Literature DB >> 25142031

Genetic associations and functional characterization of M1 aminopeptidases and immune-mediated diseases.

N Agrawal1, M A Brown1.   

Abstract

Endosplasmic reticulum aminopeptidase 1 (ERAP1), endoplasmic reticulum aminopeptidase 2 (ERAP2) and puromycin-sensitive aminopeptidase (NPEPPS) are key zinc metallopeptidases that belong to the oxytocinase subfamily of M1 aminopeptidase family. NPEPPS catalyzes the processing of proteosome-derived peptide repertoire followed by trimming of antigenic peptides by ERAP1 and ERAP2 for presentation on major histocompatibility complex (MHC) Class I molecules. A series of genome-wide association studies have demonstrated associations of these aminopeptidases with a range of immune-mediated diseases such as ankylosing spondylitis, psoriasis, Behçet's disease, inflammatory bowel disease and type I diabetes, and significantly, genetic interaction between some aminopeptidases and HLA Class I loci with which these diseases are strongly associated. In this review, we highlight the current state of understanding of the genetic associations of this class of genes, their functional role in disease, and potential as therapeutic targets.

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Year:  2014        PMID： 25142031     DOI： 10.1038/gene.2014.46

Source DB:  PubMed          Journal:  Genes Immun        ISSN： 1466-4879            Impact factor:   2.676


  61 in total

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Authors:  Nigil Haroon; Robert D Inman
Journal:  Nat Rev Rheumatol       Date:  2010-06-08       Impact factor: 20.543

Review 2.  Genetics of ankylosing spondylitis.

Authors:  Matthew A Brown
Journal:  Curr Opin Rheumatol       Date:  2010-03       Impact factor: 5.006

Review 3.  ERAP1 in ankylosing spondylitis: genetics, biology and pathogenetic role.

Authors:  Carlos Alvarez-Navarro; José A López de Castro
Journal:  Curr Opin Rheumatol       Date:  2013-07       Impact factor: 5.006

4.  Degradation of dynorphin-related peptides by the puromycin-sensitive aminopeptidase and aminopeptidase M.

Authors:  A Safavi; L B Hersh
Journal:  J Neurochem       Date:  1995-07       Impact factor: 5.372

5.  Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese.

Authors:  Stuart I Davidson; Yu Liu; Patrick A Danoy; Xin Wu; Gethin P Thomas; Lei Jiang; Linyun Sun; Niansong Wang; Jun Han; Huanxing Han; Peter M Visscher; Matthew A Brown; Huji Xu
Journal:  Ann Rheum Dis       Date:  2010-11-10       Impact factor: 19.103

6.  Mutation of active site residues of the puromycin-sensitive aminopeptidase: conversion of the enzyme into a catalytically inactive binding protein.

Authors:  Michael W Thompson; Meera Govindaswami; Louis B Hersh
Journal:  Arch Biochem Biophys       Date:  2003-05-15       Impact factor: 4.013

7.  Genome sequence of the Brown Norway rat yields insights into mammalian evolution.

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Journal:  Nature       Date:  2004-04-01       Impact factor: 49.962

8.  Structural basis for antigenic peptide precursor processing by the endoplasmic reticulum aminopeptidase ERAP1.

Authors:  Tina T Nguyen; Shih-Chung Chang; Irini Evnouchidou; Ian A York; Christos Zikos; Kenneth L Rock; Alfred L Goldberg; Efstratios Stratikos; Lawrence J Stern
Journal:  Nat Struct Mol Biol       Date:  2011-04-10       Impact factor: 15.369

9.  Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci.

Authors:  John D Reveille; Anne-Marie Sims; Patrick Danoy; David M Evans; Paul Leo; Jennifer J Pointon; Rui Jin; Xiaodong Zhou; Linda A Bradbury; Louise H Appleton; John C Davis; Laura Diekman; Tracey Doan; Alison Dowling; Ran Duan; Emma L Duncan; Claire Farrar; Johanna Hadler; David Harvey; Tugce Karaderi; Rebecca Mogg; Emma Pomeroy; Karena Pryce; Jacqueline Taylor; Laurie Savage; Panos Deloukas; Vasudev Kumanduri; Leena Peltonen; Sue M Ring; Pamela Whittaker; Evgeny Glazov; Gethin P Thomas; Walter P Maksymowych; Robert D Inman; Michael M Ward; Millicent A Stone; Michael H Weisman; B Paul Wordsworth; Matthew A Brown
Journal:  Nat Genet       Date:  2010-01-10       Impact factor: 38.330

10.  Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus.

Authors:  E Y M G Fung; D J Smyth; J M M Howson; J D Cooper; N M Walker; H Stevens; L S Wicker; J A Todd
Journal:  Genes Immun       Date:  2008-12-25       Impact factor: 2.676
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  14 in total

1.  The Human Leukocyte Antigen (HLA)-B27 Peptidome in Vivo, in Spondyloarthritis-susceptible HLA-B27 Transgenic Rats and the Effect of Erap1 Deletion.

Authors:  Eilon Barnea; Dganit Melamed Kadosh; Yael Haimovich; Nimman Satumtira; Martha L Dorris; Mylinh T Nguyen; Robert E Hammer; Tri M Tran; Robert A Colbert; Joel D Taurog; Arie Admon
Journal:  Mol Cell Proteomics       Date:  2017-02-10       Impact factor: 5.911

Review 2.  Artificial Intelligence Predictive Models of Response to Cytotoxic Chemotherapy Alone or Combined to Targeted Therapy for Metastatic Colorectal Cancer Patients: A Systematic Review and Meta-Analysis.

Authors:  Valentina Russo; Eleonora Lallo; Armelle Munnia; Miriana Spedicato; Luca Messerini; Romina D'Aurizio; Elia Giuseppe Ceroni; Giulia Brunelli; Antonio Galvano; Antonio Russo; Ida Landini; Stefania Nobili; Marcello Ceppi; Marco Bruzzone; Fabio Cianchi; Fabio Staderini; Mario Roselli; Silvia Riondino; Patrizia Ferroni; Fiorella Guadagni; Enrico Mini; Marco Peluso
Journal:  Cancers (Basel)       Date:  2022-08-19       Impact factor: 6.575

3.  ERAPs Reduce In Vitro HIV Infection by Activating Innate Immune Response.

Authors:  Irma Saulle; Ivana Marventano; Marina Saresella; Claudia Vanetti; Micaela Garziano; Claudio Fenizia; Daria Trabattoni; Mario Clerici; Mara Biasin
Journal:  J Immunol       Date:  2021-02-22       Impact factor: 5.422

Review 4.  10 Years of GWAS Discovery: Biology, Function, and Translation.

Authors:  Peter M Visscher; Naomi R Wray; Qian Zhang; Pamela Sklar; Mark I McCarthy; Matthew A Brown; Jian Yang
Journal:  Am J Hum Genet       Date:  2017-07-06       Impact factor: 11.025

5.  Trisomy 21 causes changes in the circulating proteome indicative of chronic autoinflammation.

Authors:  Kelly D Sullivan; Donald Evans; Ahwan Pandey; Thomas H Hraha; Keith P Smith; Neil Markham; Angela L Rachubinski; Kristine Wolter-Warmerdam; Francis Hickey; Joaquin M Espinosa; Thomas Blumenthal
Journal:  Sci Rep       Date:  2017-11-01       Impact factor: 4.379

6.  Generation and differentiation of induced pluripotent stem cells reveal ankylosing spondylitis risk gene expression in bone progenitors.

Authors:  Gerlinde Layh-Schmitt; Shajia Lu; Fatemeh Navid; Stephen R Brooks; Emily Lazowick; Kathryn M Davis; Cristina Montagna; Massimo Gadina; Robert A Colbert
Journal:  Clin Rheumatol       Date:  2016-11-18       Impact factor: 2.980

7.  Discovery and Optimization of a Series of Benzofuran Selective ERAP1 Inhibitors: Biochemical and In Silico Studies.

Authors:  Safia Deddouche-Grass; Cyrielle Andouche; Felix Bärenz; Célia Halter; Arnaud Hohwald; Louison Lebrun; Nathalie Membré; Renaud Morales; Nicolas Muzet; Matthieu Poirot; Morgane Reynaud; Véronique Roujean; Fabienne Weber; André Zimmermann; Rama Heng; Nicolas Basse
Journal:  ACS Med Chem Lett       Date:  2021-06-04       Impact factor: 4.632

8.  Mammalian Glutamyl Aminopeptidase Genes (ENPEP) and Proteins: Comparative Studies of a Major Contributor to Arterial Hypertension.

Authors:  Roger S Holmes; Kimberly D Spradling-Reeves; Laura A Cox
Journal:  J Data Mining Genomics Proteomics       Date:  2017-06-13

Review 9.  RUNX3 and T-Bet in Immunopathogenesis of Ankylosing Spondylitis-Novel Targets for Therapy?

Authors:  Matteo Vecellio; Carla J Cohen; Amity R Roberts; Paul B Wordsworth; Tony J Kenna
Journal:  Front Immunol       Date:  2019-01-10       Impact factor: 7.561

10.  Targeted Analysis of Serum Proteins Encoded at Known Inflammatory Bowel Disease Risk Loci.

Authors:  Kimi Drobin; Ghazaleh Assadi; Mun-Gwan Hong; Eni Andersson; Claudia Fredolini; Björn Forsström; Anna Reznichenko; Tahmina Akhter; Weronica E Ek; Ferdinando Bonfiglio; Mark Berner Hansen; Kristian Sandberg; Dario Greco; Dirk Repsilber; Jochen M Schwenk; Mauro D'Amato; Jonas Halfvarson
Journal:  Inflamm Bowel Dis       Date:  2019-01-10       Impact factor: 5.325
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