Associated Papers
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases.
Matsell E et al.
Disease Models & Mechanisms, 2024
Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.
Dieudonné T et al.
Elife, 2022
Long-term Outcomes of Living-donor Liver Transplantation for Progressive Familial Intrahepatic Cholestasis Type 1.
Okamoto T et al.
Journal of Pediatric Gastroenterology and Nutrition, 2021
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Disease mutations reveal residues critical to the interaction of P4-ATPases with lipid substrates.
Gantzel RH et al.
Scientific Reports, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Phospholipid flippase activities and substrate specificities of human type IV P-type ATPases localized to the plasma membrane.
Takatsu H et al.
The Journal of Biological Chemistry, 2014
Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.
Stone A et al.
The Journal of Biological Chemistry, 2012
Mutation specific drug therapy for progressive familial or benign recurrent intrahepatic cholestasis: a new tool in a near future?
Gonzales E et al.
Journal of Hepatology, 2010
Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
van der Velden LM et al.
Hepatology (baltimore, Md.), 2010
Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation.
Miyagawa-Hayashino A et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2009
Effects of bezafibrate on dyslipidemia with cholestasis in children with familial intrahepatic cholestasis-1 deficiency manifesting progressive familial intrahepatic cholestasis.
Nagasaka H et al.
Metabolism: Clinical and Experimental, 2009
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp LW et al.
Hepatology (baltimore, Md.), 2004