ATP8B1

Summary

Gene Symbol: ATP8B1
Description: ATPase phospholipid transporting 8B1
Alias: ATPIC, BRIC, FIC1, ICP1, PFIC, PFIC1, phospholipid-transporting ATPase IC, ATPase, aminophospholipid transporter, class I, type 8B, member 1, ATPase, class I, type 8B, member 1, E1-E2 ATPase, P4-ATPase flippase complex alpha subunit ATP8B1, familial intrahepatic cholestasis type 1
Species: human
Products:     ATP8B1

Top Publications

  1. Davit Spraul A, Fabre M, Branchereau S, Baussan C, Gonzales E, Stieger B, et al. 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. Hepatology. 2010;51:1645-55 pubmed publisher
    ..1 and 2 are characterized by normal serum gamma-glutamyl transferase (GGT) activity and are due to mutations in ATP8B1 (encoding FIC1) and ABCB11 (encoding bile salt export pump [BSEP]), respectively...
  2. Houwen R, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl L, et al. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet. 1994;8:380-6 pubmed
    ..A gene for benign recurrent intrahepatic cholestasis (BRIC) was mapped to chromosome 18 by searching for chromosome segments shared by only three distantly related patients...
  3. Bull L, van Eijk M, Pawlikowska L, DeYoung J, Juijn J, Liao M, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 1998;18:219-24 pubmed
    ..forms of inherited cholestasis, benign recurrent intrahepatic cholestasis (BRIC) and progressive familial intrahepatic cholestasis type 1 (PFIC1), were previously mapped to 18q21...
  4. Tygstrup N, Steig B, Juijn J, Bull L, Houwen R. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology. 1999;29:506-8 pubmed
    ..Signs of chronic liver disease were absent in all patients. The FIC1 gene was investigated for mutations in the surviving patients...
  5. Mullenbach R, Bennett A, Tetlow N, Patel N, Hamilton G, Cheng F, et al. ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy. Gut. 2005;54:829-34 pubmed
    ..transpeptidase (gamma-GT), and have been reported in two forms of cholestasis: progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis (BRIC)...
  6. Frankenberg T, Miloh T, Chen F, Ananthanarayanan M, Sun A, Balasubramaniyan N, et al. The membrane protein ATPase class I type 8B member 1 signals through protein kinase C zeta to activate the farnesoid X receptor. Hepatology. 2008;48:1896-905 pubmed publisher
    Prior loss-of-function analyses revealed that ATPase class I type 8B member 1 [familial intrahepatic cholestasis 1 (FIC1)] posttranslationally activated the farnesoid X receptor (FXR)...
  7. Stapelbroek J, Peters T, van Beurden D, Curfs J, Joosten A, Beynon A, et al. ATP8B1 is essential for maintaining normal hearing. Proc Natl Acad Sci U S A. 2009;106:9709-14 pubmed publisher
    b>ATP8B1 deficiency is caused by autosomal recessive mutations in ATP8B1, which encodes the putative phospatidylserine flippase ATP8B1 (formerly called FIC1)...
  8. Pawlikowska L, Strautnieks S, Jankowska I, Czubkowski P, Emerick K, Antoniou A, et al. Differences in presentation and progression between severe FIC1 and BSEP deficiencies. J Hepatol. 2010;53:170-8 pubmed publisher
    ..cholestasis (PFIC) with normal serum levels of gamma-glutamyltranspeptidase can result from mutations in ATP8B1 (encoding familial intrahepatic cholestasis 1 [FIC1]) or ABCB11 (encoding bile salt export pump [BSEP])...
  9. Takatsu H, Baba K, Shima T, Umino H, Kato U, Umeda M, et al. ATP9B, a P4-ATPase (a putative aminophospholipid translocase), localizes to the trans-Golgi network in a CDC50 protein-independent manner. J Biol Chem. 2011;286:38159-67 pubmed publisher
    ..These results indicate that ATP9B is able to exit the ER and localize to the TGN independently of CDC50 proteins and that this protein contains a Golgi localization signal in its N-terminal cytoplasmic region. ..

More Information

Publications109 found, 100 shown here

  1. Klomp L, Vargas J, van Mil S, Pawlikowska L, Strautnieks S, van Eijk M, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 2004;40:27-38 pubmed
    ..BRIC patients experience intermittent attacks of cholestasis that resolve spontaneously. Mutations in ATP8B1 (previously FIC1) may result in PFIC or BRIC...
  2. Demeilliers C, Jacquemin E, Barbu V, Mergey M, Paye F, Fouassier L, et al. Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation. Hepatology. 2006;43:1125-34 pubmed
    Recent reports in patients with PFIC1 have indicated that a gene defect in ATP8B1 could cause deregulations in bile salt transporters through decreased expression and/or activity of FXR...
  3. Paulusma C, Folmer D, Ho Mok K, de Waart D, Hilarius P, Verhoeven A, et al. ATP8B1 requires an accessory protein for endoplasmic reticulum exit and plasma membrane lipid flippase activity. Hepatology. 2008;47:268-78 pubmed
    Mutations in ATP8B1 cause progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1...
  4. Cai S, Gautam S, Nguyen T, Soroka C, Rahner C, Boyer J. ATP8B1 deficiency disrupts the bile canalicular membrane bilayer structure in hepatocytes, but FXR expression and activity are maintained. Gastroenterology. 2009;136:1060-9 pubmed publisher
    Progressive familial intrahepatic cholestasis 1 (PFIC1) results from mutations in ATP8B1, a putative aminophospholipid flippase. Conflicting hypotheses have been proposed for the pathogenesis of PFIC1...
  5. Verhulst P, van der Velden L, Oorschot V, van Faassen E, Klumperman J, Houwen R, et al. 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. Hepatology. 2010;51:2049-60 pubmed publisher
    Mutations in ATP8B1 cause familial intrahepatic cholestasis type 1, a spectrum of disorders characterized by intrahepatic cholestasis, reduced growth, deafness, and diarrhea...
  6. Ray N, Durairaj L, Chen B, McVerry B, Ryan A, Donahoe M, et al. Dynamic regulation of cardiolipin by the lipid pump Atp8b1 determines the severity of lung injury in experimental pneumonia. Nat Med. 2010;16:1120-1127 pubmed publisher
    ..and characterized the activity of a unique cardiolipin transporter, the P-type ATPase transmembrane lipid pump Atp8b1, a mutant version of which is associated with severe pneumonia in humans and mice...
  7. Chen F, Ananthanarayanan M, Emre S, Neimark E, Bull L, Knisely A, et al. Progressive familial intrahepatic cholestasis, type 1, is associated with decreased farnesoid X receptor activity. Gastroenterology. 2004;126:756-64 pubmed
    The mechanisms by which mutations in the familial intrahepatic cholestasis-1 gene cause Byler's disease (progressive familial intrahepatic cholestasis type 1) are unknown.
  8. van der Velden L, Wichers C, van Breevoort A, Coleman J, Molday R, Berger R, et al. Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases. J Biol Chem. 2010;285:40088-96 pubmed publisher
    ..Mutations in the human class 1 P(4)-ATPase gene ATP8B1 cause a severe syndrome characterized by impaired bile flow (intrahepatic cholestasis), often leading to end-stage ..
  9. Pradhan Sundd T, Zhou L, Vats R, Jiang A, Molina L, Singh S, et al. Dual catenin loss in murine liver causes tight junctional deregulation and progressive intrahepatic cholestasis. Hepatology. 2017;: pubmed publisher
    ..leading to early morbidity and mortality, a phenotype reminiscent of Progressive Familial Intrahepatic Cholestasis (PFIC)...
  10. El Karaksy H, Hamed D, Fouad H, Mogahed E, Helmy H, Hasanain F. Ocular findings in patients with cholestatic disorders of infancy: A single-centre experience. Arab J Gastroenterol. 2017;18:108-113 pubmed publisher
    ..Thirteen cases were probably having progressive familiar intrahepatic cholestasis (PFIC) type 1 or 2 considering their persistent cholestasis in the presence of normal gamma-glutamyl transpeptidase; 28 ..
  11. Kluth M, Stindt J, Dröge C, Linnemann D, Kubitz R, Schmitt L. A mutation within the extended X loop abolished substrate-induced ATPase activity of the human liver ATP-binding cassette (ABC) transporter MDR3. J Biol Chem. 2015;290:4896-907 pubmed publisher
    ..mutant, which was identified previously in a patient with progressive familial intrahepatic cholestasis type 3 (PFIC-3)...
  12. Jetter A, Kullak Ublick G. Drugs and hepatic transporters: A review. Pharmacol Res. 2019;: pubmed publisher
    ..This task is accomplished by the bile salt export pump BSEP. Two further transporters, MDR3 and ATP8B1 are involved in the proper constitution of bile...
  13. Bolier R, Tolenaars D, Kremer A, Saris J, Pares A, Verheij J, et al. Enteroendocrine cells are a potential source of serum autotaxin in men. Biochim Biophys Acta. 2016;1862:696-704 pubmed publisher
    ..of ATX activity was assessed in mouse models of extrahepatic (bile duct ligation) and intrahepatic cholestasis (Atp8b1(G308V/G308V), 0.1% cholate-supplemented diet)...
  14. Verkade H, Bezerra J, Davenport M, Schreiber R, Mieli Vergani G, Hulscher J, et al. Biliary atresia and other cholestatic childhood diseases: Advances and future challenges. J Hepatol. 2016;65:631-42 pubmed publisher
    ..such as the genetic conditions, Alagille syndrome (ALGS) and Progressive Familial Intrahepatic Cholestasis (PFIC), are less common...
  15. Thompson R, Strautnieks S. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis. 2001;21:545-50 pubmed
    ..this protein (ABCB11) are responsible for a subgroup of infants and children with progressive familial cholestasis (PFIC-2), a cholestatic disorder causing extreme pruritus, growth failure, and progression to cirrhosis in the first ..
  16. Arrese M. Cholestasis during pregnancy: rare hepatic diseases unmasked by pregnancy. Ann Hepatol. 2006;5:216-8 pubmed
    ..Thus, mutations in the hepatic phospholipid transporter(MDR3, ABCB4), in the aminophospholipid transporter ATP8B1 and in the bile salt export pump (BSEP, ABCB11) have been found in patients diagnosed as ICP...
  17. Brinkert F, Pukite I, Krebs Schmitt D, Briem Richter A, Stindt J, Haussinger D, et al. Allogeneic haematopoietic stem cell transplantation eliminates alloreactive inhibitory antibodies after liver transplantation for bile salt export pump deficiency. J Hepatol. 2018;69:961-965 pubmed publisher
    ..After haematopoietic stem cell transplantation, anti-BSEP antibodies were cleared from the patient's serum and later from the canalicular space of the liver graft. ..
  18. Abdelrhim H, Khan S, Heaton P, Peeka R. Balancing Medical and Non-Accidental Causes of Multiple Fractures in a Child with Progressive Familial Intrahepatic Cholestasis. Am J Case Rep. 2017;18:1190-1193 pubmed
    ..CASE REPORT Here, we present the case of a 22-month-old girl with progressive familial intrahepatic cholestasis (PFIC) type 2 who presented with "red flag" fractures indicative of child abuse...
  19. Kubitz R, Dröge C, Stindt J, Weissenberger K, Haussinger D. The bile salt export pump (BSEP) in health and disease. Clin Res Hepatol Gastroenterol. 2012;36:536-53 pubmed publisher
    ..with cholestatic liver diseases of varying severity including progressive familial intrahepatic cholestasis type 2 (PFIC-2), benign recurrent intrahepatic cholestasis type 2 (BRIC-2) and genetic polymorphisms are linked to intrahepatic ..
  20. Cariello M, Piccinin E, Garcia Irigoyen O, Sabba C, Moschetta A. Nuclear receptor FXR, bile acids and liver damage: Introducing the progressive familial intrahepatic cholestasis with FXR mutations. Biochim Biophys Acta Mol Basis Dis. 2018;1864:1308-1318 pubmed publisher
    ..However, the recent identification of a new type of genetic progressive familial intrahepatic cholestasis (PFIC) linked to FXR mutations has strengthen also the bona fide beneficial effects of target therapies that by-pass FXR ..
  21. Treepongkaruna S, Gaensan A, Pienvichit P, Luksan O, Knisely A, Sornmayura P, et al. Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis. World J Gastroenterol. 2009;15:4339-42 pubmed
    Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11, which encodes bile salt export pump (BSEP)...
  22. Chen H, Li H, Wu J, Wu S, Chen H, Yang Y, et al. Panel-Based Next-Generation Sequencing for the Diagnosis of Cholestatic Genetic Liver Diseases: Clinical Utility and Challenges. J Pediatr. 2019;205:153-159.e6 pubmed publisher
    ..5%. Disease-causing mutations, including ATP8B1, ABCB11, ABCB4, ABCC2, TJP2, NR1H4 (FXR), JAG1, AKR1D1, CYP7B1, PKHD1, ATP7B, and SLC25A13, were identified...
  23. de Vree J, Ottenhoff R, Bosma P, Smith A, Aten J, Oude Elferink R. Correction of liver disease by hepatocyte transplantation in a mouse model of progressive familial intrahepatic cholestasis. Gastroenterology. 2000;119:1720-30 pubmed
    Patients with progressive familial intrahepatic cholestasis (PFIC) type 3 have a mutation in the MDR3 gene, encoding the hepatocanalicular phospholipid translocator...
  24. Jansen P, Strautnieks S, Jacquemin E, Hadchouel M, Sokal E, Hooiveld G, et al. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology. 1999;117:1370-9 pubmed
    ..Patients with normal gamma-glutamyltransferase activity have mutations of the FIC1 locus on chromosome 18q21 or mutations of the BSEP gene on chromosome 2q24...
  25. Strautnieks S, Bull L, Knisely A, Kocoshis S, Dahl N, Arnell H, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 1998;20:233-8 pubmed
    The progressive familial intrahepatic cholestases (PFIC) are a group of inherited disorders with severe cholestatic liver disease from early infancy...
  26. Jacquemin E. Progressive familial intrahepatic cholestasis. Genetic basis and treatment. Clin Liver Dis. 2000;4:753-63 pubmed
    ..of bile formation and genetic studies of children with chronic cholestasis uncovered the molecular basis of PFIC. Specific defects in the FIC1, BSEP, and MDR3 genes are responsible for distinct PFIC phenotypes...
  27. Wooton Kee C, Jain A, Wagner M, Grusak M, Finegold M, Lutsenko S, et al. Elevated copper impairs hepatic nuclear receptor function in Wilson's disease. J Clin Invest. 2015;125:3449-60 pubmed publisher
    ..Excessive hepatic copper has been described in progressive familial cholestasis (PFIC), and we found that similar to individuals with WD, patients with PFIC2 or PFIC3 who have clinically elevated ..
  28. Kang J, Liu I, Wang M, Srivatsan E. A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. Hum Genet. 2016;135:675-84 pubmed publisher
    ..the domains associated with protein homodimerization and substrate interaction such as Broad-Complex, Tramtrack and Bric a brac (BTB), BTB associated C-terminal KELCH (BACK), and KELCH repeats...
  29. Harris M, Le Couteur D, Arias I. Progressive familial intrahepatic cholestasis: genetic disorders of biliary transporters. J Gastroenterol Hepatol. 2005;20:807-17 pubmed
    ..Progressive familial intrahepatic cholestasis type 1 involves a gene also linked to benign recurrent intrahepatic cholestasis...
  30. Cebecauerova D, Strautnieks S, Byrne J, Jirsa M, Thompson R. ATP8B1 gene expression is driven by a housekeeping-like promoter independent of bile acids and farnesoid X receptor. PLoS ONE. 2012;7:e51650 pubmed publisher
    Mutations in ATP8B1 gene were identified as a cause of low ?-glutamyltranspeptidase cholestasis with variable phenotype, ranging from Progressive Familial Intrahepatic Cholestasis to Benign Recurrent Intrahepatic Cholestasis...
  31. Kubitz R, Dröge C, Kluge S, Stross C, Walter N, Keitel V, et al. Autoimmune BSEP disease: disease recurrence after liver transplantation for progressive familial intrahepatic cholestasis. Clin Rev Allergy Immunol. 2015;48:273-84 pubmed publisher
    ..of PFIC are defined by the involved genes: PFIC-1, PFIC-2, and PFIC-3 are due to mutations of P-type ATPase ATP8B1 (familial intrahepatic cholestasis 1, FIC1), the ATP binding cassette transporter ABCB11 (bile salt export pump, ..
  32. Oliveira H, Pereira C, Santos Silva E, Pinto Basto J, Pessegueiro Miranda H. Elevation of gamma-glutamyl transferase in adult: Should we think about progressive familiar intrahepatic cholestasis?. Dig Liver Dis. 2016;48:203-5 pubmed publisher
    There are three types of progressive familial intrahepatic cholestasis (PFIC). Type 3 is characterized by elevated gamma-glutamyl transferase (γ-GT) and it can be diagnosed in adolescence/adulthood...
  33. Wang N, Li L, Wu B, Gong J, Abuduxikuer K, Li G, et al. The Features of GGT in Patients with ATP8B1 or ABCB11 Deficiency Improve the Diagnostic Efficiency. PLoS ONE. 2016;11:e0153114 pubmed publisher
    Genetic defects in ATP8B1 or ABCB11 account for the majority of cholestasis with low GGT. But the ranges for GGT in patients with ATP8B1 or ABCB11 deficiency are unclear...
  34. Koh S, Takada T, Kukuu I, Suzuki H. FIC1-mediated stimulation of FXR activity is decreased with PFIC1 mutations in HepG2 cells. J Gastroenterol. 2009;44:592-600 pubmed publisher
    Progressive familial intrahepatic cholestasis type 1 (PFIC1) is a specific form of genetic cholestasis caused by functional defects in FIC1/ATP8B1...
  35. Stone A, Chau C, Eaton C, Foran E, Kapur M, Prevatt E, et al. Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis. J Biol Chem. 2012;287:41139-51 pubmed publisher
    Mutations in the P4-ATPase ATP8B1 cause the inherited liver disease progressive familial intrahepatic cholestasis...
  36. van der Woerd W, Kokke F, van der Zee D, Houwen R. Total biliary diversion as a treatment option for patients with progressive familial intrahepatic cholestasis and Alagille syndrome. J Pediatr Surg. 2015;50:1846-9 pubmed publisher
    Progressive familial intrahepatic cholestasis (PFIC) with low gamma-glutamyl transpeptidase (GGT) and Alagille syndrome are associated with persistent cholestasis and severe pruritus...
  37. Nogier C, Hanlon P, Wiedenmayer K, Maire N. Can a Compact Pre-Filled Auto-Disable Injection System (cPAD) Save Costs for DTP-HepB-Hib Vaccine as Compared with Single-Dose (SDV) and Multi-Dose Vials (MDV)? Evidence from Cambodia, Ghana, and Peru. Drugs Real World Outcomes. 2015;2:43-52 pubmed
    ..The outcome was the change in cost per pentavalent fully immunized child (PFIC) for a switch to cPAD...
  38. Chen H, Chang P, Hsu H, Ni Y, Hsu H, Lee J, et al. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels. J Pediatr. 2002;140:119-24 pubmed
    To elucidate the frequency of FIC1 (ATP8B1) and BSEP (ABCB11) mutations in Taiwanese children with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase (GGT) levels, we assessed 13 unrelated patients with infantile onset ..
  39. Kagawa T, Watanabe N, Mochizuki K, Numari A, Ikeno Y, Itoh J, et al. Phenotypic differences in PFIC2 and BRIC2 correlate with protein stability of mutant Bsep and impaired taurocholate secretion in MDCK II cells. Am J Physiol Gastrointest Liver Physiol. 2008;294:G58-67 pubmed
    Progressive familial cholestasis (PFIC) 2 and benign recurrent intrahepatic cholestasis (BRIC) 2 are caused by mutations in the bile salt export pump (BSEP, ABCB11) gene; however, their prognosis differs...
  40. Stapelbroek J, van Erpecum K, Klomp L, Houwen R. Liver disease associated with canalicular transport defects: current and future therapies. J Hepatol. 2010;52:258-71 pubmed publisher
    ..This is illustrated by inherited liver diseases due to mutations in ATP8B1, ABCB11, ABCB4, ABCC2 and ABCG5/8, all encoding hepatocanalicular transporters...
  41. Morotti R, Suchy F, Magid M. Progressive familial intrahepatic cholestasis (PFIC) type 1, 2, and 3: a review of the liver pathology findings. Semin Liver Dis. 2011;31:3-10 pubmed publisher
    ..The currently preferred nomenclature for the three PFIC disorders that have been characterized to date is FIC1 deficiency, BSEP deficiency, and MDR3 deficiency, relating to mutations in the specific genes involved in bile acid ..
  42. Chen F, Ghosh A, Shneider B. Phospholipase D2 mediates signaling by ATPase class I type 8B membrane 1. J Lipid Res. 2013;54:379-85 pubmed publisher
    Functional defects in ATPase class I type 8B membrane 1 (ATP8B1 or familial intrahepatic cholestasis 1, FIC1) lead to cholestasis by mechanism(s) that are not fully understood...
  43. Sekine J, Nakatani E, Ohira K, Hideshima K, Kanno T, Nariai Y, et al. Nucleus Accumbens-Associated Protein 1 Expression Has Potential as a Marker for Distinguishing Oral Epithelial Dysplasia and Squamous Cell Carcinoma. PLoS ONE. 2015;10:e0131752 pubmed publisher
    ..Nucleus accumbens-associated protein 1 (NAC1) is a member of the Pox virus and Zinc finger/Bric-a-brac Tramtrack Broad complex family of proteins, and is overexpressed in OSCC...
  44. Minamitani T, Yasui T, Ma Y, Zhou H, Okuzaki D, Tsai C, et al. Evasion of affinity-based selection in germinal centers by Epstein-Barr virus LMP2A. Proc Natl Acad Sci U S A. 2015;112:11612-7 pubmed publisher
    ..Epigenetic profiling of LMP2A B cells found increased H3K27ac and H3K4me1 signals at the zinc finger and bric-a-brac, tramtrack domain-containing protein 20 locus...
  45. Li Q, Barish S, Okuwa S, VOLKAN P. Examination of Endogenous Rotund Expression and Function in Developing Drosophila Olfactory System Using CRISPR-Cas9-Mediated Protein Tagging. G3 (Bethesda). 2015;5:2809-16 pubmed publisher
    ..Finally, using chromatin immunoprecipitation, we showed a direct binding of Rotund to a previously identified regulatory element upstream of the bric-a-brac gene locus in the developing antennal disc.
  46. Miyagawa Hayashino A, Egawa H, Yorifuji T, Hasegawa M, Haga H, Tsuruyama T, et al. Allograft steatohepatitis in progressive familial intrahepatic cholestasis type 1 after living donor liver transplantation. Liver Transpl. 2009;15:610-8 pubmed publisher
    We studied histological features and long-term outcomes in patients with progressive familial intrahepatic cholestasis type 1 (PFIC1) after liver transplantation (LT)...
  47. Folmer D, van der Mark V, Ho Mok K, Oude Elferink R, Paulusma C. Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1. Hepatology. 2009;50:1597-605 pubmed publisher
    Mutations in ATP8B1 cause progressive familial intrahepatic cholestasis type 1 (PFIC1) and benign recurrent intrahepatic cholestasis type 1 (BRIC1), forming a spectrum of cholestatic disease...
  48. Ansari I, Longacre M, Paulusma C, Stoker S, Kendrick M, MacDonald M. Characterization of P4 ATPase Phospholipid Translocases (Flippases) in Human and Rat Pancreatic Beta Cells: THEIR GENE SILENCING INHIBITS INSULIN SECRETION. J Biol Chem. 2015;290:23110-23 pubmed publisher
    ..We found that 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. ATP9A was concentrated in plasma membrane...
  49. Bruurs L, Donker L, Zwakenberg S, Zwartkruis F, Begthel H, Knisely A, et al. ATP8B1-mediated spatial organization of Cdc42 signaling maintains singularity during enterocyte polarization. J Cell Biol. 2015;210:1055-63 pubmed publisher
    ..Here we show that the disease-associated flippase ATPase class I type 8b member 1 (ATP8B1) enables Cdc42 clustering during enterocyte polarization...
  50. Araus V, Vidal E, Puelma T, Alamos S, Mieulet D, Guiderdoni E, et al. Members of BTB Gene Family of Scaffold Proteins Suppress Nitrate Uptake and Nitrogen Use Efficiency. Plant Physiol. 2016;171:1523-32 pubmed publisher
    ..Second, we identified BT2, a member of the Bric-a-Brac/Tramtrack/Broad gene family, as the most central and connected gene in the NUE network...
  51. Wendum D. [Liver disease associated with hereditary defects of hepatobiliary transporters]. Ann Pathol. 2010;30:426-31 pubmed publisher
    ..Then, some liver diseases related to mutations of biliary tranporters (FIC1/ATP8B1, BSEP/ABCB11, MDR3 /ABCB4 and MRP2/ABCC2) will be described with a focus on the pathological aspects...
  52. Bartoletti M, Rubin T, Chalvet F, Netter S, Dos Santos N, Poisot E, et al. Genetic basis for developmental homeostasis of germline stem cell niche number: a network of Tramtrack-Group nuclear BTB factors. PLoS ONE. 2012;7:e49958 pubmed publisher
    ..Here we show that pipsqueak, Trithorax-like, batman and the bric-à-brac (bab) locus, all encoding nuclear BTB/POZ factors of the Tramtrack Group, are involved in limiting the ..
  53. Endler L, Betancourt A, Nolte V, Schlötterer C. Reconciling Differences in Pool-GWAS Between Populations: A Case Study of Female Abdominal Pigmentation in Drosophila melanogaster. Genetics. 2016;202:843-55 pubmed publisher
    ..We find that, in both the European and the South African flies, variants near the tan and bric-à-brac 1 (bab1) genes are most strongly associated with pigmentation...
  54. Dröge C, Schaal H, Engelmann G, Wenning D, Haussinger D, Kubitz R. Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations. Sci Rep. 2016;6:24827 pubmed publisher
    ..Over 150 BSEP mutations are associated with progressive familial intrahepatic cholestasis type 2 (PFIC-2), with few characterised specifically...
  55. von Laffert M, Hänel M, Dietel M, Anagnostopoulos I, Johrens K. Increase of T and B cells and altered BACH2 expression patterns in bone marrow trephines of imatinib-treated patients with chronic myelogenous leukaemia. Oncol Lett. 2016;12:2421-2428 pubmed
    ..An upregulation of the transcription factor Broad-complex-Tramtrack-Bric-a-Brac and Cap'n'collar 1 bZip transcription factor 2 (BACH2), which is involved in the development and ..
  56. Dröge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, et al. Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants. J Hepatol. 2017;67:1253-1264 pubmed publisher
    ..ABCB11), multidrug resistance protein 3 (MDR3, ABCB4) and the ATPase familial intrahepatic cholestasis 1 (FIC1, ATP8B1) mediate bile formation...
  57. Kubitz R, Keitel V, Scheuring S, Köhrer K, Haussinger D. Benign recurrent intrahepatic cholestasis associated with mutations of the bile salt export pump. J Clin Gastroenterol. 2006;40:171-5 pubmed
    ..laboratory findings and genetic analysis, the diagnosis of benign recurrent intrahepatic cholestasis type 2 (BRIC-2) was established...
  58. Vitale G, Pirillo M, Mantovani V, Marasco E, Aquilano A, Gamal N, et al.  Bile salt export pump deficiency disease: two novel, late onset, ABCB11 mutations identified by next generation sequencing. Ann Hepatol. 2016;15:795-800 pubmed publisher
    ..Benign intrahepatic cholestasis (BRIC) identifies a group of diseases involving the same genes and characterized by intermittent attacks of cholestasis ..
  59. Halleck M, Lawler JF J, Blackshaw S, Gao L, Nagarajan P, Hacker C, et al. Differential expression of putative transbilayer amphipath transporters. Physiol Genomics. 1999;1:139-50 pubmed
    ..These results suggest that the genes are expressed in a tissue-specific manner, are not simply redundant, and may represent isoforms that transport a variety of different amphipaths...
  60. Paulusma C, Oude Elferink R. The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease. Biochim Biophys Acta. 2005;1741:11-24 pubmed
    ..Up to now, one inherited disorder, Byler disease or progressive familial intrahepatic cholestasis type 1 (PFIC1), has been directly linked to mutations in a type 4 P-type ATPase gene...
  61. Chen H, Liu Y, Su Y, Wang N, Wu S, Ni Y, et al. Diagnosis of BSEP/ABCB11 mutations in Asian patients with cholestasis using denaturing high performance liquid chromatography. J Pediatr. 2008;153:825-32 pubmed publisher
    To determine if specific mutations were present in Asian patients with progressive familial intrahepatic cholestasis (PFIC) type 2 caused by defects in bile salt export pump (BSEP), encoded by ABCB11.
  62. Dixon P, Wadsworth C, Chambers J, Donnelly J, Cooley S, Buckley R, et al. A comprehensive analysis of common genetic variation around six candidate loci for intrahepatic cholestasis of pregnancy. Am J Gastroenterol. 2014;109:76-84 pubmed publisher
    ..of common variation around candidate loci with biological plausibility for a role in ICP (ABCB4, ABCB11, ABCC2, ATP8B1, NR1H4, and FGF19)...
  63. Jansen P, Sturm E. Genetic cholestasis, causes and consequences for hepatobiliary transport. Liver Int. 2003;23:315-22 pubmed
    ..Progressive familial intrahepatic cholestasis (PFIC) results from mutations in various genes encoding hepatobiliary transport proteins...
  64. Shimizu H, Migita O, Kosaki R, Kasahara M, Fukuda A, Sakamoto S, et al. Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings. Am J Transplant. 2011;11:394-8 pubmed publisher
    ..This report describes two siblings with PFIC-2 who underwent living-related liver transplantation from their genetically proven heterozygous parents...
  65. Jacquemin E. Progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2012;36 Suppl 1:S26-35 pubmed publisher
    ..Both PFIC1 and PFIC2 are caused by impaired bile salt secretion due to defects in ATP8B1 encoding the FIC1 protein and in ABCB11 encoding bile salt export pump (BSEP) protein, respectively...
  66. Strubbe B, Geerts A, Van Vlierberghe H, Colle I. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis: a review. Acta Gastroenterol Belg. 2012;75:405-10 pubmed
    Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are two rare autosomal recessive disorders, characterized by cholestasis...
  67. Maekawa S, Imamachi N, Irie T, Tani H, Matsumoto K, Mizutani R, et al. Analysis of RNA decay factor mediated RNA stability contributions on RNA abundance. BMC Genomics. 2015;16:154 pubmed publisher
    ..we used stability data of whole transcriptome measured by 5'-bromouridine immunoprecipitation chase sequencing (BRIC-seq), which enabled us to determine the half-lives of whole transcripts including lincRNAs, and we integrated BRIC-..
  68. Zupańska A, Schultz E, Yao J, Sng N, Zhou M, Callaham J, et al. ARG1 Functions in the Physiological Adaptation of Undifferentiated Plant Cells to Spaceflight. Astrobiology. 2017;17:1077-1111 pubmed publisher
    ..The cell lines were launched on SpaceX CRS-2 as part of the Cellular Expression Logic (CEL) experiment of the BRIC-17 spaceflight mission...
  69. Yamada T, Imamachi N, Onoguchi Mizutani R, Imamura K, Suzuki Y, Akimitsu N. 5'-Bromouridine IP Chase (BRIC)-Seq to Determine RNA Half-Lives. Methods Mol Biol. 2018;1720:1-13 pubmed publisher
    ..endogenous RNAs in mammalian cells with 5'-bromouridine (BrU), followed by measuring the chronological decrease of BrU-labeled RNAs using deep sequencing (BRIC-seq). Here, we describe a detailed protocol and technical tips for BRIC-seq.
  70. van der Velden L, Stapelbroek J, Krieger E, van den Berghe P, Berger R, Verhulst P, et al. Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate. Hepatology. 2010;51:286-96 pubmed publisher
    ..It presents either as a progressive (progressive familial intrahepatic cholestasis type 1 [PFIC1]) or intermittent (benign recurrent intrahepatic cholestasis type 1 [BRIC1]) disease...
  71. Jacquemin E, Malan V, Rio M, Davit Spraul A, Cohen J, Landrieu P, et al. Heterozygous FIC1 deficiency: a new genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr. 2010;50:447-9 pubmed publisher
  72. Shapiro R, Anikster Y, Yardeni T, Korem S, Hartman K, Shamir R, et al. DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients. J Hum Genet. 2010;55:308-13 pubmed publisher
    ..The genotype-phenotype correlation is not always clear. Mutations in the ATP8B1, BSEP and MDR3 genes have been associated with PFIC1, PFIC2 and PFIC3, respectively...
  73. van der Mark V, de Jonge H, Chang J, Ho Mok K, Duijst S, Vidović D, et al. The phospholipid flippase ATP8B1 mediates apical localization of the cystic fibrosis transmembrane regulator. Biochim Biophys Acta. 2016;1863:2280-8 pubmed publisher
    Progressive familial intrahepatic cholestasis type 1 (PFIC1) is caused by mutations in the gene encoding the phospholipid flippase ATP8B1...
  74. van der Mark V, Ghiboub M, Marsman C, Zhao J, van Dijk R, Hiralall J, et al. Phospholipid flippases attenuate LPS-induced TLR4 signaling by mediating endocytic retrieval of Toll-like receptor 4. Cell Mol Life Sci. 2017;74:715-730 pubmed publisher
    ..The phenotype of CDC50A-depleted cells was also induced by separate knockdown of two P4-ATPases, namely ATP8B1 and ATP11A...
  75. Andress E, Nicolaou M, McGeoghan F, Linton K. 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. Cell Mol Life Sci. 2017;74:2513-2524 pubmed publisher
  76. Dong J, Ni W, Yu R, Deng X, Chen H, Wei N. Light-Dependent Degradation of PIF3 by SCFEBF1/2 Promotes a Photomorphogenic Response in Arabidopsis. Curr Biol. 2017;27:2420-2430.e6 pubmed publisher
    ..We also found that previously identified LIGHT-RESPONSE BRIC-A-BRACK/TRAMTRACK/BROAD (LRB) E3 ubiquitin ligases target phytochrome B (phyB) and PIF3 primarily under high-light ..
  77. Cheng M, Lo S, Hsiao A, Hong Y, Yu S, Ho T. Ectopic Expression of WINDING 1 Leads to Asymmetrical Distribution of Auxin and a Spiral Phenotype in Rice. Plant Cell Physiol. 2017;58:1494-1506 pubmed publisher
    ..Rice WIN1 belongs to a specific class of proteins in cereal plants containing a Bric-a-Brac/Tramtrack/Broad (BTB) complex, a non-phototropic hypocotyl 3 (NPH3) domain and a coiled-coil motif...
  78. Narchi H, Alhefeiti S, Althabahi F, Hertecant J, Knisely A, Souid A. Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V). Saudi J Gastroenterol. 2017;23:303-305 pubmed publisher
    ..Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the ..
  79. Sprenger H, Kienesberger S, Pertschy B, Pöltl L, Konrad B, Bhutada P, et al. Fic Proteins of Campylobacter fetus subsp. venerealis Form a Network of Functional Toxin-Antitoxin Systems. Front Microbiol. 2017;8:1965 pubmed publisher
    ..Key active site residues involved in adenylylation by Fic proteins are conserved in Fic1, Fic3 and Fic4, but degenerated in Fic2...
  80. Basu P, Kruse C, Luesse D, Wyatt S. Growth in spaceflight hardware results in alterations to the transcriptome and proteome. Life Sci Space Res (Amst). 2017;15:88-96 pubmed publisher
    The Biological Research in Canisters (BRIC) hardware has been used to house many biology experiments on both the Space Transport System (STS, commonly known as the space shuttle) and the International Space Station (ISS)...
  81. Klomp L, Bull L, Knisely A, van Der Doelen M, Juijn J, Berger R, et al. A missense mutation in FIC1 is associated with greenland familial cholestasis. Hepatology. 2000;32:1337-41 pubmed
    ..cholestasis is caused by a mutation in FIC1, the gene defective in patients with progressive familial intrahepatic cholestasis type 1 and many cases of benign recurrent intrahepatic cholestasis...
  82. Schneider G, Paus T, Kullak Ublick G, Meier P, Wienker T, Lang T, et al. Linkage between a new splicing site mutation in the MDR3 alias ABCB4 gene and intrahepatic cholestasis of pregnancy. Hepatology. 2007;45:150-8 pubmed
    ..The familial cholestasis type 1 (FIC1, ATP8B1) gene, bile salt export pump (BSEP, ABCB11) and MDR3 gene were analyzed in 55 relatives...
  83. Muehlenberg K, Wiedmann K, Keppeler H, Sauerbruch T, Lammert F. [Recurrent intrahepatic cholestasis of pregnancy and chain-like choledocholithiasis in a female patient with stop codon in the ABDC4-gene of the hepatobiliary phospholipid transporter]. Z Gastroenterol. 2008;46:48-53 pubmed publisher
    ..cholestasis with portal inflammation and fibrosis, resembling progressive familial intrahepatic cholestasis (PFIC). Molecular genetic studies identified the heterozygous mutation c...
  84. Martínez Fernández P, Hierro L, Jara P, Alvarez L. Knockdown of ATP8B1 expression leads to specific downregulation of the bile acid sensor FXR in HepG2 cells: effect of the FXR agonist GW4064. Am J Physiol Gastrointest Liver Physiol. 2009;296:G1119-29 pubmed publisher
    ..of FXR contributes to the pathogenesis of an inherited disorder of bile secretion caused by mutations in ATP8B1. We have investigated the relationship between ATP8B1 knockdown and FXR downregulation in the human hepatoblastoma ..
  85. Liu L, Wang X, Wang Z, Zhu Q, Wang J. Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT. J Pediatr Gastroenterol Nutr. 2010;50:179-83 pubmed publisher
    The aim of the study was to elucidate the role and characteristics of ATP8B1 gene mutations in mainland Chinese children with progressive intrahepatic cholestasis and low gamma-glutamyltransferase (GGT).
  86. Copeland E, Renault N, Renault M, Dyack S, Bulman D, Bedard K, et al. Novel splice-site mutation in ATP8B1 results in atypical progressive familial intrahepatic cholestasis type 1. J Gastroenterol Hepatol. 2013;28:560-4 pubmed publisher
    ..This result was unexpected because ATP8B1 mutations are associated with progressive familial intrahepatic cholestasis type 1 (PFIC1)...
  87. Stindt J, Ellinger P, Weissenberger K, Dröge C, Herebian D, Mayatepek E, et al. A novel mutation within a transmembrane helix of the bile salt export pump (BSEP, ABCB11) with delayed development of cirrhosis. Liver Int. 2013;33:1527-35 pubmed publisher
    ..Clinical phenotypes associated with BSEP mutations are commonly categorized as benign recurrent intrahepatic cholestasis (BRIC-2) or progressive familial intrahepatic cholestasis (PFIC-2).
  88. Johnson C, Subramanian A, Pattathil S, Correll M, Kiss J. Comparative transcriptomics indicate changes in cell wall organization and stress response in seedlings during spaceflight. Am J Bot. 2017;: pubmed publisher
    ..We analyzed the transcriptome of Arabidopsis thaliana using the Biological Research in Canisters (BRIC) hardware during Space Shuttle mission STS-131...
  89. Tannoury M, Attieh Z. The Influence of Emerging Markets on the Pharmaceutical Industry. Curr Ther Res Clin Exp. 2017;86:19-22 pubmed publisher
    ..management at Goldman Sachs, identified leading economies of emerging markets: Brazil, Russia, India, and China (BRIC) and later Brazil, Russia, India, China, and South Africa (BRICS) and then Mexico, Indonesia, South Korea, and ..
  90. Elferink R, Groen A. Genetic defects in hepatobiliary transport. Biochim Biophys Acta. 2002;1586:129-45 pubmed
    ..active transporters are involved in canalicular secretion of biliary components (MDR1, MDR3, BSEP, MRP2, BCRP and FIC1). Four of these transporter genes are associated with inherited diseases...
  91. Goto K, Sugiyama K, Sugiura T, Ando T, Mizutani F, Terabe K, et al. Bile salt export pump gene mutations in two Japanese patients with progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr. 2003;36:647-50 pubmed
    ..progressive familial intrahepatic cholestasis has been classified into at least three types by genetic analysis: PFIC1, PFIC2, and MDR3. Liver transplantation is effective for treating patients with this intractable syndrome...
  92. Harris M, Arias I. FIC1, a P-type ATPase linked to cholestatic liver disease, has homologues (ATP8B2 and ATP8B3) expressed throughout the body. Biochim Biophys Acta. 2003;1633:127-31 pubmed
    ..We identified two familial intrahepatic cholestasis type 1 (FIC1) homologues, ATP8B2 and ATP8B3, with 53% and 45% amino acid identity, respectively...