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
38436085 (PubMed )
Supplement: dmm-17-050546-s1.pdf
Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.
Dieudonné T et al.
Elife, 2022
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
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
Enigmatic functions of ATP8B1: cholestasis, inflammation, phosphoinositide flipping, and cellular homeostasis.
Prince A et al.
Cell Cycle (georgetown, Tex.), 0
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