Handling of human short-chain acyl-CoA dehydrogenase (SCAD) variant proteins in transgenic mice
Kragh, Peter M., Pedersen, Christina B., Schmidt, Stinne P., Winter, Vibeke S., Vajta, Gábor, Gregersen, Niels, Bolund, Lars, Corydon, Thomas J.
Published in Molecular genetics and metabolism (01.06.2007)
Published in Molecular genetics and metabolism (01.06.2007)
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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
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
Published in European journal of biochemistry (01.10.2004)
Published in European journal of biochemistry (01.10.2004)
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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
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
Published in The Journal of biological chemistry (28.04.1995)
Published in The Journal of biological chemistry (28.04.1995)
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Misfolding, Degradation, and Aggregation of Variant Proteins
Pedersen, Christina Bak, Bross, Peter, Winter, Vibeke Stenbroen, Corydon, Thomas Juhl, Bolund, Lars, Bartlett, Kim, Vockley, Jerry, Gregersen, Niels
Published in The Journal of biological chemistry (01.11.2003)
Published in The Journal of biological chemistry (01.11.2003)
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Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency
Pedersen, Christina Bak, Bross, Peter, Winter, Vibeke Stenbroen, Corydon, Thomas Juhl, Bolund, Lars, Bartlett, Kim, Vockley, Jerry, Gregersen, Niels
Published in The Journal of biological chemistry (28.11.2003)
Published in The Journal of biological chemistry (28.11.2003)
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Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency
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
Published in American journal of human genetics (01.02.1999)
Published in American journal of human genetics (01.02.1999)
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Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency
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
Published in Pediatric research (2001)
Published in Pediatric research (2001)
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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
Gregersen, N, Andresen, B S, Bross, P, Winter, V, Rüdiger, N, Engst, S, Christensen, E, Kelly, D, Strauss, A W, Kølvraa, S
Published in Human genetics (01.04.1991)
Published in Human genetics (01.04.1991)
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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
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
Published in Human molecular genetics (01.04.1998)
Published in Human molecular genetics (01.04.1998)
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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
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
Published in American journal of human genetics (01.11.2000)
Published in American journal of human genetics (01.11.2000)
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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?
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
Published in Human molecular genetics (01.05.1997)
Published in Human molecular genetics (01.05.1997)
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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
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
Published in Pediatric research (01.02.1997)
Published in Pediatric research (01.02.1997)
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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
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
Published in Molecular genetics and metabolism (01.06.1999)
Published in Molecular genetics and metabolism (01.06.1999)
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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
Gregersen, Niels, Blakemore, Alexandra I.F., Winter, Vibeke, Andresen, Brage, Kølvraa, Steen, Bolund, Lars, Curtis, Diana, Engel, Paul C.
Published in Clinica chimica acta (09.11.1991)
Published in Clinica chimica acta (09.11.1991)
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Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene
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
Published in American journal of human genetics (01.06.1994)
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Published in American journal of human genetics (01.06.1994)
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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
Gregersen, N, Winter, V, Curtis, D, Deufel, T, Mack, M, Hendrickx, J, Willems, P J, Ponzone, A, Parrella, T, Ponzone, R
Published in Human heredity (01.11.1993)
Published in Human heredity (01.11.1993)
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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)
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
Published in American journal of human genetics (01.09.1993)
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Published in American journal of human genetics (01.09.1993)
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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
Gregersen, N, Winter, V, Jensen, P K, Holmskov, A, Kølvraa, S, Andresen, B S, Christensen, E, Bross, P, Lundemose, J B, Gregersen, M
Published in Prenatal diagnosis (01.01.1995)
Published in Prenatal diagnosis (01.01.1995)
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