Associated Papers
ATP8B1 Deficiency Causes Phosphodiesterase 4-Mediated Glucagon Resistance and Impaired Gluconeogenesis in Mouse and Human Liver.
Chang JC et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
The effect of 4-phenylbutyrate and sodium 4-phenylbutyrate on genetic mutation diseases: A meta-analysis.
Tang W et al.
Medicine, 2025
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
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Long-term liver transplant outcomes for progressive familial intrahepatic cholestasis type 1: The Pittsburgh experience.
Henkel SAF et al.
Pediatric Transplantation, 2021
Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE et al.
Hepatology (baltimore, Md.), 2021
Assessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
Mizutani A et al.
Hepatology Communications, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Novel ATP8B1 Gene Mutations in a Child with Progressive Familial Intrahepatic Cholestasis Type 1.
Rhee ES et al.
Pediatric Gastroenterology, Hepatology & Nutrition, 2019
Development of a Novel Next-Generation Sequencing Assay for Carrier Screening in Old Order Amish and Mennonite Populations of Pennsylvania.
Crowgey EL et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Spectrum of genomic variations in Indian patients with progressive familial intrahepatic cholestasis.
Sharma A et al.
Bmc Gastroenterology, 2018
Rare ER protein misfolding-mistrafficking disorders: Therapeutic developments.
Hegde RN et al.
Tissue & Cell, 2017
Clinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency.
Squires JE et al.
Journal of Pediatric Gastroenterology and Nutrition, 2017
A Novel Truncation Mutation in ATP8B1 Gene in Progressive Familial Intrahepatic Cholestasis.
Sharma A et al.
Indian Pediatrics, 2016
The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator.
van der Mark VA et al.
Biochimica Et Biophysica Acta, 2016
Possible Phenylacetate Hepatotoxicity During 4-Phenylbutyrate Therapy of Byler Disease.
Shneider BL et al.
Journal of Pediatric Gastroenterology and Nutrition, 2016
Byler disease: early natural history.
Morris AL et al.
Journal of Pediatric Gastroenterology and Nutrition, 2015
Genetics of auditory mechano-electrical transduction.
Michalski N et al.
Pflugers Archiv : European Journal of Physiology, 2015
ATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function.
Naik J et al.
Digestive Diseases (basel, Switzerland), 2015
The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells.
van der Mark VA et al.
Biochimica Et Biophysica Acta, 2014
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
Hepatic cytochrome P450 deficiency in mouse models for intrahepatic cholestasis predispose to bile salt-induced cholestasis.
Kunne C et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2014
Intractable itch relieved by 4-phenylbutyrate therapy in patients with progressive familial intrahepatic cholestasis type 1.
Hasegawa Y et al.
Orphanet Journal of Rare Diseases, 2014
Clinical analysis of genome next-generation sequencing data using the Omicia platform.
Coonrod EM et al.
Expert Review of Molecular Diagnostics, 2013
Hepatobiliary transport in health and disease.
Chan J et al.
Clinical Lipidology, 2012
ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor.
Cebecauerová D et al.
Plos One, 2012
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
van der Woerd WL et al.
Best Practice & Research. Clinical Gastroenterology, 2010
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
Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
Pawlikowska L et al.
Journal of Hepatology, 2010
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.
Verhulst PM et al.
Hepatology (baltimore, Md.), 2010
ATP8B1 and ABCB11 analysis in 62 children with normal gamma-glutamyl transferase progressive familial intrahepatic cholestasis (PFIC): phenotypic differences between PFIC1 and PFIC2 and natural history.
Davit-Spraul A et al.
Hepatology (baltimore, Md.), 2010
Strain background modifies phenotypes in the ATP8B1-deficient mouse.
Shah S et al.
Plos One, 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
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
Folmer DE et al.
Hepatology (baltimore, Md.), 2009
ATP8B1 is essential for maintaining normal hearing.
Stapelbroek JM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained.
Cai SY et al.
Gastroenterology, 2009
FIC1-mediated stimulation of FXR activity is decreased with PFIC1 mutations in HepG2 cells.
Koh S et al.
Journal of Gastroenterology, 2009
The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor.
Frankenberg T et al.
Hepatology (baltimore, Md.), 2008
Bile composition in Alagille Syndrome and PFIC patients having Partial External Biliary Diversion.
Emerick KM et al.
Bmc Gastroenterology, 2008
Update on progressive familial intrahepatic cholestasis.
Alissa FT et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
Intestinal bile salt absorption in Atp8b1 deficient mice.
Groen A et al.
Journal of Hepatology, 2007
Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy.
Schneider G et al.
Hepatology (baltimore, Md.), 2007
Atp8b1 deficiency in mice reduces resistance of the canalicular membrane to hydrophobic bile salts and impairs bile salt transport.
Paulusma CC et al.
Hepatology (baltimore, Md.), 2006
FXR: a target for cholestatic syndromes?
Cai SY et al.
Expert Opinion on Therapeutic Targets, 2006
Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation.
Demeilliers C et al.
Hepatology (baltimore, Md.), 2006
Hepatocanalicular transport defects: pathophysiologic mechanisms of rare diseases.
Oude Elferink RP et al.
Gastroenterology, 2006
The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease.
Paulusma CC et al.
Biochimica Et Biophysica Acta, 2005
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
Müllenbach R et al.
Gut, 2005
Genetics of familial intrahepatic cholestasis syndromes.
van Mil SW et al.
Journal of Medical Genetics, 2005