Article
Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense.
Proceedings of the National Academy of Sciences of the United States of America - 27 May 2014
Lassen Kara G, Kuballa Petric, Conway Kara L, Patel Khushbu K, Becker Christine E, Peloquin Joanna M, Villablanca Eduardo J, Norman Jason M, Liu Ta-Chiang, Heath Robert J, Becker Morgan L, Fagbami Lola, Horn Heiko, Mercer Johnathan, Yilmaz Omer H, Jaffe Jacob D, Shamji Alykhan F, Bhan Atul K, Carr Steven A, Daly Mark J, Virgin Herbert W, Schreiber Stuart L, Stappenbeck Thaddeus S, Xavier Ramnik J
Abstract excerpt
A coding polymorphism (Thr300Ala) in the essential autophagy gene, autophagy related 16-like 1 (ATG16L1), confers increased risk for the development of Crohn disease, although the mechanisms by which single disease-associated polymorphisms contribute to pathogenesis have been difficult to dissect given that environmental factors likely influence disease initiation in these patients. Here we introduce a knock-in...
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