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Leo Klomp

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Lieke M van der Velden; Saskia W C van Mil; Ingrid T G W Bijsmans; Misha V Golynskiy; Leo W J Klomp; Maarten Merkx; Stan F J van de Graaf
Monitoring bile acid transport in single living cells using a genetically encoded Förster resonance energy transfer sensor.
Sabine A Fuchs; Leo W J Klomp; Cacha M P C D Peeters-Scholte; Martin W Roeleveld; Ruud Berger; Martina M J de Barse; Tom J de Koning
Increased concentrations of both NMDA receptor co-agonists D-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia.
Stephanie Materia; Julian F B Mercer; Michael A Cater; Leo W J Klomp; Sharon La Fontaine
Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.

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2013: Lieke M van der Velden; Saskia W C van Mil; Ingrid T G W Bijsmans; Misha V Golynskiy; Leo W J Klomp; Maarten Merkx; Stan F J van de Graaf
Monitoring bile acid transport in single living cells using a genetically encoded Förster resonance energy transfer sensor.
Hepatology (Baltimore, Md.) 2013;57(2):740-52.
2012: Sabine A Fuchs; Leo W J Klomp; Cacha M P C D Peeters-Scholte; Martin W Roeleveld; Ruud Berger; Martina M J de Barse; Tom J de Koning
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;43(1):355-63.
2012: Stephanie Materia; Julian F B Mercer; Michael A Cater; Leo W J Klomp; Sharon La Fontaine
Clusterin and COMMD1 independently regulate degradation of the mammalian copper ATPases ATP7A and ATP7B.
The Journal of biological chemistry 2012;287(4):2485-99.
2012: Sabine A Fuchs; Leo W J Klomp; Martin W Roeleveld; Ruud Berger; Tom J de Koning
D-serine influences synaptogenesis in a p19 cell model.
JIMD reports 2012;6():47-53.
2011: Raffaella M Gadaleta; Leo W J Klomp; Stefania Murzilli; Bas Oldenburg; Lorena Salvatore; Peter D Siersema; Maureen Spit; Karel J van Erpecum; Ellen C L Willemsen; Saskia W C van Mil
Activation of bile salt nuclear receptor FXR is repressed by pro-inflammatory cytokines activating NF-κB signaling in the intestine.
Biochimica et biophysica acta 2011;1812(8):851-8.
2011: Raffaella M Gadaleta; Karel J van Erpecum; Bas Oldenburg; Ellen C L Willemsen; Willem Renooij; Stefania Murzilli; Leo W J Klomp; Peter D Siersema; Marguerite E I Schipper; Silvio Danese; Giuseppe Penna; Gilles Laverny; Luciano Adorini; Antonio Moschetta; Saskia W C van Mil
Farnesoid X receptor activation inhibits inflammation and preserves the intestinal barrier in inflammatory bowel disease.
Gut 2011;60(4):463-72.
2011: Stephanie Materia; Michael A Cater; Leo W J Klomp; Julian F B Mercer; Sharon La Fontaine
Clusterin (apolipoprotein J), a molecular chaperone that facilitates degradation of the copper-ATPases ATP7A and ATP7B.
The Journal of biological chemistry 2011;286(12):10073-83.
2011: L Tabatabaie; Leo W J Klomp; M E Rubio-Gozalbo; L J M Spaapen; A A M Haagen; Lambertus Dorland; Tom J de Koning
Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency.
Journal of inherited metabolic disease 2011;34(1):181-4.
2010: Lieke M van der Velden; Catharina G K Wichers; Adriana E D van Breevoort; Jonathan A Coleman; Robert S Molday; Ruud Berger; Leo W J Klomp; Stan F J van de Graaf
Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases.
The Journal of biological chemistry 2010;285(51):40088-96.
2010: Wendy L van der Woerd; Saskia W C van Mil; Janneke M Stapelbroek; Leo W J Klomp; Stan F J van de Graaf; Roderick H J Houwen
Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.
Best practice & research. Clinical gastroenterology 2010;24(5):541-53.
2010: Alexandra Milona; Bryn M Owen; Jeremy-F-L Cobbold; Ellen C L Willemsen; I Jane Cox; Mohamed Boudjelal; William Cairns; Kristina Schoonjans; Simon D Taylor-Robinson; Leo W J Klomp; Malcolm G Parker; Roger White; Saskia W C van Mil; Catherine Williamson
Raised hepatic bile acid concentrations during pregnancy in mice are associated with reduced farnesoid X receptor function.
Hepatology (Baltimore, Md.) 2010;52(4):1341-9.
2010: Lieke M van der Velden; Stan F J van de Graaf; Leo W J Klomp
Biochemical and cellular functions of P4 ATPases.
The Biochemical journal 2010;431(1):1-11.
2010: Willianne I M Vonk; Cisca Wijmenga; Ruud Berger; Bart van De Sluis; Leo W J Klomp
Cu,Zn superoxide dismutase maturation and activity are regulated by COMMD1.
The Journal of biological chemistry 2010;285(37):28991-9000.
2010: Raffaella M Gadaleta; Saskia W C van Mil; Bas Oldenburg; Peter D Siersema; Leo W J Klomp; Karel J van Erpecum
Bile acids and their nuclear receptor FXR: Relevance for hepatobiliary and gastrointestinal disease.
Biochimica et biophysica acta 2010;1801(7):683-92.
2010: L Tabatabaie; Leo W J Klomp; Ruud Berger; Tom J de Koning
L-serine synthesis in the central nervous system: a review on serine deficiency disorders.
Molecular genetics and metabolism 2010;99(3):256-62.
2010: Janneke M Stapelbroek; Karel J van Erpecum; Leo W J Klomp; Roderick H J Houwen
Liver disease associated with canalicular transport defects: current and future therapies.
Journal of hepatology 2010;52(2):258-71.
2010: Amina Zoubeidi; Susan Ettinger; Eliana Beraldi; Boris A Hadaschik; Anousheh Zardan; Leo W J Klomp; Colleen C Nelson; Paul S Rennie; Martin E Gleave
Clusterin facilitates COMMD1 and I-kappaB degradation to enhance NF-kappaB activity in prostate cancer cells.
Molecular cancer research : MCR 2010;8(1):119-30.
2010: Lieke M van der Velden; Janneke M Stapelbroek; Elmar Krieger; Peter van den Berghe; Ruud Berger; Patricia Verhulst; Joost C M Holthuis; Roderick H J Houwen; Leo W J Klomp; Stan F J van de Graaf
Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate.
Hepatology (Baltimore, Md.) 2010;51(1):286-96.
2010: Peter van den Berghe; Leo W J Klomp
Posttranslational regulation of copper transporters.
Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry 2010;15(1):37-46.
2009: Peter van den Berghe; Janneke M Stapelbroek; Elmar Krieger; Prim de Bie; Stan F J van de Graaf; Reinoud E A de Groot; Ellen van Beurden; Ellen Spijker; Roderick H J Houwen; Ruud Berger; Leo W J Klomp
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
Hepatology (Baltimore, Md.) 2009;50(6):1783-95.
2009: Peter van den Berghe; Leo W J Klomp
New developments in the regulation of intestinal copper absorption.
Nutrition reviews 2009;67(11):658-72.
2009: Janneke M Stapelbroek; Theo A Peters; Denis H A van Beurden; Jo H A J Curfs; Anneke Joosten; Andy J Beynon; Bibian M van Leeuwen; Lieke M van der Velden; Laura Bull; Ronald P Oude Elferink; Bert A van Zanten; Leo W J Klomp; Roderick H J Houwen
ATP8B1 is essential for maintaining normal hearing.
Proceedings of the National Academy of Sciences of the United States of America 2009;106(24):9709-14.
2009: Patricia A J Muller; Leo W J Klomp
ATOX1: a novel copper-responsive transcription factor in mammals?
The international journal of biochemistry & cell biology 2009;41(6):1233-6.
2009: L Tabatabaie; Tom J de Koning; A J J M Geboers; Inge E T van den Berg; Ruud Berger; Leo W J Klomp
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.
Human mutation 2009;30(5):749-56.
2009: Patricia A J Muller; Bart van De Sluis; Arjan J Groot; Dineke Verbeek; Willianne I M Vonk; Gabriel N Maine; Ezra Burstein; Cisca Wijmenga; Marc Vooijs; Eric Reits; Leo W J Klomp
Nuclear-cytosolic transport of COMMD1 regulates NF-kappaB and HIF-1 activity.
Traffic (Copenhagen, Denmark) 2009;10(5):514-27.
2009: Bart van De Sluis; Arjan J Groot; Jeroen Vermeulen; ELSKEN VAN DER WALL; Paulus van Diest; Cisca Wijmenga; Leo W J Klomp; Marc Vooijs
COMMD1 Promotes pVHL and O2-Independent Proteolysis of HIF-1alpha via HSP90/70.
PloS one 2009;4(10):e7332.
2008: Willianne Vonk; Leo W J Klomp
Role of transition metals in the pathogenesis of amyotrophic lateral sclerosis.
Biochemical Society transactions 2008;36(Pt 6):1322-8.
2008: Patricia Aj Muller; Leo W J Klomp
Novel perspectives in mammalian copper metabolism through the use of genome-wide approaches.
The American journal of clinical nutrition 2008;88(3):821S-5S.
2008: Sabine A Fuchs; Monique G M de Sain-Van Der Velden; Martina M J de Barse; Martin W Roeleveld; Margriet Hendriks; Lambertus Dorland; Leo W J Klomp; Ruud Berger; Tom J de Koning
Two mass-spectrometric techniques for quantifying serine enantiomers and glycine in cerebrospinal fluid: potential confounders and age-dependent ranges.
Clinical chemistry 2008;54(9):1443-50.
2008: Helen H W Chen; Im-Sook Song; Anwar Hossain; Min-Koo Choi; Y Yamane; Zheng D Liang; Jia Lu; Lily Y-H Wu; Zahid H Siddik; Leo W J Klomp; Niramol Savaraj; M Tien Kuo
Elevated glutathione levels confer cellular sensitization to cisplatin toxicity by up-regulation of copper transporter hCtr1.
Molecular pharmacology 2008;74(3):697-704.
2008: Im-Sook Song; Helen H W Chen; Isamu Aiba; Anwar Hossain; Zheng D Liang; Leo W J Klomp; M Tien Kuo
Transcription factor Sp1 plays an important role in the regulation of copper homeostasis in mammalian cells.
Molecular pharmacology 2008;74(3):705-13.
2008: Sabine A Fuchs; Martina M J de Barse; Floor E Scheepers; Wiepke Cahn; Lambertus Dorland; Monique G M de Sain-Van Der Velden; Leo W J Klomp; Ruud Berger; René S Kahn; Tom J de Koning
Cerebrospinal fluid D-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients.
European neuropsychopharmacology : the journal of the European College of Neuropsychopharmacology 2008;18(5):333-8.
2007: Prim de Bie; Patricia Muller; Cisca Wijmenga; Leo W J Klomp
Molecular pathogenesis of Wilson and Menkes disease: correlation of mutations with molecular defects and disease phenotypes.
Journal of medical genetics 2007;44(11):673-88.
2007: M Aldenhoven; Leo W J Klomp; P M van Hasselt; Tom J de Koning; Gepke Visser
[From gene to disease; Menkes disease: copper deficiency due to an ATP7A-gene defect].
Nederlands tijdschrift voor geneeskunde 2007;151(41):2266-70.
2007: Prim de Bie; Bart van De Sluis; Ezra Burstein; Peter van den Berghe; Patricia Muller; Ruud Berger; Jonathan D Gitlin; Cisca Wijmenga; Leo W J Klomp
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
Gastroenterology 2007;133(4):1316-26.
2007: Peter van den Berghe; Dineke E Folmer; Helga E M Malingré; Ellen A C M van Beurden; Adriana E M Klomp; Bart van De Sluis; Maarten Merkx; Ruud Berger; Leo W J Klomp
Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake.
The Biochemical journal 2007;407(1):49-59.
2007: Bart van De Sluis; Arjan J Groot; Cisca Wijmenga; Marc Vooijs; Leo W J Klomp
COMMD1: a novel protein involved in the proteolysis of proteins.
Cell cycle (Georgetown, Tex.) 2007;6(17):2091-8.
2007: Bart van De Sluis; Patricia Muller; Karen J Duran; Amy Chen; Arjan J Groot; Leo W J Klomp; Paul P Liu; Cisca Wijmenga
Increased activity of hypoxia-inducible factor 1 is associated with early embryonic lethality in Commd1 null mice.
Molecular and cellular biology 2007;27(11):4142-56.
2007: Patricia Muller; Harm van Bakel; Bart van De Sluis; Frank C P Holstege; Cisca Wijmenga; Leo W J Klomp
Gene expression profiling of liver cells after copper overload in vivo and in vitro reveals new copper-regulated genes.
Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry 2007;12(4):495-507.
2007: Elisabeth M W M van Dongen; Toon H Evers; Linda M Dekkers; EW Meijer; Leo W J Klomp; Maarten Merkx
Variation of linker length in ratiometric fluorescent sensor proteins allows rational tuning of Zn(II) affinity in the picomolar to femtomolar range.
Journal of the American Chemical Society 2007;129(12):3494-5.
2006: Sabine A Fuchs; Lambertus Dorland; Monique G M de Sain-Van Der Velden; Margriet Hendriks; Leo W J Klomp; Ruud Berger; Tom J de Koning
D-serine in the developing human central nervous system.
Annals of neurology 2006;60(4):476-80.
2006: Elisabeth M W M van Dongen; Linda M Dekkers; Kristie Spijker; EW Meijer; Leo W J Klomp; Maarten Merkx
Ratiometric fluorescent sensor proteins with subnanomolar affinity for Zn(II) based on copper chaperone domains.
Journal of the American Chemical Society 2006;128(33):10754-62.
2006: Prim de Bie; Bart van De Sluis; Ezra Burstein; Karen J Duran; Ruud Berger; Colin S Duckett; Cisca Wijmenga; Leo W J Klomp
Characterization of COMMD protein-protein interactions in NF-kappaB signalling.
The Biochemical journal 2006;398(1):63-71.
2006: Saskia M M Jacobs; Denis H A van Beurden; Leo W J Klomp; Ruud Berger; Inge E T van den Berg
Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity.
Pediatric research 2006;59(3):365-70.
2006: Janneke M Stapelbroek; Karel J van Erpecum; Leo W J Klomp; Niels G Venneman; Thijs P Schwartz; Gerard P van Berge-Henegouwen; John Devlin; Carin M J van Nieuwkerk; Alex S Knisely; Roderick H J Houwen
Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis.
Hepatology (Baltimore, Md.) 2006;43(1):51-3.
2005: Sabine A Fuchs; Ruud Berger; Leo W J Klomp; Tom J de Koning
D-amino acids in the central nervous system in health and disease.
Molecular genetics and metabolism 2005;85(3):168-80.
2005: Saskia W C van Mil; Roderick H J Houwen; Leo W J Klomp
Genetics of familial intrahepatic cholestasis syndromes.
Journal of medical genetics 2005;42(6):449-63.
2005: Prim de Bie; Bart van De Sluis; Leo W J Klomp; Cisca Wijmenga
The many faces of the copper metabolism protein MURR1/COMMD1.
The Journal of heredity 2005;96(7):803-11.
2004: Tom J de Koning; Leo W J Klomp; A C C van Oppen; Frits A Beemer; Lambertus Dorland; Inge E T van den Berg; Ruud Berger
Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency.
Lancet 2004;364(9452):2221-2.
2004: Saskia W C van Mil; Masja M van Oort; Inge E T van den Berg; Ruud Berger; Roderick H J Houwen; Leo W J Klomp
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.
Pediatric research 2004;56(6):981-7.
2004: Janneke M Stapelbroek; Casper W Bollen; Johannes K Ploos van Amstel; Karel J van Erpecum; Jan van Hattum; Leonard H van den Berg; Leo W J Klomp; Roderick H J Houwen
The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.
Journal of hepatology 2004;41(5):758-63.
2004: Elisabeth M W M van Dongen; Leo W J Klomp; Maarten Merkx
Copper-dependent protein-protein interactions studied by yeast two-hybrid analysis.
Biochemical and biophysical research communications 2004;323(3):789-95.
2004: Alison K Holzer; Kuniyuki Katano; Leo W J Klomp; Stephen B Howell
Cisplatin rapidly down-regulates its own influx transporter hCTR1 in cultured human ovarian carcinoma cells.
Clinical cancer research : an official journal of the American Association for Cancer Research 2004;10(19):6744-9.
2004: Marjanka C Luijerink; Ellen A C M van Beurden; Helga E M Malingré; Saskia M M Jacobs; Markus Grompe; Leo W J Klomp; Ruud Berger; Inge E T van den Berg
Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1.
Kidney international 2004;66(3):990-1000.
2004: Saskia W C van Mil; Wendy L van der Woerd; Gerda van der Brugge; Ekkehard Sturm; Peter L M Jansen; Laura N Bull; Inge E T van den Berg; Ruud Berger; Roderick H J Houwen; Leo W J Klomp
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
Gastroenterology 2004;127(2):379-84.
2004: Leo W J Klomp; Julie C Vargas; Saskia W C van Mil; Ludmila Pawlikowska; Sandra S Strautnieks; Michiel J T van Eijk; Jenneke A Juijn; Carlos Pabón-Peña; Lauren B Smith; Joseph DeYoung; Jonathan A Byrne; Justijn Gombert; Gerda van der Brugge; Ruud Berger; Irena Jankowska; Joanna Pawlowska; Erica Villa; Alex S Knisely; Richard John Thompson; Nelson B Freimer; Roderick H J Houwen; Laura N Bull
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Hepatology (Baltimore, Md.) 2004;40(1):27-38.
2004: Paul Gissen; Colin A Johnson; Neil V Morgan; Janneke M Stapelbroek; Tim Forshew; Wendy N Cooper; Patrick J McKiernan; Leo W J Klomp; Andrew A M Morris; James Wraith; Patricia McClean; Sally A Lynch; Richard John Thompson; Bryan Lo; Oliver W Quarrell; Maja Di Rocco; Richard C Trembath; Hanna Mandel; S Wali; Fiona E Karet; Alex S Knisely; Roderick H J Houwen; Deirdre A Kelly; Eamonn R Maher
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Nature genetics 2004;36(4):400-4.
2004: Tom J de Koning; Leo W J Klomp
Serine-deficiency syndromes.
Current opinion in neurology 2004;17(2):197-204.
2004: Cisca Wijmenga; Leo W J Klomp
Molecular regulation of copper excretion in the liver.
The Proceedings of the Nutrition Society 2004;63(1):31-9.
2004: Ezra Burstein; Lakshmanan Ganesh; Robert D Dick; Bart van De Sluis; John C Wilkinson; Leo W J Klomp; Cisca Wijmenga; George J Brewer; Gary Nabel; Colin S Duckett
A novel role for XIAP in copper homeostasis through regulation of MURR1.
The EMBO journal 2004;23(1):244-54.
2003: Lakshmanan Ganesh; Ezra Burstein; Anuradha Guha-Niyogi; Mark K Louder; John R Mascola; Leo W J Klomp; Cisca Wijmenga; Colin S Duckett; Gary Nabel
The gene product Murr1 restricts HIV-1 replication in resting CD4+ lymphocytes.
Nature 2003;426(6968):853-7.
2003: Marjanka C Luijerink; Saskia M M Jacobs; Ellen A C M van Beurden; Leander P Koornneef; Leo W J Klomp; Ruud Berger; Inge E T van den Berg
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).
Journal of hepatology 2003;39(6):901-9.
2003: Adriana E M Klomp; Bart van De Sluis; Leo W J Klomp; Cisca Wijmenga
The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis.
Journal of hepatology 2003;39(5):703-9.
2003: Ting Y Tao; Fengli Liu; Leo W J Klomp; Cisca Wijmenga; Jonathan D Gitlin
The copper toxicosis gene product Murr1 directly interacts with the Wilson disease protein.
The Journal of biological chemistry 2003;278(43):41593-6.
2003: Janneke M Stapelbroek; J K Ploos van Amstel; Jan van Hattum; L H van den Berg; Leo W J Klomp; Roderick H J Houwen
[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B].
Nederlands tijdschrift voor geneeskunde 2003;147(13):603-5.
2003: Adriana E M Klomp; Jenneke A Juijn; Linda T M van der Gun; Inge E T van den Berg; Ruud Berger; Leo W J Klomp
The N-terminus of the human copper transporter 1 (hCTR1) is localized extracellularly, and interacts with itself.
The Biochemical journal 2003;370(Pt 3):881-9.
2002: Berthil H C M T Prinsen; George A Kaysen; Leo W J Klomp; Jose de Boer; Hugh Barrett; Paul J Thornalley; Sinan Battah; Ruud Berger; ton rabelink; Monique G M de Sain-Van Der Velden
Idiopathic hypoalbuminemia explained by reduced synthesis rate and an increased catabolic rate.
Clinical biochemistry 2002;35(7):545-53.
2002: Adriana E M Klomp; Bastiaan B J Tops; Inge E T Van Denberg; Ruud Berger; Leo W J Klomp
Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1).
The Biochemical journal 2002;364(Pt 2):497-505.
2002: Nancy A M van Ooteghem; Leo W J Klomp; Gerard P van Berge-Henegouwen; Roderick H J Houwen
Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum.
Journal of hepatology 2002;36(3):439-43.
2001: Saskia W C van Mil; Leo W J Klomp; Laura N Bull; Roderick H J Houwen
FIC1 disease: a spectrum of intrahepatic cholestatic disorders.
Seminars in liver disease 2001;21(4):535-44.
2001: E F Eppens; Saskia W C van Mil; J Marleen L de Vree; K S Mok; Jenneke A Juijn; Ronald P J Oude Elferink; Ruud Berger; Roderick H J Houwen; Leo W J Klomp
FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte.
Journal of hepatology 2001;35(4):436-43.
2000: Leo W J Klomp; Laura N Bull; Alex S Knisely; M A van Der Doelen; Jenneke A Juijn; Ruud Berger; S Forget; I M Nielsen; Hans Eiberg; Roderick H J Houwen
A missense mutation in FIC1 is associated with greenland familial cholestasis.
Hepatology (Baltimore, Md.) 2000;32(6):1337-41.
2000: Leo W J Klomp; Tom J de Koning; Helga E M Malingré; Ellen A C M van Beurden; M Brink; F L Opdam; Marinus Duran; J Jaeken; M Pineda; L Van Maldergem; Bwee Tien Poll-The; Inge E T van den Berg; Ruud Berger
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis.
American journal of human genetics 2000;67(6):1389-99.
2000: Iqbal Hamza; Leo W J Klomp; R Gaedigk; R A White; Jonathan D Gitlin
Structure, expression, and chromosomal localization of the mouse Atox1 gene.
Genomics 2000;63(2):294-7.
1999: Iqbal Hamza; M Schaefer; Leo W J Klomp; Jonathan D Gitlin
Interaction of the copper chaperone HAH1 with the Wilson disease protein is essential for copper homeostasis.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(23):13363-8.
1999: Laura N Bull; Jenneke A Juijn; M Liao; M J van Eijk; Richard J Sinke; N L Stricker; Joseph DeYoung; Victoria E H Carlton; S Baharloo; Leo W J Klomp; Daiki Abukawa; David Barton; N M Bass; B Bourke; Brendan Drumm; Irena Jankowska; P Lovisetto; Shirley McQuaid; Joanna Pawlowska; Yusaku Tazawa; E Villa; Niels Tygstrup; Ruud Berger; Alex S Knisely; Nelson B Freimer
Fine-resolution mapping by haplotype evaluation: the examples of PFIC1 and BRIC.
Human genetics 1999;104(3):241-8.
1999: Valeria Cizewski Culotta; S J Lin; P Schmidt; Leo W J Klomp; RL Casareno; Jonathan D Gitlin
Intracellular pathways of copper trafficking in yeast and humans.
Advances in experimental medicine and biology 1999;448():247-54.
1998: Z Leah Harris; Leo W J Klomp; Jonathan D Gitlin
Aceruloplasminemia: an inherited neurodegenerative disease with impairment of iron homeostasis.
The American journal of clinical nutrition 1998;67(5 Suppl):972S-977S.
1998: Laura N Bull; M J van Eijk; Ludmila Pawlikowska; Joseph DeYoung; Jenneke A Juijn; M Liao; Leo W J Klomp; Noureddine Lomri; Ruud Berger; Bruce F Scharschmidt; Alex S Knisely; Roderick H J Houwen; Nelson B Freimer
A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis.
Nature genetics 1998;18(3):219-24.
1997: Valeria Cizewski Culotta; Leo W J Klomp; J Strain; RL Casareno; B Krems; Jonathan D Gitlin
The copper chaperone for superoxide dismutase.
The Journal of biological chemistry 1997;272(38):23469-72.
1997: Leo W J Klomp; S J Lin; Daniel S Yuan; Richard D Klausner; Valeria Cizewski Culotta; Jonathan D Gitlin
Identification and functional expression of HAH1, a novel human gene involved in copper homeostasis.
The Journal of biological chemistry 1997;272(14):9221-6.
1996: Leo W J Klomp; Jonathan D Gitlin
Expression of the ceruloplasmin gene in the human retina and brain: implications for a pathogenic model in aceruloplasminemia.
Human molecular genetics 1996;5(12):1989-96.
1996: Leo W J Klomp; Z S Farhangrazi; Laura L Dugan; Jonathan D Gitlin
Ceruloplasmin gene expression in the murine central nervous system.
The Journal of clinical investigation 1996;98(1):207-15.