Search Results - "Klomp, LWJ"

Prenatal and early postnatal treatment in 3-phosphoglycerate-dehydrogenase deficiency by de Koning, TJ, Klomp, LWJ, van Oppen, ACC, Beemer, FA, Dorland, L, van den Berg, IET, Berger, R

“…3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor…”
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Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11 by van Mil, Saskia W C, van der Woerd, Wendy L, van der Brugge, Gerda, Sturm, Ekkehard, Jansen, Peter L M, Bull, Laura N, van den Berg, Inge E T, Berger, Ruud, Houwen, Roderick H J, Klomp, Leo W J

“…Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are hereditary liver disorders; PFIC is characterized…”
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d-Amino acids in the central nervous system in health and disease by Fuchs, Sabine A., Berger, Ruud, Klomp, Leo W.J., de Koning, Tom J.

“…Recent evidence has shown that d-amino acids are present in animals and humans in high concentrations and fulfill specific biological functions. In the central…”
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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome by Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A

“…ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular…”
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A novel role for XIAP in copper homeostasis through regulation of MURR1 by Burstein, Ezra, Ganesh, Lakshmanan, Dick, Robert D, van De Sluis, Bart, Wilkinson, John C, Klomp, Leo WJ, Wijmenga, Cisca, Brewer, George J, Nabel, Gary J, Duckett, Colin S

“…XIAP is a potent suppressor of apoptosis that directly inhibits specific members of the caspase family of cysteine proteases. Here we demonstrate a novel role…”
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Characterization of mutations in ATP8B1 associated with hereditary cholestasis by Klomp, Leo W. J., Vargas, Julie C., van Mil, Saskia W. C., Pawlikowska, Ludmila, Strautnieks, Sandra S., van Eijk, Michiel J. T., Juijn, Jenneke A., Pabón‐Peña, Carlos, Smith, Lauren B., DeYoung, Joseph A., Byrne, Jane A., Gombert, Justijn, van der Brugge, Gerda, Berger, Ruud, Jankowska, Irena, Pawlowska, Joanna, Villa, Erica, Knisely, A. S., Thompson, Richard J., Freimer, Nelson B., Houwen, Roderick H. J., Bull, Laura N.

“…Progressive familial intrahepatic cholestasis (PFIC) and benign recurrent intrahepatic cholestasis (BRIC) are clinically distinct hereditary disorders. PFIC…”
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Cisplatin Rapidly Down-regulates Its Own Influx Transporter hCTR1 in Cultured Human Ovarian Carcinoma Cells by HOLZER, Alison K, KATANO, Kuniyuki, KLOMP, Leo W. J, HOWELL, Stephen B

“…Purpose: Cisplatin (DDP)-resistant cells commonly exhibit reduced drug accumulation. Previous studies have shown that the major copper (Cu) influx transporter…”
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The gene product Murr1 restricts HIV-1 replication in resting CD4 + lymphocytes by Nabel, Gary J, Ganesh, Lakshmanan, Burstein, Ezra, Guha-Niyogi, Anuradha, Louder, Mark K, Mascola, John R, Klomp, Leo W. J, Wijmenga, Cisca, Duckett, Colin S

“…Although human immunodeficiency virus-1 (HIV-1) infects quiescent and proliferating CD4+ lymphocytes, the virus replicates poorly in resting T cells. Factors…”
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The ubiquitously expressed MURR1 protein is absent in canine copper toxicosis by Klomp, Adriana E.M, van de Sluis, Bart, Klomp, Leo W.J, Wijmenga, Cisca

“…Background/Aims: Copper toxicosis (CT) in Bedlington terriers is an autosomal recessive disorder characterized by massive lysosomal copper accumulation in…”
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The Copper Chaperone for Superoxide Dismutase by Culotta, Valeria Cizewski, Klomp, Leo W.J., Strain, Jeffrey, Casareno, Ruby Leah B., Krems, Bernhard, Gitlin, Jonathan D.

“…Copper is distributed to distinct localizations in the cell through diverse pathways. We demonstrate here that the delivery of copper to copper/zinc superoxide…”
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A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis by Bull, L N, van Eijk, M J, Pawlikowska, L, DeYoung, J A, Juijn, J A, Liao, M, Klomp, L W, Lomri, N, Berger, R, Scharschmidt, B F, Knisely, A S, Houwen, R H, Freimer, N B

“…Cholestasis, or impaired bile flow, is an important but poorly understood manifestation of liver disease. Two clinically distinct forms of inherited…”
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Biochemical characterization and subcellular localization of human copper transporter 1 (hCTR1) by Klomp, Adriana E M, Tops, Bastiaan B J, Van Denberg, Inge E T, Berger, Ruud, Klomp, Leo W J

“…The human copper transporter 1 gene (hCTR1) was previously identified by functional complementation in ctr1-deficient yeast. Overexpression of hCTR1 in…”
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Nasobiliary drainage induces long-lasting remission in benign recurrent intrahepatic cholestasis by STAPELBROEK, Janneke M, VAN ERPECUM, Karel J, KLOMP, Leo W. J, VENNEMAN, Niels G, SCHWARTZ, Thijs P, VAN BERGE HENEGOUWEN, Gerard P, DEVLIN, John, VAN NIEUWKERK, Carin M. J, KNISELY, A. S, HOUWEN, Roderick H. J

“…Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodic cholestasis and pruritus without anatomical obstruction. Effective medical…”
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Interaction of the Copper Chaperone HAH1 with the Wilson Disease Protein Is Essential for Copper Homeostasis by Hamza, Iqbal, Schaefer, Mark, Leo W. J. Klomp, Gitlin, Jonathan D.

“…The delivery of copper to specific sites within the cell is mediated by distinct intracellular carrier proteins termed copper chaperones. Previous studies in…”
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The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis by Stapelbroek, Janneke M., Bollen, Casper W., Ploos van Amstel, Johannes K., van Erpecum, Karel J., van Hattum, Jan, van den Berg, Leonard H., Klomp, Leo W.J., Houwen, Roderick H.J.

“…Wilson disease is an hereditary disorder of copper metabolism, caused by mutations in the ATP7B gene, and leading to hepatic or neurologic disease. We examined…”
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Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics by Tabatabaie, L, de Koning, T.J, Geboers, A.J.J.M, van den Berg, I.E.T, Berger, R, Klomp, L.W.J

“…Three-phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare recessive inborn error in the biosynthesis of the amino acid L-serine characterized…”
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Molecular regulation of copper excretion in the liver by Wijmenga, Cisca, Klomp, Leo W. J.

“…Cu is an essential nutrient that is required for a broad range of cellular and molecular processes. Mammals have efficient systems to control Cu homeostasis…”
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Serine-deficiency syndromes by de Koning, Tom J, Klomp, Leo W J

“…Serine-deficiency disorders comprise a new group of neurometabolic diseases and are caused by defects in the biosynthesis of the amino acid L-serine. In…”
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Copper-dependent protein–protein interactions studied by yeast two-hybrid analysis by van Dongen, Elisabeth M.W.M., Klomp, Leo W.J., Merkx, Maarten

“…An important step in copper homeostasis is delivery of copper to a specific P-type ATPase in the Golgi apparatus (Ccc2 in yeast, ATP7A and ATP7B in humans) by…”
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Role of transition metals in the pathogenesis of amyotrophic lateral sclerosis by Vonk, Willianne I M, Klomp, Leo W J

“…ALS (amyotrophic lateral sclerosis) is a devastating progressive neurodegenerative disorder resulting in selective degeneration of motor neurons in brain and…”
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