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Romanian Journal of Neurology, Volume XXIV, No. 1, 2015
ISSN 1843-0791  |  e-ISSN 2069-6086
ISSN-L 1843-0791
DOI: 10.37897/RJR

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ENDOPLASMIC RETICULUM AMINO PEPTIDASE 1 (ERAP1) IN ANKYLOSING SPONDYLITIS

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ABSTRACT

Recently, endoplasmic reticulum aminopeptidase 1 (ERAP1) gene polymorphisms were associated with ankylosing spondylitis (AS) in genome-wide association studies (GWAS), associations which later were replicated across different populations, including the Romanian population. ERAP1 enzyme was proved to be involved in the final trimming, to the optimal length, of the antigenic peptides before loading them to human leucocyte antigen (HLA) class I molecules, different variants of ERAP1 being able to modify the types of peptides presented by HLA I molecules (including HLA-B27) to the CD8+ T cells. This article presents a detailed description of the functions, structure and the pathogenic potential of ERAP1 in AS.

Keywords: ERAP1, ankylosing spondylitis, HLA-B27, single nucleotide polymorphisms (SNPs)

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