Article
A Crohn's disease variant in Atg16l1 enhances its degradation by caspase 3.
Nature - 27 Feb 2014
Murthy Aditya, Li Yun, Peng Ivan, Reichelt Mike, Katakam Anand Kumar, Noubade Rajkumar, Roose-Girma Merone, DeVoss Jason, Diehl Lauri, Graham Robert R, van Lookeren Campagne Menno
Abstract excerpt
Crohn's disease is a debilitating inflammatory bowel disease (IBD) that can involve the entire digestive tract. A single-nucleotide polymorphism (SNP) encoding a missense variant in the autophagy gene ATG16L1 (rs2241880, Thr300Ala) is strongly associated with the incidence of Crohn's disease. Numerous studies have demonstrated the effect of ATG16L1 deletion or deficiency; however, the molecular consequences of...
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