Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

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 lipopo...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:EMBO Mol Med
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: John Wiley and Sons Inc. 2018
Pynciau:
Research Articles
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5887907/
https://ncbi.nlm.nih.gov/pubmed/29567797
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201708483
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