دورية أكاديمية
AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking
| العنوان: | AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking |
|---|---|
| المؤلفون: | Setta-Kaffetzi, Niovi, Simpson, Michael A, Navarini, Alexander A, Patel, Varsha M, Lu, Hui-Chun, Allen, Michael H, Duckworth, Michael, Bachelez, Hervé, Burden, A David, Choon, Siew-Eng, Griffiths, Christopher E M, Kirby, Brian, Kolios, Antonios, Seyger, Marieke M B, Prins, Christa, Smahi, Asma, Trembath, Richard C, Fraternali, Franca, Smith, Catherine H, Barker, Jonathan N, Capon, Francesca |
| المصدر: | Setta-Kaffetzi, Niovi; Simpson, Michael A; Navarini, Alexander A; Patel, Varsha M; Lu, Hui-Chun; Allen, Michael H; Duckworth, Michael; Bachelez, Hervé; Burden, A David; Choon, Siew-Eng; Griffiths, Christopher E M; Kirby, Brian; Kolios, Antonios; Seyger, Marieke M B; Prins, Christa; Smahi, Asma; Trembath, Richard C; Fraternali, Franca; Smith, Catherine H; Barker, Jonathan N; Capon, Francesca (2014). AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking. American Journal of Human Genetics, 94(5):790-797. |
| بيانات النشر: | Cell Press (Elsevier) |
| سنة النشر: | 2014 |
| المجموعة: | University of Zurich (UZH): ZORA (Zurich Open Repository and Archive |
| مصطلحات موضوعية: | Clinic for Immunology, 610 Medicine & health |
| الوصف: | Adaptor protein complex 1 (AP-1) is an evolutionary conserved heterotetramer that promotes vesicular trafficking between the trans-Golgi network and the endosomes. The knockout of most murine AP-1 complex subunits is embryonically lethal, so the identification of human disease-associated alleles has the unique potential to deliver insights into gene function. Here, we report two founder mutations (c.11T>G [p.Phe4Cys] and c.97C>T [p.Arg33Trp]) in AP1S3, the gene encoding AP-1 complex subunit σ1C, in 15 unrelated individuals with a severe autoinflammatory skin disorder known as pustular psoriasis. Because the variants are predicted to destabilize the 3D structure of the AP-1 complex, we generated AP1S3-knockdown cell lines to investigate the consequences of AP-1 deficiency in skin keratinocytes. We found that AP1S3 silencing disrupted the endosomal translocation of the innate pattern-recognition receptor TLR-3 (Toll-like receptor 3) and resulted in a marked inhibition of downstream signaling. These findings identify pustular psoriasis as an autoinflammatory phenotype caused by defects in vesicular trafficking and demonstrate a requirement of AP-1 for Toll-like receptor homeostasis. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 0002-9297 |
| العلاقة: | https://www.zora.uzh.ch/id/eprint/106318/1/2014_Setta-Kaffetzi_AP1S3%20Mutations%20Are%20Associated%20with%20Pustular%20Psoriasis%20and%20Impaired%20Toll-like%20Receptor%203%20Trafficking.pdfTest; info:pmid/24791904; urn:issn:0002-9297 |
| DOI: | 10.5167/uzh-106318 |
| DOI: | 10.1016/j.ajhg.2014.04.005 |
| الإتاحة: | https://doi.org/10.5167/uzh-10631810.1016/j.ajhg.2014.04.005Test https://www.zora.uzh.ch/id/eprint/106318Test/ https://www.zora.uzh.ch/id/eprint/106318/1/2014_Setta-Kaffetzi_AP1S3%20Mutations%20Are%20Associated%20with%20Pustular%20Psoriasis%20and%20Impaired%20Toll-like%20Receptor%203%20Trafficking.pdfTest |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.CA34ECE2 |
| قاعدة البيانات: | BASE |
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