non-cleavable RIPK1 variants [cytosol]

Stable Identifier
R-HSA-9693933
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
31827281 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

Nature 2020
31827280 A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

Tao, P, Sun, J, Wu, Z, Wang, S, Wang, J, Li, W, Pan, H, Bai, R, Zhang, J, Wang, Y, Lee, PY, Ying, W, Zhou, Q, Hou, J, Wang, W, Sun, B, Yang, M, Liu, D, Fang, R, Han, H, Yang, Z, Huang, X, Li, H, Deuitch, N, Zhang, Y, Dissanayake, D, Haude, K, McWalter, K, Roadhouse, C, MacKenzie, JJ, Laxer, RM, Aksentijevich, I, Yu, X, Wang, X, Yuan, J, Zhou, Q

Nature 2020
Participants
Participates
Disease
Name Identifier Synonyms
genetic disease DOID:630
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