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Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

Publications

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Hansen JJ, Durr A, Cournu-Rebeix I, Georgopoulos C, Ang D, Nielsen MN, Davoine CS, Brice A, Fontaine B, Gregersen N, et al. 2002. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. American Journal of Human Genetics. (70):1328-1332.

Birkebaek NH, Simonsen H, Gregersen N. 2002. Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation. Acta Paediatrica. 91(4):480-2.

Brorholt-Petersen JU, Jensen HK , Jensen JM , Refsgaard J, Christiansen T, Hansen LB, Gregersen N , Faergeman O. 2002. LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolaemia. Clin. Genet. 61(6):408-15. https://doi.org/10.1034/j.1399-0004.2002.610603.x

Brorholt-Petersen JU, Jensen HK, Jensen JM, Refsgaard J, Christiansen T, Hansen LB, Gregersen N , Færgeman O. 2002. LDL receptor mutation genotype and vascular disease phenotype in heterozygous familial hypercholesterolemia. Clin. Genet. 61:408-415.

Nguyen TV, Riggs C, Babovic-Vuksanovic D, Kim YS, Carpenter JF, Burghardt TP, Gregersen N, Vockley J. 2002. Purification and Characterization of Two Polymorphic Variants of Short Chain Acyl-CoA Dehydrogenase Reveal Reduction of Catalytic Activity and Stability of the Gly185Ser Enzyme. Biochem. (41):11126-11133.

Mogensen J, Andersen PS, Steffensen U, Christiansen M, Egeblad H , Gregersen N , Børglum AD. 2001. Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. Journal of Medical Genetics. 38(3):193-8.

Mogensen J, Andersen PS, Steffensen U, Christiansen M, Egeblad H , Gregersen N, Børglum AD. 2001. Development and application on linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy. Journal of Medical Genetics. 38(3):193-198.

Kristensen T , Vang S, Laustsen PG, Hald S, Reinholdt H, Pugdahl K, Pedraza-Diaz S, Hardre R, Carrion AG, Rasmussen TE. 2001. Insulin-regulated aminopeptidase (EC 3.4.11.3), a gluzincin aminopeptidase. Excerpta Medica. 1218:275-282.

Brorholt-Petersen JU, Jensen HK , Raungaard B , Gregersen N , Færgeman O. 2001. LDL-receptor gene mutations and the hypocholesterolemic response to statin therapy. Clin. Genet. 59:397-405.

Laustsen PG, Vang S , Kristensen T. 2001. Mutational analysis of the active site of human insulin-regulated aminopeptidase. FEBS journal. 268:98-104.

Gregersen N , Andresen BS , Corydon MJ , Corydon TJ , Olsen RKJ , Bolund L , Bross P. 2001. Mutation analysis in mitochondrial fatty acid oxidation defects: Exemplified by acyl-CoA dehydrogenase deficiencies, with special focus on genotype-phenotype relationship. Human Mutation. 18(3):169-89. https://doi.org/10.1002/humu.1174

Gregersen N , Bross PG , Andresen BS , Pedersen CB , Corydon TJ , Bolund L. 2001. The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders. Journal of Inherited Metabolic Disease. 24(2):189.

Møller J, Nielsen GM, Tvedegaard KC , Andersen NT, Jørgensen PE. 2000. A meta-analysis of cerebrovascular disease and hyperhomocysteinaemia. Scandinavian Journal of Clinical & Laboratory Investigation. 60(6):491-499.

Andresen BS , Corydon TJ, Wilsbech M, Bross P , Hindkjaer TF , Bolund L , Gregersen N, Schroeder LD. 2000. Characterization of mouse Clpp protease cDNA, gene, and protein. Mammalian Genome. 11(4):275-80.

Gregersen N , Bross P , Jørgensen MM , Corydon TJ , Andresen BS. 2000. Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders. Journal of Inherited Metabolic Disease. 23(5):441-7.

Christensen LL , Bross PG , Ørntoft TF. 2000. Glycosylation of the N-terminal potential N-glycosylation sites in the human α1,3-fucosyltransferase V and -VI (hFucTV and -VI). Glycoconjugate Journal. 17(12):859-865. https://doi.org/10.1023/A:1010917229243

Jørgensen MM, Jensen ON, Holst HU , Hansen JJ , Corydon TJ , Bross P , Bolund L , Gregersen N. 2000. Grp78 is involved in retention of mutant low density lipoprotein receptor protein in the endoplasmic reticulum. Journal of Biological Chemistry. 275(43):33861-8. https://doi.org/10.1074/jbc.M004663200

Corydon TJ, Wilsbech M, Jespersgaard C, Andresen BS, Borglum AD, Pedersen S, Bolund L , Gregersen N , Bross P. 2000. Human and mouse mitochondrial orthologs of bacterial ClpX. Mammalian Genome. 11(10):899-905.

Andresen BS, Christensen E, Corydon TJ , Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, et al. 2000. 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. American Journal of Human Genetics. 67(5):1095-103. https://doi.org/10.1086/303105

Laustsen PG, Vang S , Kristensen T. 2000. Mutational analysis of the active site of human oxytocinase/insulin-regulated aminopeptidase. In Conference Abstract. pp. 82-82.

Gregersen N , Andresen BS , Bross P. 2000. Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations. European Journal of Pediatrics. 159 Suppl 3:S213-8.

Christensen LL , Jensen UB , Bross PG , Ørntoft TF. 2000. The C-terminal N-glycosylation sites of the human α1,3/4-fucosyltransferase III, -V and -VI (hFucTIII, -V and -VI) are necessary for the expression of full enzyme activity. Glycobiology. 10(9):931-939.

Mogensen J, Klausen IC, Pedersen AK, Egeblad H , Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD. 1999. Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy. Journal of Clinical Investigation. 103(10):R39-43. https://doi.org/10.1172/JCI6460

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.

Displaying results 401 to 438 out of 438

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Revised 10.01.2025

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