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Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal KJM, Hoffmann PM, Etemadi N, Shield-Artin K, Biben C, Tsai WL, Blake MD, Kuehn HS, Yang D, Anderton H, Silke N, Wachsmuth L, Zheng L, Moura NS, Beck DB, Gutierrez-Cruz G, Ombrello AK, Pinto-Patarroyo GP, Kueh AJ, Herold MJ, Hall C, Wang H, Chae JJ, Dmitrieva NI, McKenzie M, Light A, Barham BK, Jones A, Romeo TM, Zhou Q, Aksentijevich I, Mullikin JC, Gross AJ, Shum AK, Hawkins ED, Masters SL, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J. Lalaoui N, et al. Among authors: shum ak. Nature. 2020 Jan;577(7788):103-108. doi: 10.1038/s41586-019-1828-5. Epub 2019 Dec 11. Nature. 2020. PMID: 31827281 Free PMC article.
COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis.
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RL, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LF, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok PY, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C; Baylor-Hopkins Center for Mendelian Genomics; Boerwinkle E, Eissa NT, Gibbs RA, Lupski JR, Orange JS, Shum AK. Watkin LB, et al. Among authors: shum ak. Nat Genet. 2015 Jun;47(6):654-60. doi: 10.1038/ng.3279. Epub 2015 Apr 20. Nat Genet. 2015. PMID: 25894502 Free PMC article.
Homeostatic regulation of STING by retrograde membrane traffic to the ER.
Mukai K, Ogawa E, Uematsu R, Kuchitsu Y, Kiku F, Uemura T, Waguri S, Suzuki T, Dohmae N, Arai H, Shum AK, Taguchi T. Mukai K, et al. Among authors: shum ak. Nat Commun. 2021 Jan 4;12(1):61. doi: 10.1038/s41467-020-20234-9. Nat Commun. 2021. PMID: 33397928 Free PMC article.
BPIFB1 is a lung-specific autoantigen associated with interstitial lung disease.
Shum AK, Alimohammadi M, Tan CL, Cheng MH, Metzger TC, Law CS, Lwin W, Perheentupa J, Bour-Jordan H, Carel JC, Husebye ES, De Luca F, Janson C, Sargur R, Dubois N, Kajosaari M, Wolters PJ, Chapman HA, Kämpe O, Anderson MS. Shum AK, et al. Sci Transl Med. 2013 Oct 9;5(206):206ra139. doi: 10.1126/scitranslmed.3006998. Sci Transl Med. 2013. PMID: 24107778 Free PMC article.
What's new in the Aire?
Cheng MH, Shum AK, Anderson MS. Cheng MH, et al. Among authors: shum ak. Trends Immunol. 2007 Jul;28(7):321-7. doi: 10.1016/j.it.2007.05.004. Epub 2007 Jun 7. Trends Immunol. 2007. PMID: 17556019 Review.
Analysis of pulmonary features and treatment approaches in the COPA syndrome.
Tsui JL, Estrada OA, Deng Z, Wang KM, Law CS, Elicker BM, Jones KD, Dell SD, Gudmundsson G, Hansdottir S, Helfgott SM, Volpi S, Gattorno M, Waterfield MR, Chan AY, Chung SA, Ley B, Shum AK. Tsui JL, et al. Among authors: shum ak. ERJ Open Res. 2018 Jun 27;4(2):00017-2018. doi: 10.1183/23120541.00017-2018. eCollection 2018 Apr. ERJ Open Res. 2018. PMID: 29977900 Free PMC article.
47 results