in wt but not CHOP KO tumors.
|
24339898 |
2013 |
|
Neoplasms
|
0.080 |
Biomarker
|
group |
BEFREE |
The UPR signaling pathways initiated by double-stranded RNA-activated protein kinase (PKR) like ER kinase (PERK), inositol requiring enzyme 1 α (IRE1α), and activating transcription factor 6 (ATF6) are vital for tumor growth, aggressiveness, microenvironment remodeling, and resistance to cancer therapeutics.
|
30159133 |
2018 |
|
Achromatopsia 1
|
0.060 |
GeneticVariation
|
disease |
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 |
|
Achromatopsia 1
|
0.060 |
GeneticVariation
|
disease |
BEFREE |
Here, we comprehensively tested the function of achromatopsia-associated ATF6 mutations and found that they group into three distinct molecular pathomechanisms: class 1 ATF6 mutants show impaired ER-to-Golgi trafficking and diminished regulated intramembrane proteolysis and transcriptional activity; class 2 ATF6 mutants bear the entire ATF6 cytosolic domain with fully intact transcriptional activity and constitutive induction of downstream target genes, even in the absence of ER stress; and class 3 ATF6 mutants have complete loss of transcriptional activity because of absent or defective bZIP domains.
|
28028229 |
2017 |