Leo W J Klomp

Summary

Affiliation: University Medical Center
Country: The Netherlands

Publications

  1. pmc Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis
    L W Klomp
    Department of Metabolic Diseases, University Medical Center Utrecht, 3584 AE Utrecht, The Netherlands
    Am J Hum Genet 67:1389-99. 2000
  2. ncbi request reprint Control by signaling modulators of the sorting of canalicular transporters in rat hepatocyte couplets: role of the cytoskeleton
    M G Roma
    Institute of Experimental Physiology, CONICET University of Rosario, Argentina
    Hepatology 32:1342-56. 2000
  3. ncbi request reprint Characterization of mutations in ATP8B1 associated with hereditary cholestasis
    Leo W J Klomp
    Department of Metabolic and Endocrine Diseases, University Medical Center, Utrecht, The Netherlands
    Hepatology 40:27-38. 2004
  4. pmc Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B
    Prim de Bie
    Laboratory of Metabolic and Endocrine Diseases, Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands
    Gastroenterology 133:1316-26. 2007
  5. doi request reprint Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin
    Peter V E van den Berghe
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, and the Netherlands Metabolomics Center, Utrecht, The Netherlands
    Hepatology 50:1783-95. 2009
  6. pmc The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression
    Willianne I M Vonk
    Department of Metabolic and Endocrine Diseases, Netherlands Metabolomics Center, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands
    Cell Mol Life Sci 69:149-63. 2012
  7. ncbi request reprint Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity
    Saskia M M Jacobs
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
    Pediatr Res 59:365-70. 2006
  8. pmc Liver-specific Commd1 knockout mice are susceptible to hepatic copper accumulation
    Willianne I M Vonk
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, and Netherlands Metabolomics Center, Utrecht, The Netherlands
    PLoS ONE 6:e29183. 2011
  9. doi request reprint Monitoring bile acid transport in single living cells using a genetically encoded Förster resonance energy transfer sensor
    Lieke M van der Velden
    Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
    Hepatology 57:740-52. 2013
  10. pmc Cu,Zn superoxide dismutase maturation and activity are regulated by COMMD1
    Willianne I M Vonk
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, The Netherlands
    J Biol Chem 285:28991-9000. 2010

Collaborators

Detail Information

Publications39

  1. pmc Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency--a neurometabolic disorder associated with reduced L-serine biosynthesis
    L W Klomp
    Department of Metabolic Diseases, University Medical Center Utrecht, 3584 AE Utrecht, The Netherlands
    Am J Hum Genet 67:1389-99. 2000
    ....
  2. ncbi request reprint Control by signaling modulators of the sorting of canalicular transporters in rat hepatocyte couplets: role of the cytoskeleton
    M G Roma
    Institute of Experimental Physiology, CONICET University of Rosario, Argentina
    Hepatology 32:1342-56. 2000
    ..A second pathway is activated by DBcAMP activation via Ca(2+)-calmodulin formation, whose requirements with respect to cytoskeletal components are opposite. PKC has a negative regulatory role in both pathways...
  3. ncbi request reprint Characterization of mutations in ATP8B1 associated with hereditary cholestasis
    Leo W J Klomp
    Department of Metabolic and Endocrine Diseases, University Medical Center, Utrecht, The Netherlands
    Hepatology 40:27-38. 2004
    ..16% in BRIC). Some mutations, however, lead to a wide range of phenotypes, from PFIC to BRIC or even no clinical disease. ATP8B1 mutations were detected in 30% and 41%, respectively, of the PFIC and BRIC patients screened...
  4. pmc Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B
    Prim de Bie
    Laboratory of Metabolic and Endocrine Diseases, Division of Biomedical Genetics, Department of Medical Genetics, University Medical Center, Utrecht, The Netherlands
    Gastroenterology 133:1316-26. 2007
    ..ATP7B interacts with COMMD1, a protein that is deleted in Bedlington terriers with hereditary copper toxicosis. Here we characterized the implications of the interaction between COMMD1 and ATP7B in relation to the pathogenesis of WD...
  5. doi request reprint Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin
    Peter V E van den Berghe
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, and the Netherlands Metabolomics Center, Utrecht, The Netherlands
    Hepatology 50:1783-95. 2009
    ..Treatment with pharmacological chaperones 4-phenylbutyrate (4-PBA) and curcumin, a clinically approved compound, partially restored protein expression of most ATP7B mutants...
  6. pmc The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression
    Willianne I M Vonk
    Department of Metabolic and Endocrine Diseases, Netherlands Metabolomics Center, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands
    Cell Mol Life Sci 69:149-63. 2012
    ..Together, the presented data might provide a new direction for developing therapies to improve the residual exporting activity of unstable ATP7A mutant proteins, and suggests a potential role for COMMD1 in this process...
  7. ncbi request reprint Kidneys of mice with hereditary tyrosinemia type I are extremely sensitive to cytotoxicity
    Saskia M M Jacobs
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
    Pediatr Res 59:365-70. 2006
    ....
  8. pmc Liver-specific Commd1 knockout mice are susceptible to hepatic copper accumulation
    Willianne I M Vonk
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, and Netherlands Metabolomics Center, Utrecht, The Netherlands
    PLoS ONE 6:e29183. 2011
    ....
  9. doi request reprint Monitoring bile acid transport in single living cells using a genetically encoded Förster resonance energy transfer sensor
    Lieke M van der Velden
    Department of Metabolic Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
    Hepatology 57:740-52. 2013
    ....
  10. pmc Cu,Zn superoxide dismutase maturation and activity are regulated by COMMD1
    Willianne I M Vonk
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, The Netherlands
    J Biol Chem 285:28991-9000. 2010
    ..Here, we identify COMMD1 as a novel protein regulating SOD1 activation and associate COMMD1 function with the production of free radicals...
  11. doi request reprint Two mass-spectrometric techniques for quantifying serine enantiomers and glycine in cerebrospinal fluid: potential confounders and age-dependent ranges
    Sabine A Fuchs
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
    Clin Chem 54:1443-50. 2008
    ..Therefore, high-throughput analysis techniques are warranted to determine D-amino acids in biological fluids in a routine laboratory setting...
  12. doi request reprint Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate
    Lieke M van der Velden
    Department of Metabolic and Endocrine Diseases, University Medical Center UMC Utrecht, The Netherlands
    Hepatology 51:286-96. 2010
    ....
  13. ncbi request reprint Gene expression profiling of liver cells after copper overload in vivo and in vitro reveals new copper-regulated genes
    Patricia Muller
    Laboratory for Metabolic and Endocrine Diseases, University Medical Centre, Utrecht, The Netherlands
    J Biol Inorg Chem 12:495-507. 2007
    ..In conclusion, we identified a novel set of genes that represent a delayed response to copper overload, thus providing insight into the adaptive transcriptional response to copper-induced oxidative stress...
  14. pmc Increased concentrations of both NMDA receptor co-agonists D-serine and glycine in global ischemia: a potential novel treatment target for perinatal asphyxia
    Sabine A Fuchs
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Postbox 85090, 3508 AB, Utrecht, The Netherlands
    Amino Acids 43:355-63. 2012
    ..Influencing these NMDAr co-agonist concentrations provides an interesting treatment target for this common, devastating and currently poorly treatable condition...
  15. pmc Characterization of COMMD protein-protein interactions in NF-kappaB signalling
    Prim de Bie
    Laboratory of Metabolic and Endocrine Diseases, University Medical Center, Utrecht, 3584 EA, The Netherlands
    Biochem J 398:63-71. 2006
    ..Taken together, these data support the significance of COMMD protein-protein interactions and provide new mechanistic insight into the function of this protein family in NF-kappaB signalling...
  16. doi request reprint Cerebrospinal fluid D-serine and glycine concentrations are unaltered and unaffected by olanzapine therapy in male schizophrenic patients
    Sabine A Fuchs
    Department of Metabolic and Endocrine Diseases and Department of Biomedical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands
    Eur Neuropsychopharmacol 18:333-8. 2008
    ....
  17. pmc Human copper transporter 2 is localized in late endosomes and lysosomes and facilitates cellular copper uptake
    Peter V E van den Berghe
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands
    Biochem J 407:49-59. 2007
    ..This work suggests a role for endosomal and lysosomal copper pools in the maintenance of cellular copper homoeostasis...
  18. doi request reprint New developments in the regulation of intestinal copper absorption
    Peter V E van den Berghe
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands
    Nutr Rev 67:658-72. 2009
    ....
  19. ncbi request reprint Bile acids and their nuclear receptor FXR: Relevance for hepatobiliary and gastrointestinal disease
    Raffaella M Gadaleta
    Department of Gastroenterology and Hepatology, University Medical Center Utrecht, Utrecht, The Netherlands
    Biochim Biophys Acta 1801:683-92. 2010
    ..Given the availability of highly potent synthetic FXR agonists, we focus particularly on potential relevance for human disease...
  20. ncbi request reprint D-serine in the developing human central nervous system
    Sabine A Fuchs
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
    Ann Neurol 60:476-80. 2006
    ..In one patient treated prenatally, D-serine concentration was nearly normal at birth and the clinical phenotype was normal. These observations suggest a pivotal role for D-serine in normal and aberrant human brain development...
  21. doi request reprint Liver disease associated with canalicular transport defects: current and future therapies
    Janneke M Stapelbroek
    Department of Paediatric Gastroenterology, Wilhelmina Children s Hospital, University Medical Centre Utrecht, Utrecht, The Netherlands
    J Hepatol 52:258-71. 2010
    ..This review will focus on the therapy that is currently available as well as on those developments that are likely to influence clinical practice in the near future...
  22. pmc Heteromeric interactions required for abundance and subcellular localization of human CDC50 proteins and class 1 P4-ATPases
    Lieke M van der Velden
    Department of Metabolic and Endocrine Diseases, Universitair Medisch Centrum Utrecht, AB Utrecht, The Netherlands
    J Biol Chem 285:40088-96. 2010
    ..The interactions of CDC50A and CDC50B with multiple members of the human P(4)-ATPase family suggest that these proteins perform broader functions in human physiology than thus far assumed...
  23. ncbi request reprint Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis
    Janneke M Stapelbroek
    Department of Pediatric Gastroenterology, University Medical Center Utrecht, The Netherlands
    Hepatology 43:51-3. 2006
    ..In conclusion, we propose that temporary endoscopic nasobiliary drainage should be considered in cholestatic BRIC patients...
  24. pmc The Copper Metabolism MURR1 Domain Protein 1 (COMMD1) Modulates the Aggregation of Misfolded Protein Species in a Client-Specific Manner
    Willianne I M Vonk
    University Medical Center Utrecht, Department of Metabolic and Endocrine Diseases, and Netherlands Metabolomics Center, Utrecht, the Netherlands University Medical Center Utrecht, Complex Genetics Section, Utrecht, The Netherlands
    PLoS ONE 9:e92408. 2014
    ..Altogether, this study offers new research directions to expand our current knowledge on the mechanisms underlying aggregation disease pathologies. ..
  25. doi request reprint Posttranslational regulation of copper transporters
    Peter V E van den Berghe
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, The Netherlands
    J Biol Inorg Chem 15:37-46. 2010
    ..In this review we systematically discuss the contribution of these different mechanisms to the regulation of copper transport...
  26. doi request reprint Nuclear-cytosolic transport of COMMD1 regulates NF-kappaB and HIF-1 activity
    Patricia A J Muller
    Department of Metabolic and Endocrine Diseases, UMC Utrecht, Utrecht, The Netherlands
    Traffic 10:514-27. 2009
    ..In conclusion, these data indicate that COMMD1 undergoes constitutive nucleocytoplasmic transport as a novel mechanism to regulate NF-kappaB and HIF-1 signaling...
  27. ncbi request reprint The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis
    Janneke M Stapelbroek
    Department of Pediatric Gastroenterology, Wilhelmina Children s Hospital, University Medical Center, P O Box 85090, 3508 AB Utrecht, The Netherlands
    J Hepatol 41:758-63. 2004
    ..We examined whether H1069Q, the most common ATP7B mutation, is associated with a specific phenotype...
  28. ncbi request reprint 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
    Saskia W C van Mil
    Department of Pediatric Gastroenterology, University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands
    Pediatr Res 56:981-7. 2004
    ..We speculate that the developing bile salt pool in the maturing intestine accounts for the increase in Fic1 protein expression in this tissue...
  29. pmc D-serine influences synaptogenesis in a p19 cell model
    Sabine A Fuchs
    Department of Metabolic and Endocrine Diseases Department of Biomedical Genetics, University Medical Center Utrecht, 85090, 3508 AB, Utrecht, The Netherlands
    JIMD Rep 6:47-53. 2012
    ..In addition, this may provide a pathophysiological mechanism for a role of D-serine deficiency in psychiatric disorders...
  30. doi request reprint Biochemical and cellular functions of P4 ATPases
    Lieke M van der Velden
    Department of Metabolic and Endocrine Diseases, UMC Utrecht, and Netherlands Metabolomics Centre, Utrecht, 3508 AB, The Netherlands
    Biochem J 431:1-11. 2010
    ..In the present review, we outline the current knowledge of the biochemical and cellular functions of P4 ATPases in the eukaryotic membrane...
  31. ncbi request reprint Renal proximal tubular cells acquire resistance to cell death stimuli in mice with hereditary tyrosinemia type 1
    Marjanka C Luijerink
    Department of Metabolic Diseases, University Medical Center, Utrecht, The Netherlands
    Kidney Int 66:990-1000. 2004
    ..FAH knockout mice develop the HT1 phenotype when NTBC treatment is discontinued...
  32. pmc ATP8B1 is essential for maintaining normal hearing
    Janneke M Stapelbroek
    Department of Pediatric Gastroenterology, University Medical Center Utrecht, Utrecht, The Netherlands
    Proc Natl Acad Sci U S A 106:9709-14. 2009
    ..This indicates that the mechanosensory function and integrity of the cochlear hair cells is critically dependent on ATP8B1 activity, possibly through maintaining lipid asymmetry in the cellular membranes of stereocilia...
  33. ncbi request reprint D-amino acids in the central nervous system in health and disease
    Sabine A Fuchs
    Department of Metabolic and Endocrine Diseases, University Medical Center Utrecht, Utrecht, The Netherlands
    Mol Genet Metab 85:168-80. 2005
    ..Consequently, the presence and important roles of d-amino acids in higher organisms do not only challenge former theories on mammalian physiology, but also contribute to exciting new insights in human disease...
  34. ncbi request reprint Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11
    Saskia W C van Mil
    Department of Metabolic and Endocrine Diseases, University Medical Center, Utrecht, The Netherlands
    Gastroenterology 127:379-84. 2004
    ..We hypothesized that a genetically distinct form of BRIC is associated with mutations in ABCB11. This gene encodes the bile salt export pump (BSEP) and is mutated in PFIC type 2...
  35. ncbi request reprint Serine-deficiency syndromes
    Tom J de Koning
    Department of Metabolic Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands
    Curr Opin Neurol 17:197-204. 2004
    ..An overview of the patients with serine-deficiency disorders reported to date, the biochemical findings and the results of treatment with amino acids is presented...
  36. ncbi request reprint Molecular regulation of copper excretion in the liver
    Cisca Wijmenga
    Department of Biomedical Genetics, University Medical Center, Stratenum 2 117, Universiteitsweg 100, 3584 CG Utrecht, The Netherlands
    Proc Nutr Soc 63:31-9. 2004
    ....
  37. ncbi request reprint 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)
    Marjanka C Luijerink
    Department of Metabolic Diseases, Laboratory for Metabolic and Endocrine Diseases, room KC02 069 1, University Medical Center, Lundlaan 6, 3584 EA Utrecht, The Netherlands
    J Hepatol 39:901-9. 2003
    ..Administration of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC) corrects the tyrosinemia phenotype, but does not prevent development of hepatocellular carcinoma...
  38. ncbi request reprint Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum
    Nancy A M van Ooteghem
    Department of Gastroenterology, Gastrointestinal Research Unit, University Medical Center, PO Box 85500, 3508, Utrecht GA, The Netherlands
    J Hepatol 36:439-43. 2002
    ..In conclusion, the disease of these patients started with the clinical and histopathological characteristics of BRIC but progressed to PFIC...
  39. ncbi request reprint Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome
    Paul Gissen
    Section of Medical and Molecular Genetics, University of Birmingham, and Liver Unit, Birmingham Children s Hospital, UK
    Nat Genet 36:400-4. 2004
    ..VPS33B encodes a homolog of the class C yeast vacuolar protein sorting gene, Vps33, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion...