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| 001 | 268464 | ||
| 005 | 20240317002755.0 | ||
| 024 | 7 | _ | |a 10.1126/sciimmunol.adi9769 |2 doi |
| 024 | 7 | _ | |a pmid:38207055 |2 pmid |
| 024 | 7 | _ | |a altmetric:158298957 |2 altmetric |
| 037 | _ | _ | |a DZNE-2024-00216 |
| 041 | _ | _ | |a English |
| 082 | _ | _ | |a 610 |
| 100 | 1 | _ | |a Wolf, Christine |0 0000-0002-9092-1684 |b 0 |
| 245 | _ | _ | |a UNC93B1 variants underlie TLR7-dependent autoimmunity. |
| 260 | _ | _ | |a Washington, DC |c 2024 |b AAAS |
| 336 | 7 | _ | |a article |2 DRIVER |
| 336 | 7 | _ | |a Output Types/Journal article |2 DataCite |
| 336 | 7 | _ | |a Journal Article |b journal |m journal |0 PUB:(DE-HGF)16 |s 1710238325_4388 |2 PUB:(DE-HGF) |
| 336 | 7 | _ | |a ARTICLE |2 BibTeX |
| 336 | 7 | _ | |a JOURNAL_ARTICLE |2 ORCID |
| 336 | 7 | _ | |a Journal Article |0 0 |2 EndNote |
| 520 | _ | _ | |a UNC93B1 is critical for trafficking and function of nucleic acid-sensing Toll-like receptors (TLRs) TLR3, TLR7, TLR8, and TLR9, which are essential for antiviral immunity. Overactive TLR7 signaling induced by recognition of self-nucleic acids has been implicated in systemic lupus erythematosus (SLE). Here, we report UNC93B1 variants (E92G and R336L) in four patients with early-onset SLE. Patient cells or mouse macrophages carrying the UNC93B1 variants produced high amounts of TNF-α and IL-6 and upon stimulation with TLR7/TLR8 agonist, but not with TLR3 or TLR9 agonists. E92G causes UNC93B1 protein instability and reduced interaction with TLR7, leading to selective TLR7 hyperactivation with constitutive type I IFN signaling. Thus, UNC93B1 regulates TLR subtype-specific mechanisms of ligand recognition. Our findings establish a pivotal role for UNC93B1 in TLR7-dependent autoimmunity and highlight the therapeutic potential of targeting TLR7 in SLE. |
| 536 | _ | _ | |a 351 - Brain Function (POF4-351) |0 G:(DE-HGF)POF4-351 |c POF4-351 |f POF IV |x 0 |
| 588 | _ | _ | |a Dataset connected to CrossRef, PubMed, , Journals: pub.dzne.de |
| 650 | _ | 7 | |a Toll-Like Receptor 7 |2 NLM Chemicals |
| 650 | _ | 7 | |a Toll-Like Receptor 9 |2 NLM Chemicals |
| 650 | _ | 7 | |a Toll-Like Receptor 8 |2 NLM Chemicals |
| 650 | _ | 7 | |a Toll-Like Receptor 3 |2 NLM Chemicals |
| 650 | _ | 7 | |a TLR7 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a UNC93B1 protein, human |2 NLM Chemicals |
| 650 | _ | 7 | |a Membrane Transport Proteins |2 NLM Chemicals |
| 650 | _ | 7 | |a UNC93B1 protein, mouse |2 NLM Chemicals |
| 650 | _ | 2 | |a Mice |2 MeSH |
| 650 | _ | 2 | |a Animals |2 MeSH |
| 650 | _ | 2 | |a Humans |2 MeSH |
| 650 | _ | 2 | |a Toll-Like Receptor 7: genetics |2 MeSH |
| 650 | _ | 2 | |a Autoimmunity: genetics |2 MeSH |
| 650 | _ | 2 | |a Toll-Like Receptor 9: metabolism |2 MeSH |
| 650 | _ | 2 | |a Toll-Like Receptor 8 |2 MeSH |
| 650 | _ | 2 | |a Toll-Like Receptor 3: metabolism |2 MeSH |
| 650 | _ | 2 | |a Lupus Erythematosus, Systemic: genetics |2 MeSH |
| 650 | _ | 2 | |a Membrane Transport Proteins |2 MeSH |
| 700 | 1 | _ | |a Lim, Ee Lyn |0 0000-0002-5173-2979 |b 1 |
| 700 | 1 | _ | |a Mokhtari, Mohammad |0 0000-0003-0658-2147 |b 2 |
| 700 | 1 | _ | |a Kind, Barbara |0 0009-0002-5254-6411 |b 3 |
| 700 | 1 | _ | |a Odainic, Alexandru |0 0000-0002-2806-6904 |b 4 |
| 700 | 1 | _ | |a Lara-Villacanas, Eusebia |b 5 |
| 700 | 1 | _ | |a Koss, Sarah |b 6 |
| 700 | 1 | _ | |a Mages, Simon |0 0000-0003-1447-6811 |b 7 |
| 700 | 1 | _ | |a Menzel, Katharina |0 0009-0001-8558-3692 |b 8 |
| 700 | 1 | _ | |a Engel, Kerstin |b 9 |
| 700 | 1 | _ | |a Dückers, Gregor |b 10 |
| 700 | 1 | _ | |a Bernbeck, Benedikt |b 11 |
| 700 | 1 | _ | |a Schneider, Dominik T |0 0000-0001-8153-1601 |b 12 |
| 700 | 1 | _ | |a Siepermann, Kathrin |b 13 |
| 700 | 1 | _ | |a Niehues, Tim |0 0000-0002-9945-8833 |b 14 |
| 700 | 1 | _ | |a Goetzke, Carl Christoph |0 0000-0003-3407-7631 |b 15 |
| 700 | 1 | _ | |a Durek, Pawel |0 0000-0002-6179-0670 |b 16 |
| 700 | 1 | _ | |a Minden, Kirsten |b 17 |
| 700 | 1 | _ | |a Dörner, Thomas |0 0000-0002-6478-7725 |b 18 |
| 700 | 1 | _ | |a Stittrich, Anna |0 0000-0002-0500-0304 |b 19 |
| 700 | 1 | _ | |a Szelinski, Franziska |0 0000-0001-7850-5971 |b 20 |
| 700 | 1 | _ | |a Guerra, Gabriela Maria |0 0000-0002-9773-4929 |b 21 |
| 700 | 1 | _ | |a Massoud, Mona |b 22 |
| 700 | 1 | _ | |a Bieringer, Markus |0 0000-0002-5561-3635 |b 23 |
| 700 | 1 | _ | |a de Oliveira Mann, Carina C |0 0000-0002-1852-9880 |b 24 |
| 700 | 1 | _ | |a Beltrán, Eduardo |0 0000-0002-7266-4098 |b 25 |
| 700 | 1 | _ | |a Kallinich, Tilmann |0 0000-0003-2404-9397 |b 26 |
| 700 | 1 | _ | |a Mashreghi, Mir-Farzin |0 0000-0002-8015-6907 |b 27 |
| 700 | 1 | _ | |a Schmidt, Susanne V |0 0000-0001-9561-2752 |b 28 |
| 700 | 1 | _ | |a Latz, Eicke |0 P:(DE-2719)2000062 |b 29 |u dzne |
| 700 | 1 | _ | |a Klughammer, Johanna |0 0000-0002-3628-9278 |b 30 |
| 700 | 1 | _ | |a Majer, Olivia |0 0000-0001-9467-4898 |b 31 |
| 700 | 1 | _ | |a Lee-Kirsch, Min Ae |0 0000-0002-4008-9869 |b 32 |
| 773 | _ | _ | |a 10.1126/sciimmunol.adi9769 |g Vol. 9, no. 92, p. eadi9769 |0 PERI:(DE-600)2862556-0 |n 92 |p eadi9769 |t Science immunology |v 9 |y 2024 |x 2470-9468 |
| 856 | 4 | _ | |u https://pub.dzne.de/record/268464/files/DZNE-2024-00216_Restricted.pdf |
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