Article
Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis.
EMBO molecular medicine - 1 Apr 2018
Parlato Marianna, Charbit-Henrion Fabienne, Pan Jie, Romano Claudio, Duclaux-Loras Rémi, Le Du Marie-Helene, Warner Neil, Francalanci Paola, Bruneau Julie, Bras Marc, Zarhrate Mohammed, Bègue Bernadette, Guegan Nicolas, Rakotobe Sabine, Kapel Nathalie, De Angelis Paola, Griffiths Anne M, Fiedler Karoline, Crowley Eileen, Ruemmele Frank, Muise Aleixo M, Cerf-Bensussan Nadine
Abstract excerpt
Herein, we report the first identification of biallelic-inherited mutations in ALPI as a Mendelian cause of inflammatory bowel disease in two unrelated patients. ALPI encodes for intestinal phosphatase alkaline, a brush border metalloenzyme that hydrolyses phosphate from the lipid A moiety of lipopolysaccharides and thereby drastically reduces Toll-like receptor 4 agonist activity. Prediction tools and structural...
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