In Silico and In Vitro Analysis of IL36RN Alterations Reveals Critical Residues for the Function of the Interleukin-36 Receptor Complex
Tài liệu tham khảo
Accetturo, 2020, Improvement of MEFV gene variants classification to aid treatment decision making in familial Mediterranean fever, Rheumatology (Oxford), 59, 754, 10.1093/rheumatology/kez332
Akdel, 2022, A structural biology community assessment of AlphaFold2 applications, Nat Struct Mol Biol, 29, 1056, 10.1038/s41594-022-00849-w
Altschul, 1990, Basic local alignment search tool, J Mol Biol, 215, 403, 10.1016/S0022-2836(05)80360-2
Bachelez, 2019, Inhibition of the Interleukin-36 pathway for the treatment of generalized pustular psoriasis, N Engl J Med, 380, 981, 10.1056/NEJMc1811317
Bachelez, 2021, Trial of spesolimab for generalized pustular psoriasis, N Engl J Med, 385, 2431, 10.1056/NEJMoa2111563
Bal, 2019, Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome, Exp Dermatol, 28, 1114, 10.1111/exd.13387
Bassoy, 2018, Regulation and function of interleukin-36 cytokines, Immunol Rev, 281, 169, 10.1111/imr.12610
Baum, 2022, Pustular psoriasis: molecular pathways and effects of spesolimab in generalized pustular psoriasis, J Allergy Clin Immunol, 149, 1402, 10.1016/j.jaci.2021.09.035
Bissonnette, 2023, Spesolimab, an anti-interleukin-36 receptor antibody, in patients with moderate-to-severe atopic dermatitis: results from a multicenter, randomized, double-blind, placebo-controlled, phase IIa study, J Eur Acad Dermatol Venereol, 37, 549, 10.1111/jdv.18727
Blair, 2022, Spesolimab: first approval, Drugs, 82, 1681, 10.1007/s40265-022-01801-4
Buel, 2022, Can AlphaFold2 predict the impact of missense mutations on structure?, Nat Struct Mol Biol, 29, 1, 10.1038/s41594-021-00714-2
Chaudhury, 2011, Benchmarking and analysis of protein docking performance in Rosetta v3.2, PLoS ONE, 6, 10.1371/journal.pone.0022477
Davydov, 2010, Identifying a high fraction of the human genome to be under selective constraint using GERP++, PLoS Comput Biol, 6, 10.1371/journal.pcbi.1001025
de Graaf, 2022, Interleukin-38 in health and disease, Cytokine, 152, 10.1016/j.cyto.2022.155824
Fraternali, 2002, Parameter optimized surfaces (POPS): analysis of key interactions and conformational changes in the ribosome, Nucleic Acids Res, 30, 2950, 10.1093/nar/gkf373
Han, 2020, IL-36 family cytokines in protective versus destructive inflammation, Cell Signal, 75, 10.1016/j.cellsig.2020.109773
Høie, 2022, Predicting and interpreting large-scale mutagenesis data using analyses of protein stability and conservation, Cell Rep, 38, 10.1016/j.celrep.2021.110207
Hwang, 2022, A review of IL-36: an emerging therapeutic target for inflammatory dermatoses, J Dermatolog Treat, 33, 2711, 10.1080/09546634.2022.2067819
Ioannidis, 2016, REVEL: an ensemble method for predicting the pathogenicity of rare missense variants, Am J Hum Genet, 99, 877, 10.1016/j.ajhg.2016.08.016
Jumper, 2021, Highly accurate protein structure prediction with AlphaFold, Nature, 596, 583, 10.1038/s41586-021-03819-2
Larson, 2020, X-ray crystal structure localizes the mechanism of inhibition of an IL-36R antagonist monoclonal antibody to interaction with Ig1 and Ig2 extra cellular domains, Protein Sci, 29, 1679, 10.1002/pro.3862
Maçães, 2022, Generalized pustular psoriasis: the new era of treatment with IL-36 receptor inhibitors, J Dermatolog Treat, 33, 2911, 10.1080/09546634.2022.2089335
Mahil, 2017, An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target, Sci Transl Med, 9, eaan2514, 10.1126/scitranslmed.aan2514
Marrakchi, 2011, Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis, N Engl J Med, 365, 620, 10.1056/NEJMoa1013068
Matsushima, 2022, Interleukin-8: an evolving chemokine, Cytokine, 153, 10.1016/j.cyto.2022.155828
Notredame, 2000, A novel method for fast and accurate multiple sequence alignment, J Mol Biol, 302, 205, 10.1006/jmbi.2000.4042
Omoyinmi, 2017, Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis, PLoS ONE, 12, 10.1371/journal.pone.0181874
Onoufriadis, 2011, Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis, Am J Hum Genet, 89, 432, 10.1016/j.ajhg.2011.07.022
Pak, 2023, Using AlphaFold to predict the impact of single mutations on protein stability and function, PLoS ONE, 18, 10.1371/journal.pone.0282689
Pires, 2014, mCSM: predicting the effects of mutations in proteins using graph-based signatures, Bioinformatics, 30, 335, 10.1093/bioinformatics/btt691
Ponzoni, 2020, Rhapsody: predicting the pathogenicity of human missense variants, Bioinformatics, 36, 3084, 10.1093/bioinformatics/btaa127
Rentzsch, 2019, CADD: predicting the deleteriousness of variants throughout the human genome, Nucleic Acids Res, 47, D886, 10.1093/nar/gky1016
Rodrigues, 2019, mCSM-PPI2: predicting the effects of mutations on protein-protein interactions, Nucleic Acids Res, 47, W338, 10.1093/nar/gkz383
Sahni, 2015, Widespread macromolecular interaction perturbations in human genetic disorders, Cell, 161, 647, 10.1016/j.cell.2015.04.013
Swindell, 2018, RNA-seq analysis of IL-1b and IL-36 responses in epidermal keratinocytes identifies a shared MyD88-dependent gene signature, Front Immunol, 9, 80, 10.3389/fimmu.2018.00080
Tauber, 2016, IL36RN mutations affect protein expression and function: A basis for genotype-phenotype correlation in pustular diseases, J Invest Dermatol, 136, 1811, 10.1016/j.jid.2016.04.038
Todorović, 2019, Small molecule IL-36gamma antagonist as a novel therapeutic approach for plaque psoriasis, Sci Rep, 9, 9089, 10.1038/s41598-019-45626-w
Varadi, 2022, AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models, Nucleic Acids Res, 50, D439, 10.1093/nar/gkab1061
Wang, 2010, Structural insights into the assembly and activation of IL-1beta with its receptors, Nat Immunol, 11, 905, 10.1038/ni.1925
Wang, 2018, RNA sequencing-based longitudinal transcriptomic profiling gives novel insights into the disease mechanism of generalized pustular psoriasis, BMC Med Genomics, 11, 52, 10.1186/s12920-018-0369-3
Waterhouse, 2018, SWISS-MODEL: homology modelling of protein structures and complexes, Nucleic Acids Res, 46, W296, 10.1093/nar/gky427
Williams, 2018, MolProbity: more and better reference data for improved all-atom structure validation, Protein Sci, 27, 293, 10.1002/pro.3330
Zea-Vera, 2019, Interleukin-36 receptor antagonist deficiency (DITRA) with a novel IL36RN homozygous mutation c.200G > T (P.Cys67Phe) in a Young Colombian Woman, J Clin Immunol, 39, 261, 10.1007/s10875-019-00622-7
Zhang, 2020, MutaBind2: predicting the impacts of single and multiple mutations on protein-protein interactions, iScience, 23
Zhukov, 2022, Preclinical efficacy investigation of human neutrophil elastase inhibitor sivelestat in animal model of psoriasis, Skin Health Dis, 2, e90, 10.1002/ski2.90
Bal, 2019, Mutation in IL36RN impairs the processing and regulatory function of the interleukin-36-receptor antagonist and is associated with DITRA syndrome, Exp Dermatol, 28, 1114, 10.1111/exd.13387
Baum, 2022, Pustular psoriasis: molecular pathways and effects of spesolimab in generalized pustular psoriasis, J Allergy Clin Immunol, 149, 1402, 10.1016/j.jaci.2021.09.035
Ellingford, 2016, A novel mutation in IL36RN underpins childhood pustular dermatosis, J Eur Acad Dermatol Venereol, 30, 302, 10.1111/jdv.13034
Farooq, 2013, Mutation analysis of the IL 36 RN gene in 14 Japanese patients with generalized pustular psoriasis, Hum Mutat, 34, 176, 10.1002/humu.22203
Hayashi, 2014, Novel IL36RN gene mutation revealed by analysis of 8 Japanese patients with generalized pustular psoriasis, J Dermatol Sci, 76, 267, 10.1016/j.jdermsci.2014.10.008
Kanazawa, 2013, Novel IL36RN mutation in a Japanese case of early onset generalized pustular psoriasis, J Dermatol, 40, 749, 10.1111/1346-8138.12227
Körber, 2013, Mutations in IL36RN in patients with generalized pustular psoriasis, J Invest Dermatol, 133, 2634, 10.1038/jid.2013.214
Li, 2013, Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris, J Invest Dermatol, 133, 2637, 10.1038/jid.2013.267
Li, 2014, Mutation analysis of the IL36RN gene in Chinese patients with generalized pustular psoriasis with/without psoriasis vulgaris, J Dermatol Sci, 76, 132, 10.1016/j.jdermsci.2014.08.007
Mahil, 2017, An analysis of IL-36 signature genes and individuals with IL1RL2 knockout mutations validates IL-36 as a psoriasis therapeutic target, Sci Transl Med, 9, eaan2514, 10.1126/scitranslmed.aan2514
Marrakchi, 2011, Interleukin-36–receptor antagonist deficiency and generalized pustular psoriasis, N Engl J Med, 365, 620, 10.1056/NEJMoa1013068
Mössner, 2018, The genetic basis for most patients with pustular skin disease remains elusive, Br J Dermatol, 178, 740, 10.1111/bjd.15867
Onoufriadis, 2011, Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis, Am J Hum Genet, 89, 432, 10.1016/j.ajhg.2011.07.022
Schneider, 2012, NIH Image to ImageJ: 25 years of image analysis, Nat Methods, 9, 671, 10.1038/nmeth.2089
Setta-Kaffetzi, 2013, Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes, J Invest Dermatol, 133, 1366, 10.1038/jid.2012.490
Takeichi, 2017, A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis, J Dermatol Sci, 85, 58, 10.1016/j.jdermsci.2016.10.009
Tauber, 2016, IL36RN mutations affect protein expression and function: A basis for genotype-phenotype correlation in pustular diseases, J Invest Dermatol, 136, 1811, 10.1016/j.jid.2016.04.038
Wang, 2018, RNA sequencing-based longitudinal transcriptomic profiling gives novel insights into the disease mechanism of generalized pustular psoriasis, BMC Med Genomics, 11, 52, 10.1186/s12920-018-0369-3
Wang, 2016, Correlation of IL36RN mutation with different clinical features of pustular psoriasis in Chinese patients, Arch Dermatol Res, 308, 55, 10.1007/s00403-015-1611-x