Search Results - "HOUTEN, S. M."

Altered Energetics of Exercise Explain Risk of Rhabdomyolysis in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency by Diekman, E F, Visser, G, Schmitz, J P J, Nievelstein, R A J, de Sain-van der Velden, M, Wardrop, M, Van der Pol, W L, Houten, S M, van Riel, N A W, Takken, T, Jeneson, J A L

“…Rhabdomyolysis is common in very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and other metabolic myopathies, but its pathogenic basis is poorly…”
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Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation by Houten, S M, Frenkel, J, Waterham, H R

“…Mevalonate kinase (MK) is an essential enzyme in the isoprenoid biosynthesis pathway which produces numerous biomolecules (isoprenoids) involved in a variety…”
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Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids by Houten, S. M, Chegary, M, te Brinke, H, Wijnen, W. J, Glatz, J. F. C, Luiken, J. J. F. P, Wijburg, F. A, Wanders, R. J. A

“…Organs are flexible as to which substrates they will use to maintain energy homeostasis. Under well-fed conditions, glucose is a preferred substrate for…”
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Mutations in MVK , encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome by Waterham, Hans R, Poll-The, Bwee Tien, Houten, Sander M, Kuis, Wietse, Duran, Marinus, de Koning, Tom J, van Royen-Kerkhof, Annet, Romeijn, Gerrit J, Frenkel, Joost, Dorland, Lambertus, de Barse, Martina M.J, Huijbers, Wim A.R, Rijkers, Ger T, Wanders, Ronald J.A

“…Hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS; MIM 260920) is an autosomal recessive disorder characterized by recurrent episodes of fever…”
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Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D by Frenkel, J., Houten, S. M., Waterham, H. R., Wanders, R. J. A., Rijkers, G. T., Duran, M., Kuijpers, T. W., van Luijk, W., Poll‐The, B. T., Kuis, W.

“…Objectives. The hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) was found recently to be caused by a deficiency of mevalonate kinase (MK). The…”
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Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept by ARKWRIGHT, P. D., MCDERMOTT, M. F., HOUTEN, S. M., FRENKEL, J., WATERHAM, H. R., AGANNA, E., HAMMOND, L. J., MIRAKIAN, R. M., TOMLIN, P. I., VIJAYDURAI, P. I., CANT, A. J.

“…Summary Hereditary periodic fever syndromes comprise a group of distinct disease entities linked by the defining feature of recurrent febrile episodes. Hyper…”
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Overexpression of PLIN5 in skeletal muscle promotes oxidative gene expression and intramyocellular lipid content without compromising insulin sensitivity by Bosma, M., Sparks, L.M., Hooiveld, G.J., Jorgensen, J.A., Houten, S.M., Schrauwen, P., Kersten, S., Hesselink, M.K.C.

“…Aims/hypothesis: While lipid deposition in the skeletal muscle is considered to be involved in obesity-associated insulin resistance, neutral intramyocellular…”
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Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis by Houten, S. M., Romeijn, G. J., Koster, J., Gray, R. G. F., Darbyshire, P., Smit, G. P. A., de Klerk, J. B. C., Duran, M., Gibson, K. M., Wanders, R. J. A., Waterham, H. R.

“…Mevalonic aciduria is a rare autosomal recessive metabolic disorder, characterized by psychomotor retardation, failure to thrive, hepatosplenomegaly, anemia…”
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Pioglitazone treatment restores in vivo muscle oxidative capacity in a rat model of diabetes by Wessels, B., Ciapaite, J., van den Broek, N. M. A., Houten, S. M., Nicolay, K., Prompers, J. J.

“…Aim To determine the effect of pioglitazone treatment on in vivo and ex vivo muscle mitochondrial function in a rat model of diabetes. Methods Both the lean,…”
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Mevalonate kinase deficiency and Dutch type periodic fever by FRENKEL, J, HOUTEN, S. M, WATERHAM, H. R, WANDERS, R. J. A, RIJKERS, G. T, KIMPEN, J. L. L, DURAN, R, POLL-THE, B. T, KUIS, W

“…Dutch type periodic fever (DPF) is an autosomal recessive hereditary fever syndrome. Cases have been reported worldwide, the majority from France and The…”
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Increased mitochondrial content rescues in vivo muscle oxidative capacity in long-term high-fat-diet-fed rats by van den Broek, N.M.A, Ciapaite, J, De Feyter, H.M.M.L, Houten, S.M, Wanders, R.J.A, Jeneson, J.A.L, Nicolay, K, Prompers, J.J

“…Mitochondria are thought to play a crucial role in the etiology of muscle insulin resistance (IR). The aim of this study was to gain more insight into the…”
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PGC-1 alpha Turbocharging mitochondria by Houten, S M, Auwerx, J

“…PGC-1 alpha plays essential and diverse functions in the control of metabolism ranging from mitochondrial biogenesis and respiration to hepatic gluconeogenesis…”
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Novel genotype of mevalonic aciduria with fatalities in premature siblings by Raupp, P, Varady, E, Duran, M, Wanders, R J A, Waterham, H R, Houten, S M

“…Mevalonic aciduria is described in two very low birthweight siblings with unspecific clinical signs and recurrent septicaemia. Both died within the first 2…”
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Molecular basis of classical mevalonic aciduria and the hyperimmunoglobulinaemia D and periodic fever syndrome: High frequency of 3 mutations in the mevalonate kinase gene by Houten, S. M., Frenkel, J., Kuis, W., Wanders, R. J. A., Poll‐The, B. T., Waterham, H. R.

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Compensation by the Muscle Limits the Metabolic Consequences of Lipodystrophy in PPARγ Hypomorphic Mice by Koutnikova, Hana, Cock, Terrie-Anne, Watanabe, Mitsuhiro, Houten, Sander M., Champy, Marie-France, Dierich, Andrée, Auwerx, Johan

“…Peroxisome proliferator-activated receptor$\gamma\>(PPAR\gamma)$is a nuclear receptor, which controls adipocyte differentiation. We targeted with homologous…”
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Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome by Poll‐The, B. T., Frenkel, J., Houten, S. M., Kuis, W., Duran, M., Koning, T. J., Dorland, L., Barse, M. M. J., Romeijn, G. J., Wanders, R. J. A., Waterham, H. R.

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Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in Hyper-IgD and periodic fever syndrome by Houten, Sander M., Frenkel, Joost, Rijkers, Ger T., Wanders, Ronald J.A., Kuis, Wietse, Waterham, Hans R.

“…Hyper-IgD and periodic fever syndrome (HIDS) and mevalonic aciduria are autosomal recessive disorders characterized by recurrent episodes of fever and…”
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Biochemical and genetic aspects of mevalonate kinase and its deficiency by Houten, Sander M, Wanders, Ronald J.A, Waterham, Hans R

“…Mevalonate kinase (MK) is an essential enzyme in the mevalonate pathway which produces numerous cellular isoprenoids. The enzyme has been characterized both at…”
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Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome by Houten, S M, Koster, J, Romeijn, G J, Frenkel, J, Di Rocco, M, Caruso, U, Landrieu, P, Kelley, R I, Kuis, W, Poll-The, B T, Gibson, K M, Wanders, R J, Waterham, H R

“…Mevalonic aciduria (MA) and hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS) are two autosomal recessive inherited disorders both caused by a…”
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Nonorthologous Gene Displacement of Phosphomevalonate Kinase by Houten, Sander M, Waterham, Hans R

“…Phosphomevalonate kinase (PMK; EC 2.7.4.2) catalyzes the phosphorylation of 5-phosphomevalonate into 5-diphosphomevalonate, an essential step in isoprenoid…”
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