Leo Klomp

Leo Klomp

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Leo Klomp

Leo Klomp

Publications by authors named "Leo Klomp"

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Monitoring bile acid transport in single living cells using a genetically encoded Förster resonance energy transfer sensor.

Hepatology 2013 Feb 8;57(2):740-52. Epub 2013 Jan 8.

Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://doi.wiley.com/10.1002/hep.26012
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http://dx.doi.org/10.1002/hep.26012DOI Listing
February 2013

D-serine influences synaptogenesis in a p19 cell model.

JIMD Rep 2012 1;6:47-53. Epub 2012 Feb 1.

Department of Metabolic and Endocrine Diseases/Department of Biomedical Genetics, University Medical Center Utrecht, 85090, 3508 AB, Utrecht, The Netherlands,

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http://dx.doi.org/10.1007/8904_2011_116DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3565666PMC
February 2013

Increased concentrations of both NMDA receptor co-agonists D-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia.

Amino Acids 2012 Jul 23;43(1):355-63. Epub 2011 Sep 23.

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Postbox 85090, 3508 AB, Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00726-011-1086-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374112PMC
July 2012

Liver-specific Commd1 knockout mice are susceptible to hepatic copper accumulation.

PLoS One 2011 22;6(12):e29183. Epub 2011 Dec 22.

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, and Netherlands Metabolomics Center, Utrecht, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0029183PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3245254PMC
May 2012

The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.

Cell Mol Life Sci 2012 Jan 11;69(1):149-63. Epub 2011 Jun 11.

Department of Metabolic and Endocrine Diseases, Netherlands Metabolomics Center, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00018-011-0743-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249196PMC
January 2012

Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.

J Biol Chem 2012 Jan 30;287(4):2485-99. Epub 2011 Nov 30.

Strategic Research Centre for Molecular and Medical Research, School of Life and Environmental Sciences, Deakin University, Burwood, Victoria 3125, Australia.

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http://dx.doi.org/10.1074/jbc.M111.302216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3268409PMC
January 2012

Clinical utility gene card for: Menkes disease.

Eur J Hum Genet 2011 Oct 13;19(10). Epub 2011 Apr 13.

Center for Applied Human Molecular Genetics, Kennedy Center, Glostrup, Denmark.

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http://dx.doi.org/10.1038/ejhg.2011.56DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3190265PMC
October 2011

A sensitive and simple ultra-high-performance-liquid chromatography-tandem mass spectrometry based method for the quantification of D-amino acids in body fluids.

J Chromatogr A 2011 Oct 3;1218(40):7130-6. Epub 2011 Aug 3.

University Medical Center Utrecht/Wilhelmina Children's Hospital, Department of Metabolic and Endocrine Diseases, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.chroma.2011.07.087DOI Listing
October 2011

Activation of bile salt nuclear receptor FXR is repressed by pro-inflammatory cytokines activating NF-κB signaling in the intestine.

Biochim Biophys Acta 2011 Aug 22;1812(8):851-8. Epub 2011 Apr 22.

Department of Gastroenterology and Hepatology, University Medical Centre Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.bbadis.2011.04.005DOI Listing
August 2011

Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.

J Biol Chem 2011 Mar 17;286(12):10073-83. Epub 2011 Jan 17.

Strategic Research Centre for Molecular and Medical Research, School of Life and Environmental Sciences, Deakin University, Burwood, Victoria 3125, Australia.

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http://dx.doi.org/10.1074/jbc.M110.190546DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3060459PMC
March 2011

Biochemical and cellular functions of P4 ATPases.

Biochem J 2010 Oct;431(1):1-11

Department of Metabolic and Endocrine Diseases, UMC Utrecht, and Netherlands Metabolomics Centre, Utrecht, 3508 AB, The Netherlands.

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http://dx.doi.org/10.1042/BJ20100644DOI Listing
October 2010

Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.

Best Pract Res Clin Gastroenterol 2010 Oct;24(5):541-53

Department of Paediatric Gastroenterology (KE.01.144.3), Wilhelmina Children's Hospital, University Medical Centre Utrecht, Post-Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.bpg.2010.07.010DOI Listing
October 2010

Cu,Zn superoxide dismutase maturation and activity are regulated by COMMD1.

J Biol Chem 2010 Sep 1;285(37):28991-9000. Epub 2010 Jul 1.

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1074/jbc.M110.101477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2937926PMC
September 2010

Bile acids and their nuclear receptor FXR: Relevance for hepatobiliary and gastrointestinal disease.

Biochim Biophys Acta 2010 Jul 23;1801(7):683-92. Epub 2010 Apr 23.

Department of Gastroenterology and Hepatology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.bbalip.2010.04.006DOI Listing
July 2010

COMMD1 disrupts HIF-1alpha/beta dimerization and inhibits human tumor cell invasion.

J Clin Invest 2010 Jun 10;120(6):2119-30. Epub 2010 May 10.

Complex Genetics Section, Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center Utrecht, Utrecht, Netherlands.

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http://dx.doi.org/10.1172/JCI40583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2877941PMC
June 2010

Liver disease associated with canalicular transport defects: current and future therapies.

J Hepatol 2010 Feb 21;52(2):258-71. Epub 2009 Nov 21.

Department of Paediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.jhep.2009.11.012DOI Listing
February 2010

Posttranslational regulation of copper transporters.

J Biol Inorg Chem 2010 Jan 8;15(1):37-46. Epub 2009 Oct 8.

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, The Netherlands.

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http://dx.doi.org/10.1007/s00775-009-0592-7DOI Listing
January 2010

Clusterin facilitates COMMD1 and I-kappaB degradation to enhance NF-kappaB activity in prostate cancer cells.

Mol Cancer Res 2010 Jan 12;8(1):119-30. Epub 2010 Jan 12.

The Vancouver Prostate Centre and Department of Urological Sciences, University of British Columbia, Vancouver, British Columbia, Canada.

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http://dx.doi.org/10.1158/1541-7786.MCR-09-0277DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2808437PMC
January 2010

New developments in the regulation of intestinal copper absorption.

Nutr Rev 2009 Nov;67(11):658-72

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1111/j.1753-4887.2009.00250.xDOI Listing
November 2009

COMMD1 Promotes pVHL and O2-Independent Proteolysis of HIF-1alpha via HSP90/70.

PLoS One 2009 Oct 5;4(10):e7332. Epub 2009 Oct 5.

Complex Genetics Section, DBG-Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0007332PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2750754PMC
October 2009

ATOX1: a novel copper-responsive transcription factor in mammals?

Int J Biochem Cell Biol 2009 Jun 7;41(6):1233-6. Epub 2008 Aug 7.

Laboratory for Metabolic and Endocrine Diseases, UMC Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.biocel.2008.08.001DOI Listing
June 2009

ATP8B1 is essential for maintaining normal hearing.

Proc Natl Acad Sci U S A 2009 Jun 28;106(24):9709-14. Epub 2009 May 28.

Department of Pediatric Gastroenterology, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1073/pnas.0807919106DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2700994PMC
June 2009

COMMD1 expression is controlled by critical residues that determine XIAP binding.

Biochem J 2009 Jan;417(2):601-9

Department of Internal Medicine, University of Michigan Medical School, 109 Zina Pitcher Place, Ann Arbor, MI 48109, U.S.A.

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http://dx.doi.org/10.1042/BJ20080854DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2606926PMC
January 2009

Role of transition metals in the pathogenesis of amyotrophic lateral sclerosis.

Biochem Soc Trans 2008 Dec;36(Pt 6):1322-8

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Netherlands Metabolomics Center, Utrecht, The Netherlands.

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http://dx.doi.org/10.1042/BST0361322DOI Listing
December 2008

Transcription factor Sp1 plays an important role in the regulation of copper homeostasis in mammalian cells.

Mol Pharmacol 2008 Sep 15;74(3):705-13. Epub 2008 May 15.

Department of Molecular Pathology, The University of Texas M. D. Anderson Cancer Center, 1515 Holcombe Blvd., Houston, TX 77030, USA.

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http://dx.doi.org/10.1124/mol.108.046771DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2574735PMC
September 2008

Novel perspectives in mammalian copper metabolism through the use of genome-wide approaches.

Am J Clin Nutr 2008 Sep;88(3):821S-5S

Laboratory for Metabolic and Endocrine Diseases, UMC Utrecht, Utrecht, Netherlands.

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http://dx.doi.org/10.1093/ajcn/88.3.821SDOI Listing
September 2008

Cerebrospinal fluid D-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients.

Eur Neuropsychopharmacol 2008 May 7;18(5):333-8. Epub 2008 Feb 7.

Department of Metabolic and Endocrine Diseases and Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.euroneuro.2007.12.002DOI Listing
May 2008

Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.

Gastroenterology 2007 Oct 25;133(4):1316-26. Epub 2007 Jul 25.

Laboratory of Metabolic and Endocrine Diseases, Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center, Utrecht, the Netherlands.

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http://dx.doi.org/10.1053/j.gastro.2007.07.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2857755PMC
October 2007

COMMD1: a novel protein involved in the proteolysis of proteins.

Cell Cycle 2007 Sep 22;6(17):2091-8. Epub 2007 Jun 22.

DBG-Department of Medical Genetics, Laboratory for Metabolic and Endocrine Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.4161/cc.6.17.4646DOI Listing
September 2007

Increased activity of hypoxia-inducible factor 1 is associated with early embryonic lethality in Commd1 null mice.

Mol Cell Biol 2007 Jun 19;27(11):4142-56. Epub 2007 Mar 19.

Laboratory of Metabolic and Endocrine Diseases, Room KC.02.069.1, UMC Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1128/MCB.01932-06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1900009PMC
June 2007

Gene expression profiling of liver cells after copper overload in vivo and in vitro reveals new copper-regulated genes.

J Biol Inorg Chem 2007 May 9;12(4):495-507. Epub 2007 Jan 9.

Laboratory for Metabolic and Endocrine Diseases, University Medical Centre, Utrecht, The Netherlands.

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http://link.springer.com/10.1007/s00775-006-0201-y
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http://dx.doi.org/10.1007/s00775-006-0201-yDOI Listing
May 2007

Variation of linker length in ratiometric fluorescent sensor proteins allows rational tuning of Zn(II) affinity in the picomolar to femtomolar range.

J Am Chem Soc 2007 Mar 3;129(12):3494-5. Epub 2007 Mar 3.

Laboratory of Macromolecular and Organic Chemistry, Department of Biomedical Engineering, Eindhoven University of Technology, P.O. Box 513, 5600 MB Eindhoven, The Netherlands.

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http://pubs.acs.org/doi/abs/10.1021/ja069105d
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http://dx.doi.org/10.1021/ja069105dDOI Listing
March 2007

D-serine in the developing human central nervous system.

Ann Neurol 2006 Oct;60(4):476-80

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ana.20977DOI Listing
October 2006

Characterization of COMMD protein-protein interactions in NF-kappaB signalling.

Biochem J 2006 Aug;398(1):63-71

Laboratory of Metabolic and Endocrine Diseases, University Medical Center, Utrecht, 3584 EA, The Netherlands.

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http://dx.doi.org/10.1042/BJ20051664DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1525016PMC
August 2006

Ratiometric fluorescent sensor proteins with subnanomolar affinity for Zn(II) based on copper chaperone domains.

J Am Chem Soc 2006 Aug;128(33):10754-62

Laboratory of Macromolecular and Organic Chemistry, Department of Biomedical Engineering, Eindhoven University of Technology P.O. Box 513, 5600 MB Eindhoven, The Netherlands.

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http://dx.doi.org/10.1021/ja0610030DOI Listing
August 2006

Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity.

Pediatr Res 2006 Mar;59(3):365-70

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://www.nature.com/doifinder/10.1203/01.pdr.0000198810.57
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http://dx.doi.org/10.1203/01.pdr.0000198810.57642.b4DOI Listing
March 2006

D-amino acids in the central nervous system in health and disease.

Mol Genet Metab 2005 Jul;85(3):168-80

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2005.03.003DOI Listing
July 2005

Fic1 is expressed at apical membranes of different epithelial cells in the digestive tract and is induced in the small intestine during postnatal development of mice.

Pediatr Res 2004 Dec 20;56(6):981-7. Epub 2004 Oct 20.

Department of Pediatric Gastroenterology, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1203/01.PDR.0000145564.06791.D1DOI Listing
December 2004

The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.

J Hepatol 2004 Nov;41(5):758-63

Department of Pediatric Gastroenterology, Wilhelmina Children's Hospital, University Medical Center, P.O. Box 85090, 3508 AB Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/j.jhep.2004.07.017DOI Listing
November 2004

Copper-dependent protein-protein interactions studied by yeast two-hybrid analysis.

Biochem Biophys Res Commun 2004 Oct;323(3):789-95

Laboratory of Macromolecular and Organic Chemistry, Department of Biomedical Engineering, Eindhoven University of Technology, P.O. Box 513, 5600 MB Eindhoven, The Netherlands.

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http://dx.doi.org/10.1016/j.bbrc.2004.08.160DOI Listing
October 2004

Cisplatin rapidly down-regulates its own influx transporter hCTR1 in cultured human ovarian carcinoma cells.

Clin Cancer Res 2004 Oct;10(19):6744-9

Department of Medicine and the Rebecca and John Moores Cancer Center, University of California at San Diego, La Jolla, California 92093-0058, USA.

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http://dx.doi.org/10.1158/1078-0432.CCR-04-0748DOI Listing
October 2004

Serine-deficiency syndromes.

Curr Opin Neurol 2004 Apr;17(2):197-204

Department of Metabolic Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands.

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April 2004

Molecular regulation of copper excretion in the liver.

Proc Nutr Soc 2004 Feb;63(1):31-9

Department of Biomedical Genetics, University Medical Center, Stratenum 2.117, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands.

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http://dx.doi.org/10.1079/pns2003316DOI Listing
February 2004

Extensive changes in liver gene expression induced by hereditary tyrosinemia type I are not normalized by treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC).

J Hepatol 2003 Dec;39(6):901-9

Department of Metabolic Diseases, Laboratory for Metabolic and Endocrine Diseases, Room KC02.069.1, University Medical Center, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/s0168-8278(03)00433-1DOI Listing
December 2003

The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes.

Nature 2003 Dec;426(6968):853-7

Vaccine Research Center, NIAID, National Institutes of Health, Building 40, Room 4502, MSC-3005, 40 Convent Drive, Bethesda, Maryland 20892-3005, USA.

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http://dx.doi.org/10.1038/nature02171DOI Listing
December 2003

The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis.

J Hepatol 2003 Nov;39(5):703-9

Department of Metabolic and Endocrinic Diseases, University Medical Center Utrecht, room KC02.069.1, Utrecht University, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1016/s0168-8278(03)00380-5DOI Listing
November 2003

The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.

J Biol Chem 2003 Oct 10;278(43):41593-6. Epub 2003 Sep 10.

Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, McDonnell Pediatric Research Building, 660 South Euclid Avenue, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1074/jbc.C300391200DOI Listing
October 2003

Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation.

J Hepatol 2003 Sep;39(3):447-52

Department of Pediatrics, Hepatology Unit, Bicêtre University Hospital, Assistance Publique--Hôpitaux de Paris, 78, rue du Général Leclerc, 94275 Le Kremlin Bicêtre, France.

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http://dx.doi.org/10.1016/s0168-8278(03)00286-1DOI Listing
September 2003

The N-terminus of the human copper transporter 1 (hCTR1) is localized extracellularly, and interacts with itself.

Biochem J 2003 Mar;370(Pt 3):881-9

Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Room KC.02.069.1, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1042/BJ20021128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1223224PMC
March 2003

Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1).

Biochem J 2002 Jun;364(Pt 2):497-505

Department of Metabolic Diseases, University Medical Center Utrecht, Lundlaan 6, 3584 EA Utrecht, The Netherlands.

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http://dx.doi.org/10.1042/BJ20011803DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1222595PMC
June 2002

Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum.

J Hepatol 2002 Mar;36(3):439-43

Department of Gastroenterology, Gastrointestinal Research Unit, University Medical Center, PO Box 85500, 3508, Utrecht GA, The Netherlands.

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http://dx.doi.org/10.1016/s0168-8278(01)00299-9DOI Listing
March 2002