Search Results - "Winter, Vibeke"

Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice by Kragh, Peter M., Pedersen, Christina B., Schmidt, Stinne P., Winter, Vibeke S., Vajta, Gábor, Gregersen, Niels, Bolund, Lars, Corydon, Thomas J.

“…To investigate the in vivo handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins, three transgenic mouse lines were produced by…”
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The Y42H mutation in medium‐chain acyl‐CoA dehydrogenase, which is prevalent in babies identified by MS/MS‐based newborn screening, is temperature sensitive by O'Reilly, Linda, Bross, Peter, Corydon, Thomas J., Olpin, Simon E., Hansen, Jakob, Kenney, John M., McCandless, Shawn E., Frazier, Dianne M., Winter, Vibeke, Gregersen, Niels, Engel, Paul C, Storstein Andresen, Brage

“…Medium‐chain acyl‐CoA dehydrogenase (MCAD) is a homotetrameric flavoprotein which catalyses the initial step of the β‐oxidation of medium‐chain fatty acids…”
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Effects of Two Mutations Detected in Medium Chain Acyl-CoA Dehydrogenase (MCAD)-deficient Patients on Folding, Oligomer Assembly, and Stability of MCAD Enzyme by Bross, Peter, Jespersen, Charlotte, Jensen, Thomas G., Andresen, Brage S., Kristensen, Morten Juhl, Winter, Vibeke, Nandy, Andreas, Kräutle, Franz, Ghisla, Sandro, Bolund, Lars, Kim, Jung-Ja P., Gregersen, Niels

“…We have used expression of human medium chain acyl-CoA dehydrogenase (MCAD) in Escherichia coli as a model system for dissecting the molecular effects of two…”
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Misfolding, Degradation, and Aggregation of Variant Proteins by Pedersen, Christina Bak, Bross, Peter, Winter, Vibeke Stenbroen, Corydon, Thomas Juhl, Bolund, Lars, Bartlett, Kim, Vockley, Jerry, Gregersen, Niels

“…Short chain acyl-CoA dehydrogenase (SCAD) deficiency is an inborn error of the mitochondrial fatty acid metabolism caused by rare variations as well as common…”
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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency by Andresen, Brage Storstein, Olpin, Simon, Poorthuis, Ben J.H.M., Scholte, Hans R., Vianey-Saban, Christine, Wanders, Ronald, Ijlst, Lodewijk, Morris, Andrew, Pourfarzam, Morteza, Bartlett, Kim, Baumgartner, E. Regula, deKlerk, Johannis B.C., Schroeder, Lisbeth Dahl, Corydon, Thomas J., Lund, Hans, Winter, Vibeke, Bross, Peter, Bolund, Lars, Gregersen, Niels

“…Very–long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial rate-limiting step in mitochondrial fatty acid β-oxidation. VLCAD deficiency is clinically…”
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Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency by Pedersen, Christina Bak, Bross, Peter, Winter, Vibeke Stenbroen, Corydon, Thomas Juhl, Bolund, Lars, Bartlett, Kim, Vockley, Jerry, Gregersen, Niels

“…Short chain acyl-CoA dehydrogenase (SCAD) deficiency is an inborn error of the mitochondrial fatty acid metabolism caused by rare variations as well as common…”
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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency by CORYDON, Morten Juhl, VOCKLEY, Jerry, LEVY, Harvey, SEWELL, Adrian Clive, ROE, Charles, MATERN, Dietrich, DASOUKI, Majed, GREGERSEN, Niels, RINALDO, Piero, RHEAD, William James, KJELDSEN, Margrethe, WINTER, Vibeke, RIGGS, Charles, BABOVIC-VUKSANOVIC, Dusica, SMEITINK, Jan, DE JONG, Jan

“…ABSTRACT Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is considered a rare inherited mitochondrial fatty acid oxidation disorder. Less than 10 patients…”
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Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency : identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli by GREGERSEN, N, ANDRESEN, B. S, BOLUND, L, GHISLA, S, BROSS, P, WINTER, V, RÜDIGER, N, ENGST, S, CHRISTENSEN, E, KELLY, D, STRAUSS, A. W, KØLVRAA, S

“…A series of experiments has established the molecular defect in the medium-chain acyl-coenzyme A (CoA) dehydrogenase (MCAD) gene in a family with MCAD…”
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Investigation of folding and degradation of in vitro synthesized mutant proteins in mitochondria by Bross, Peter, Winter, Vibeke, Pedersen, Christina Bak, Gregersen, Niels

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Isolated 2-Methylbutyrylglycinuria Caused by Short/Branched-Chain Acyl-CoA Dehydrogenase Deficiency: Identification of a New Enzyme Defect, Resolution of Its Molecular Basis, and Evidence for Distinct Acyl-CoA Dehydrogenases in Isoleucine And Valine Metabolism by Andresen, Brage Storstein, Christensen, Ernst, Corydon, Thomas J., Bross, Peter, Pilgaard, Bente, Wanders, Ronald J.A., Ruiter, Jos P.N., Simonsen, Henrik, Winter, Vibeke, Knudsen, Inga, Schroeder, Lisbeth Dahl, Gregersen, Niels, Skovby, Flemming

“…Acyl-CoA dehydrogenase (ACAD) defects in isoleucine and valine catabolism have been proposed in clinically diverse patients with an abnormal pattern of…”
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Identification of Four New Mutations in the Short-Chain Acyl-CoA Dehydrogenase (SCAD) Gene in Two Patients: One of the Variant Alleles, 511C→T, is Present at an Unexpectedly High Frequency in the General Population, as Was the Case for 625G→A, Together Conferring Susceptibility to Ethylmalonic Aciduria by Gregersen, Niels, Winter, Vibeke S., Corydon, Morten J., Corydon, Thomas J., Rinaldo, Piero, Ribes, Antonia, Bennett, Michael J., Vianey-Saban, Christine, Bhala, Ajay, Hale, Daniel E., Lehnert, Willy, Kmoch, Stanislav, Roig, Manel, Riudor, Encamaclo, Eiberg, Hans, Andresen, Brage S., Bross, Peter, Bolund, Lars A., Kølvraa, Steen

“…We have shown previously that a variant allele of the short-chain acyl-CoA dehydrogenase (SCAD) gene, 625G→A, is present in homozygous form in 7% of control…”
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The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype? by Andresen, Brage Storstein, Bross, Peter, Udvari, Szabolcs, Kirk, Jean, Gray, George, Kmoch, Stanislav, Chamoles, Nestor, Knudsen, Inga, Winter, Vibeke, Wilcken, Bridget, Yokota, Ichiro, Hart, Kimberly, Packman, Seymour, Harpey, Jean Paul, Saudubray, Jean Marie, Hale, Daniel E., Bolund, Lars, Kølvraa, Steen, Gregersen, Niels

“…Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most commonly recognized defect of mitochondrial β-oxidation. It is potentially fatal, but shows a…”
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A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain acyl-CoA dehydrogenase gene locus : Clinical and evolutionary consideration by TANAKA, K, GREGERSEN, N, SANTER, R, FRANCOIS, B, PRONICKA, E, LASZLO, A, KMOCH, S, KREMENSKY, I, KALAYDJICVA, L, OZALP, I, ITO, M, RIBES, A, KIM, J, KØLVRAA, S, WINTER, V, EIBERG, H, MARTINEZ, G, DEUFEL, T, LEIFERT, B

“…Medium chain acyl-CoA dehydrogenase (MCAD) deficiency is an inborn error of fatty acid metabolism. It is one of the most frequent genetic metabolic disorders…”
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A Polymorphic Variant in the Human Electron Transfer Flavoprotein α-Chain (α-T171) Displays Decreased Thermal Stability and Is Overrepresented in Very-Long-Chain acyl-CoA Dehydrogenase-Deficient Patients with Mild Childhood Presentation by Bross, Peter, Pedersen, Palle, Winter, Vibeke, Nyholm, Marit, Johansen, Bent Nagstrup, Olsen, Rikke K.J., Corydon, Morten J., Andresen, Brage S., Eiberg, Hans, Kølvraa, Steen, Gregersen, Niels

“…The consequences of two amino acid polymorphisms of human electron transfer flavoprotein (α-T/I171 in the α-subunit and β-M/T154 in the β-subunit) on the…”
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Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene by Gregersen, N, Blakemore, A I, Winter, V, Andresen, B, Kølvraa, S, Bolund, L, Curtis, D, Engel, P C

“…The discovery of a point-mutation, adenine-to-guanine, at position 985 in the gene coding for MCAD (G985), gave the basis for an easy and specific polymerase…”
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Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene by Andresen, B S, Jensen, T G, Bross, P, Knudsen, I, Winter, V, Kølvraa, S, Bolund, L, Ding, J H, Chen, Y T, Van Hove, J L

“…Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most commonly recognized defect of the mitochondrial beta-oxidation in humans. It is a potentially…”
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Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe by Gregersen, N, Winter, V, Curtis, D, Deufel, T, Mack, M, Hendrickx, J, Willems, P J, Ponzone, A, Parrella, T, Ponzone, R

“…Medium-chain acyl CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited defect of fatty acid beta-oxidation. Approximately 90% of the…”
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A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD) by ANDRESEN, B. S, BROSS, P, CURTIS, D, DIVRY, P, VIANEY-SABAN, C, GREGERSEN, N, JENSEN, T. G, WINTER, V, KNUDSEN, I, KØLVRAA, S, JENSEN, U. B, BOLUND, L, DURAN, M, JUNG-JA KIM

“…Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a serious and potentially fatal inherited defect in the beta-oxidation of fatty acids. Approximately…”
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A Survey of the Newborn Populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 Variant Allele with Haplotype Analysis at the Medium Chain Acyl-CoA by Tanaka, Kay, Gregersen, Niels, Ribes, Antonia, Kim, Julie, Kølvraa, Steen, Winter, Vibeke, Eiberg, Hans, Martinez, Gemma, Deufel, Thomas, Leifert, Barbara, Santer, Rene, Francois, Baudouin, Pronicka, Ewa, Laszló, Aranka, Kmoch, Stanislav, Kremensky, Ivo, Kalaydjicva, Luba, Ozalp, Imran, Ito, Michinori

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Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood by Gregersen, N, Winter, V, Jensen, P K, Holmskov, A, Kølvraa, S, Andresen, B S, Christensen, E, Bross, P, Lundemose, J B, Gregersen, M

“…Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most…”
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