Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport
Coen C. Paulusma, Annemiek Groen, Cindy Kunne, Kam S. Ho‐Mok, Astrid L. Spijkerboer, D. Rudi de Waart, Frans J. Hoek, Heleen Vreeling, Kees A. Hoeben, Jan van Marle, Ludmila Pawlikowska, Laura N. Bull, Alan F. Hofmann, A. S. Knisely, Ronald P. J. Oude Elferink – 23 June 2006 – Progressive familial intrahepatic cholestasis type 1 (PFIC1, Byler disease, OMIM 211600) is a severe inherited liver disease caused by mutations in ATP8B1. ATP8B1 is a member of the type 4 subfamily of P‐type ATPases, which are phospholipid flippases.