| Activation and substrate specificity of the human P4-ATPase ATP8B1. | Activation and substrate specificity of the human P4-ATPase ATP8B1.
Dieudonné T, Kümmerer F, Laursen MJ, Stock C, Flygaard RK, Khalid S, Lenoir G, Lyons JA, Lindorff-Larsen K, Nissen P., Free PMC Article | 11/21/2023 |
| ATP8B1: A prognostic prostate cancer biomarker identified via genetic analysis. | ATP8B1: A prognostic prostate cancer biomarker identified via genetic analysis.
Chen LC, Huang SP, Shih CT, Li CY, Chen YT, Huang CY, Yu CC, Lin VC, Lee CH, Geng JH, Bao BY. | 03/31/2023 |
| ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells. | ATP8B1 Deficiency Results in Elevated Mitochondrial Phosphatidylethanolamine Levels and Increased Mitochondrial Oxidative Phosphorylation in Human Hepatoma Cells.
Gómez-Mellado VE, Chang JC, Ho-Mok KS, Bernardino Morcillo C, Kersten RHJ, Oude Elferink RPJ, Verhoeven AJ, Paulusma CC., Free PMC Article | 11/5/2022 |
| Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort. | Heterozygous mutations of ATP8B1, ABCB11 and ABCB4 cause mild forms of Progressive Familial Intrahepatic Cholestasis in a pediatric cohort.
Mínguez Rodríguez B, Molera Busoms C, Martorell Sampol L, García Romero R, Colomé Rivero G, Martín de Carpi J. | 10/15/2022 |
| Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1. | Clinical phenotype of adult-onset liver disease in patients with variants in ABCB4, ABCB11, and ATP8B1.
Nayagam JS, Foskett P, Strautnieks S, Agarwal K, Miquel R, Joshi D, Thompson RJ., Free PMC Article | 10/8/2022 |
| Modulation of ATP8B1 Gene Expression in Colorectal Cancer Cells Suggest its Role as a Tumor Suppressor. | Modulation of ATP8B1 Gene Expression in Colorectal Cancer Cells Suggest its Role as a Tumor Suppressor.
Althenayyan S, AlGhamdi A, AlMuhanna MH, Hawsa E, Aldeghaither D, Iqbal J, Mohammad S, Aziz MA. | 07/30/2022 |
| Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders. | Autoinhibition and regulation by phosphoinositides of ATP8B1, a human lipid flippase associated with intrahepatic cholestatic disorders.
Dieudonné T, Herrera SA, Laursen MJ, Lejeune M, Stock C, Slimani K, Jaxel C, Lyons JA, Montigny C, Pomorski TG, Nissen P, Lenoir G., Free PMC Article | 05/14/2022 |
| Structural insights into the activation of autoinhibited human lipid flippase ATP8B1 upon substrate binding. | Structural insights into the activation of autoinhibited human lipid flippase ATP8B1 upon substrate binding.
Cheng MT, Chen Y, Chen ZP, Liu X, Zhang Z, Chen Y, Hou WT, Zhou CZ., Free PMC Article | 05/14/2022 |
| Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing. | Whole-Genome Sequencing Reveals Large ATP8B1 Deletion/Duplications as Second Mutations Missed by Exome-Based Sequencing.
Yang Y, Zhang J, Li LT, Qiu YL, Gong JY, Zhang MH, Li CH, Wang JS. | 03/5/2022 |
| Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency. | Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency.
van Wessel DBE, Thompson RJ, Gonzales E, Jankowska I, Shneider BL, Sokal E, Grammatikopoulos T, Kadaristiana A, Jacquemin E, Spraul A, Lipiński P, Czubkowski P, Rock N, Shagrani M, Broering D, Algoufi T, Mazhar N, Nicastro E, Kelly D, Nebbia G, Arnell H, Fischler B, Hulscher JBF, Serranti D, Arikan C, Debray D, Lacaille F, Goncalves C, Hierro L, Muñoz Bartolo G, Mozer-Glassberg Y, Azaz A, Brecelj J, Dezsőfi A, Luigi Calvo P, Krebs-Schmitt D, Hartleif S, van der Woerd WL, Wang JS, Li LT, Durmaz Ö, Kerkar N, Hørby Jørgensen M, Fischer R, Jimenez-Rivera C, Alam S, Cananzi M, Laverdure N, Targa Ferreira C, Ordonez F, Wang H, Sency V, Mo Kim K, Chen HL, Carvalho E, Fabre A, Quintero Bernabeu J, Alonso EM, Sokol RJ, Suchy FJ, Loomes KM, McKiernan PJ, Rosenthal P, Turmelle Y, Rao GS, Horslen S, Kamath BM, Rogalidou M, Karnsakul WW, Hansen B, Verkade HJ, Natural Course and Prognosis of PFIC and Effect of Biliary Diversion Consortium., Free PMC Article | 01/8/2022 |
| ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes. | ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes.
Al-Hussaini A, Lone K, Bashir MS, Alrashidi S, Fagih M, Alanazi A, AlYaseen S, Almayouf A, Alruwaithi M, Asery A. | 11/27/2021 |
| Progressive familial intrahepatic cholestasis 1 involves ATP8B1 gene encoding for aminophospholipid flippase FIC1. [review] | Familial intrahepatic cholestasis: New and wide perspectives.
Vitale G, Gitto S, Vukotic R, Raimondi F, Andreone P. | 02/29/2020 |
| Mutations in the genes responsible for PFIC may be involved in both young and adults with cryptogenic cholestasis in a considerable number of cases, including in heterozygous status. | Cryptogenic cholestasis in young and adults: ATP8B1, ABCB11, ABCB4, and TJP2 gene variants analysis by high-throughput sequencing.
Vitale G, Gitto S, Raimondi F, Mattiaccio A, Mantovani V, Vukotic R, D'Errico A, Seri M, Russell RB, Andreone P. | 06/15/2019 |
| FIC1, BSEP, and MDR3 represent hepatobiliary transport proteins essential for bile formation. | Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
Dröge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, Brinkert F, Grabhorn E, Pfister ED, Wenning D, Fichtner A, Gotthardt DN, Weiss KH, McKiernan P, Puri RD, Verma IC, Kluge S, Gohlke H, Schmitt L, Kubitz R, Häussinger D, Keitel V. | 08/18/2018 |
| ATP8B1 deficiency caused incomplete polarization of human peripheral blood monocyte-derived macrophages into M2c, a subset alternatively activated macrophages. | Assessment of ATP8B1 Deficiency in Pediatric Patients With Cholestasis Using Peripheral Blood Monocyte-Derived Macrophages.
Hayashi H, Naoi S, Togawa T, Hirose Y, Kondou H, Hasegawa Y, Abukawa D, Sasaki M, Muroya K, Watanabe S, Nakano S, Minowa K, Inui A, Fukuda A, Kasahara M, Nagasaka H, Bessho K, Suzuki M, Kusuhara H., Free PMC Article | 08/18/2018 |
| the first characterisation at the protein level of six ABCB4 variants (D243A, K435T, G535D, I490T, R545C, and S978P) previously found in patients with inflammatory liver diseases or liver cancer, is reported. | ABCB4 missense mutations D243A, K435T, G535D, I490T, R545C, and S978P significantly impair the lipid floppase and likely predispose to secondary pathologies in the human population.
Andress EJ, Nicolaou M, McGeoghan F, Linton KJ., Free PMC Article | 09/2/2017 |
| Patients with a confirmed ABCB11 or tight junction protein 2 gene mutation (n = 7) had a minimally detectable THBA proportion (0.23-2.99% of total BAs). Three patients with an ATP8B1 mutation had an elevated THBA proportion (7.51-37.26%). | Prognostic roles of tetrahydroxy bile acids in infantile intrahepatic cholestasis.
Lee CS, Kimura A, Wu JF, Ni YH, Hsu HY, Chang MH, Nittono H, Chen HL., Free PMC Article | 09/2/2017 |
| The lipid flippases, ATP8B1 and ATP11A are novel elements of the innate immune response that are essential to attenuate the inflammatory response, possibly by mediating endotoxin-induced internalization of TLR4. | Phospholipid flippases attenuate LPS-induced TLR4 signaling by mediating endocytic retrieval of Toll-like receptor 4.
van der Mark VA, Ghiboub M, Marsman C, Zhao J, van Dijk R, Hiralall JK, Ho-Mok KS, Castricum Z, de Jonge WJ, Oude Elferink RP, Paulusma CC., Free PMC Article | 09/2/2017 |
| ATP8B1 is important for proper CFTR expression and function. | The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator.
van der Mark VA, de Jonge HR, Chang JC, Ho-Mok KS, Duijst S, Vidović D, Carlon MS, Oude Elferink RP, Paulusma CC. | 06/3/2017 |
| GGT levels in patients with ATP8B1 or ABCB11 deficiency varied with age. The peak GGT value was <70U/L in the 2nd~6th month of life, <60U/L in the 7th~12th month and <50U/L beyond one year | The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency.
Wang NL, Li LT, Wu BB, Gong JY, Abuduxikuer K, Li G, Wang JS., Free PMC Article | 08/27/2016 |
| As hypothyroidism can be another extrahepatic feature of ATP8B1 deficiency, thyroid function should be monitored in these patients. | Hypothyroidism Associated with ATP8B1 Deficiency.
Li L, Deheragoda M, Lu Y, Gong J, Wang J. | 03/12/2016 |
| the predominant P4 ATPases in pure pancreatic beta cells and human and rat pancreatic islets were ATP8B1, ATP8B2, and ATP9A. ATP8B1 and CDC50A were highly concentrated in ISG | Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION.
Ansari IU, Longacre MJ, Paulusma CC, Stoker SW, Kendrick MA, MacDonald MJ., Free PMC Article | 12/19/2015 |
| insufficient activity of Atp8b1/FIC1 increases susceptibility to bacterial pneumonia. | [P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions].
Korneenko TV, Pestov NB, Okkelman IA, Modyanov NN, Shakhparonov MI. | 07/25/2015 |
| We systematically characterized the molecular consequences of 14 ATP8B1 mutations at exon-intron boundaries associated with ATP8B1 deficiency and found that the majority resulted in total exon skipping | Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.
van der Woerd WL, Mulder J, Pagani F, Beuers U, Houwen RH, van de Graaf SF. | 06/6/2015 |
| Data indicate that the lipid flippase (ATP8B1)-transmembrane protein 30A (CDC50A) heterodimer is essential for the apical localization of sodium-dependent bile acid transporter (SLC10A2/ASBT) in Caco-2 cells. | 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, de Waart DR, Ho-Mok KS, Tabbers MM, Voogt HW, Oude Elferink RP, Knisely AS, Paulusma CC. | 05/2/2015 |