A flippase‐independent function of ATP8B1, the protein affected in familial intrahepatic cholestasis type 1, is required for apical protein expression and microvillus formation in polarized epithelial cells
Patricia M. Verhulst, Lieke M. van der Velden, Viola Oorschot, Ernst E. van Faassen, Judith Klumperman, Roderick H. J. Houwen, Thomas G. Pomorski, Joost C. M. Holthuis, Leo W. J. Klomp – 23 May 2010 – Mutations in ATP8B1 cause familial intrahepatic cholestasis type 1, a spectrum of disorders characterized by intrahepatic cholestasis, reduced growth, deafness, and diarrhea.