Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

 Department of Clinical Medicine MMF Publications

Publications

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Bross P, Pedersen P, Nyholm M, Johansen BN, Olsen RKJ, Corydon MJ, Andresen BS, Eiberg H, Kolvraa S, Gregersen N. 1999. A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation. Molecular Genetics and Metabolism. 67(2):138-47. https://doi.org/10.1006/mgme.1999.2856
Udvari S, Bross P, Andresen BS, Gregersen N, Engel PC. 1999. Biochemical characterisation of mutations of human medium-chain acyl-CoA dehydrogenase. Advances in Experimental Medicine and Biology. 466:387-93.
Küchler B, Abdel-Ghany AG, Bross P, Nandy A, Rasched I, Ghisla S. 1999. Biochemical characterization of a variant human medium-chain acyl-CoA dehydrogenase with a disease-associated mutation localized in the active site. Biochemical Journal. 337 ( Pt 2):225-30.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, et al. 1999. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. American Journal of Human Genetics. 64(2):479-94. https://doi.org/10.1086/302261
Jensen HK, Jensen LG, Holst HU, Andreasen PH, Hansen PS, Kølvraa S, Larsen ML, Bolund L, Gregersen N, Færgeman O. 1999. Normolipidemia and familial hypercholesterolemia in persons heterozygous for the same splice mutation (1592+5G→A) in the LDL receptor gene. Clin Genetics. (56):378-388.
Bross P, Corydon TJ, Andresen BS, Jørgensen MM, Bolund L, Gregersen N. 1999. Protein misfolding and degradation in genetic diseases. Human Mutation. 14(3):186-98. https://doi.org/10.1002/(SICI)1098-1004(1999)14:3<186::AID-HUMU2>3.0.CO;2-J
Jensen HK, Jensen JG, Meinertz H, Hansen PS, Gregersen N, Færgeman O. 1999. Spectrum of LDL receptor mutations in Denmark: implications for molecular genetic strategy in heterozygous familial hypercholesterolemia. Atherosclerosis. (146):337-344.
Udvari S, Bross P, Andresen BS, Gregersen N, Engel PC. 1998. Mutations of human medium-chian acyl-CoA dehydrogenase. Biochemical Society. Transactions. 26(1):S65.
Thøgersen VB, Bross P, Gregersen N, Nexø E. 1998. Quantitative analysis of the human epidermal growth factor receptor messenger RNA using reverse transcription-PCR: a methodological study of imprecision. Clinical Chemistry. 44(6 Pt 1):1344-6.
Corydon TJ, Bross P, Jensen TG, Corydon MJ, Lund TB, Jensen UB, Kim JJ, Gregersen N, Bolund L. 1998. Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria. Journal of Biological Chemistry. 273(21):13065-71.
Orntoft TF, Vestergaard EM, Holmes E, Jakobsen JS, Grunnet N, Mortensen M, Johnson P, Bross P, Gregersen N, Andresen KS, et al. 1996. Influence of Lewis alpha1-3/4-L-fucosyltransferase (FUT3) gene mutations on enzyme activity, erythrocyte phenotyping, and circulating tumor marker sialyl-Lewis a levels. Journal of Biological Chemistry. 271(50):32260-8.
Jensen TG, Andresen BS, Jensen HK, Jensen LG, Heath F, Pedersen S, Nielsen V, Jensen UB, Lund TB, Gregersen N, et al. 1996. Rapid characterization of disease-causing mutations in the low density lipoprotein receptor (LDL-R) gene by overexpression in COS cells. Zeitschrift fuer Gastroenterologie. 34 Suppl 3:9-11.
Jensen TG, Bross P, Andresen BS, Lund TB, Kristensen TJ, Jensen UB, Jensen UB, Winther V, Kølvraa S, Gregersen N, et al. 1995. Comparison between medium-chain acyl-CoA dehydrogenase mutant proteins overexpressed in bacterial and mammalian cells. Human Mutation. 6(3):226-31. https://doi.org/10.1002/humu.1380060305
Andresen BS, Bross P, Jensen TG, Winter V, Knudsen I, Kølvraa S, Jensen UB, Bolund L, Duran M, Kim JJ. 1993. 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). American Journal of Human Genetics. 53(3):730-9.
Jensen TG, Andresen BS, Bross P, Jensen UB, Holme E, Kølvraa S, Gregersen N, Bolund L. 1992. Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells. BBA General Subjects. 1180(1):65-72.

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Revised 11.09.2025
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Helle Just