|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Compound 3 displays higher potency for an ERAP1 variant associated with increased risk of autoimmune disease.
|
31841350 |
2020 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Resolution of the mechanistic details of ERAP1-mediated antigenic peptide generation can have important consequences for pharmacological efforts to regulate the immunopeptidome for therapeutic applications, and for understanding association of ERAP1 alleles with susceptibility to autoimmune disease and cancer.
|
29678301 |
2019 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
In this article, we review the distribution of ERAP1 and ERAP2 gene polymorphisms in various populations; discuss the risk or protective influence of these gene polymorphisms in autoimmune diseases, infectious diseases, and cancers; and highlight how ERAP genetic variations can influence disease associations.
|
30797823 |
2019 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Interestingly, the endoplasmic reticulum aminopeptidase 1 (ERAP1) protein, well known for its aminopeptidase function as a "molecular ruler", trimming peptides prior to their loading onto MHC-I molecules for antigen presentation in the ER, has also been shown to be genetically associated with both autoinflammatory and autoimmune diseases.
|
30817945 |
2019 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Functional polymorphisms in ERAP1 and ERAP2 genes have been associated with predisposition to several diseases including autoimmune diseases, viral infections, and virally induced cancers.
|
31147931 |
2019 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) is a multifunctional enzyme belonging to the M1 family of aminopeptidases and shown to be associated with various autoimmune diseases.
|
30144977 |
2018 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
This review focuses on the ambivalent role of HLA-B27 in autoimmunity and viral protection correlating its functions to the quantitative and qualitative effects of ERAP1 and ERAP2 polymorphisms on their enzymatic activity.
|
28759104 |
2017 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
To determine if these ERAP1 variants also impacted immune responses in vivo, we generated two strains of transgenic mice expressing human ERAP1 genes containing non-synonymous single-nucleotide polymorphisms associated with an increased (ERAP1-High) or decreased (ERAP1-Low) risk for developing autoimmune disease.
|
28814066 |
2017 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Interestingly, the peak eQTL signal overlapped with the AID risk loci in ERAP2 (r<sup>2</sup>>0.94), but were distinct in ERAP1 (r<sup>2</sup><0.4).
|
27829666 |
2016 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
To our knowledge, this is the first report identifying ERAP1 as being involved in modulating innate responses of human immune cells, a finding that may explain why ERAP1 has been genetically associated with several autoimmune diseases.
|
25591727 |
2015 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Single-nucleotide polymorphisms within the exons encoding ERAP1 are associated with autoimmune diseases and cervical carcinoma, but it is not known whether they act independently or as disease-associated haplotypes.
|
23733883 |
2013 |
|
Autoimmune Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
In this review, we first provide a general overview of ERAP1 and ERAP2 genes, their biological functions and their relevancy in autoimmunity.
|
22575366 |
2012 |