The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations [PDF]
Preeclampsia is a heritable pregnancy disorder that presents new onset hypertension and proteinuria. We have previously reported genetic linkage to preeclampsia on chromosomes 2q, 5q and 13q in an Australian/New Zealand (Aust/NZ) familial cohort. This current study centered on identifying the susceptibility gene(s) at the 5q locus. We first prioritized
Christine E East, Eric K Moses
exaly +4 more sources
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy [PDF]
Birdshot chorioretinopathy (BSCR) is a rare form of autoimmune uveitis that can lead to severe visual impairment. Intriguingly, >95% of cases carry the HLA-A29 allele, which defines the strongest documented HLA association for a human disease. We have conducted a genome-wide association study in 96 Dutch and 27 Spanish cases, and 398 unrelated Dutch ...
Jessica van Setten +2 more
exaly +9 more sources
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ERAP1-ERAP2 haplotypes are associated with ankylosing spondylitis in Polish patients
Human Immunology, 2019The objective of this case-control study was to evaluate the role of four single-nucleotide polymorphisms in the ERAP1 (rs2287987, rs30187, rs27044) and ERAP2 (rs2248374) genes and their haplotypes in predicting the risk for ankylosing spondylitis (AS) on a well-defined Polish population.
Andrzej, Wiśniewski +7 more
openaire +3 more sources
ERAP1-ERAP2 dimers trim MHC I-bound precursor peptides; implications for understanding peptide editing [PDF]
Abstract The processing of MHC class I antigenic precursor peptides by the endoplasmic reticulum aminopeptidase 1 (ERAP1) and ERAP2 is an important event in the cell biology of antigen presentation. To date, the molecular context by which the ERAP enzymes trim precursor peptides, and how ERAPs shape peptide repertoires, remain open ...
Lenong Li +2 more
exaly +3 more sources
EpCAM associates with endoplasmic reticulum aminopeptidase 2 (ERAP2) in breast cancer cells
Biochemical and Biophysical Research Communications, 2013Epithelial cell adhesion molecule (EpCAM) is an epithelial and cancer cell "marker" and there is a cumulative and growing evidence of its signaling role. Its importance has been recognized as part of the breast cancer stem cell phenotype, the tumorigenic breast cancer stem cell is EpCAM(+).
Salah-Eldin, Gadalla +6 more
openaire +2 more sources
AbstractThe endoplasmic reticulum (ER) aminopeptidases ERAP1 and ERAP2 contribute to generate HLA class I binding peptides. Recently, we have shown that the expression of these enzymes is high and coordinated (with each other and with HLA class I molecules) in immortalized B cells, but variable and imbalanced in human tumour cell lines of various non ...
Doriana Fruci +2 more
exaly +5 more sources
Influence of ERAP1 and ERAP2 gene polymorphisms on disease susceptibility in different populations
Human Immunology, 2019The endoplasmic reticulum aminopeptidases (ERAPs), ERAP1 and ERAP2, makes a role in shaping the HLA class I peptidome by trimming peptides to the optimal size in MHC-class I-mediated antigen presentation and educating the immune system to differentiate between self-derived and foreign antigens.
Yufeng Yao, Li Shi
exaly +3 more sources
Intracellular antigen processing by ERAP2: Molecular mechanism and roles in health and disease
Human Immunology, 2019Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) is an intracellular enzyme localized in the ER that has been shown to play roles in the generation of peptides that serve as ligands for MHC class I (MHC-1) molecules. Although ERAP2 has been primarily described as an accessory and complementary enzyme to the homologous ERAP1, several lines of evidence ...
Efstratios Stratikos
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The generation of many HLA class I peptides entails a final trimming step in the endoplasmic reticulum that, in humans, is accomplished by two 'candidate' aminopeptidases. We show here that one of these, ERAP1, was unable to remove several N-terminal amino acids that were trimmed efficiently by the second enzyme, ERAP2.
Saveanu, Loredana +10 more
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M9.2 Dissecting the allelic architecture of ERAP2: a novel preeclampsia susceptibility gene
Pregnancy Hypertension: An International Journal of Women's Cardiovascular Health, 2010Matthew Johnson1, John Blangero1, Christine East2, Rigmor Austgulen3, Shaun Brennecke2, Eric Moses1. 1Department of Genetics, Southwest Foundation for Biomedical Research, San Antonio, TX, USA; 2Department of Perinatal Medicine, Royal Women’s Hospital & Department of Obstetrics & Gynaecology, University of Melbourne, Melbourne, Australia; 3Department ...
Matthew Johnson +5 more
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