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- Title
Autophagy receptor CALCOCO2/NDP52 takes center stage in Crohn disease.
- Authors
Till, Andreas; Lipinski, Simone; Ellinghaus, David; Mayr, Gabriele; Subramani, Suresh; Rosenstiel, Philip; Franke, Andre
- Abstract
To advance understanding of the complex genetics of Crohn disease (CD) we sequenced 42 whole exomes of patients with CD and five healthy control individuals, resulting in identification of a missense mutation in the autophagy receptor calcium binding and coiled-coil domain 2 (CALCOCO2/NDP52) gene. Protein domain modeling and functional studies highlight the potential role of this mutation in controlling NFKB signaling downstream of toll-like receptor (TLR) pathways. We summarize our recent findings and discuss the role of autophagy as a major modulator of proinflammatory signaling in the context of chronic inflammation.
- Publication
Autophagy, 2013, Vol 9, Issue 8, p1256
- ISSN
1554-8635
- Publication type
Journal Article
- DOI
10.4161/auto.25483