Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

 Department of Clinical Medicine MMF Publications

Publications

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Olsen RKJ, Pourfarzam M, Morris AAM, Dias RC, Knudsen I, Andresen BS, Gregersen N, Olpin SE. 2004. Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. Journal of Inherited Metabolic Disease. 27(5):671-8.
Damgaard D, Jensen JM, Larsen ML, Sørensen VR, Jensen HK, Gregersen N, Jensen LG, Færgeman O. 2004. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenetic mutations in the LDL receptor and apoB genes. Atherosclerosis. 177(2):415-422.
Damgaard D, Jensen JM, Larsen ML, Soerensen VR, Jensen HK, Gregersen N, Jensen LG, Faergeman O. 2004. No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a sample of Danish families without pathogenic mutations in the LDLreceptor and apoB genes. Atherosclerosis. (177):415-415.
Gregersen N, Bross P & Jørgensen MM. 2004. Protein folding and misfolding: The role of cellular protein quality control systems in inherited disorders. In The Metabolic and Molecular Bases of Inherited Disease. In Protein folding and misfolding. (Scriver,C.R., Beaudet,A.L., Sly,W.S.,. pp. Århus Amts Trykkeri.
Bross P, Andresen BS, Corydon TJ, Gregersen N. 2004. Protein Misfolding and degradation in genetic diseases. In In Encyclopedia of the Human genome (Cooper,D.N.,ed),pp.97 - 121. Macmillan Publishers. pp. Århus Amts Trykkeri.
Bross P, Rugarli EI, Casari G, Langer T. 2004. Protein Quality control in mitochondria and neurodegeneration in hereditary spastic paraplegia. In Topics in Current Genetics: Mitochondrial Function and Biogenesis. Heidelberg: Springer LNCS. pp. 97-121.
Pedersen CB, Gregersen N. 2004. SCAD-mangel - en alvorlig defekt i cellernes fedtsyreforbrænding. AUH Forskning og Klinik. 4(1):30-31.
Nielsen KB, Sinnathamby T, Cartegni L, Corydon TJ, Kjems J, Krainer AR, Elpeleg O, Gregersen N, Andresen BS. 2003.  A missense mutation found in patients with MCAD deficiency inactivates an exonic splicing enhancer in the MCAD gene. Poster session presented at Annual Meeting of the RNA society, Wien.
Christensen JH, Siggaard C, Rittig S. 2003. Autosomal dominant familial neurohypophyseal diabetes insipidus. APMIS Suppl. 109. 111:92-95.
Bross P, Gregersen N, Bross P, Gregersen N, ed. 2003. Basic introduction to in vivo protein folding and its defects. In Protein misfolding and disease. New Jersey: Humana Press. pp. 17-26.
Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. 2003. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Human Mutation. (22):12-23.
Olsen RKJ, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. 2003. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Human Mutation. 22(1):12-23. https://doi.org/10.1002/humu.10226
Gregersen N, Bross P, Bolund LA. 2003. Conformational diseases. Ugeskrift for Læger. (165):801-805.
Bross P, Winter V, Pedersen CB, Gregersen N, Bross P, Gregersen N, ed. 2003. Investigation of folding and degradation of in vitro synthesized mutant proteins in mitochondria. In Protein misfolding and disease. New Jersey: Humana Press. pp. 285-294.
Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N. 2003. Late-onset form of beta-electron transfer flavoprotein deficiency. Mol. Genet. Metab. (78):247-249.
Curcoy A, Olsen RKJ, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N. 2003. Late-onset form of beta-electron transfer flavoprotein deficiency. Molecular Genetics and Metabolism. 78(4):247-9.
Pedersen CB, Bross P, Winter VS, Corydon TJ, Bolund L, Bartlett K, Vockley J, Gregersen N. 2003. Misfolding, degradation, and aggregation of variant proteins. The molecular pathogenesis of short chain acyl-CoA dehydrogenase (SCAD) deficiency. Journal of Biological Chemistry. 278(48):47449-47458.
Pedersen CB, Stenbroen Winter V, Gregersen N. 2003.  Ny metode afslører om genetiske fejl kan være sygdomsrelaterede. AUH. 3(1):29.
Bross P, Gregersen N, ed. 2003. Protein misfolding and disease: Principles and Protocols. New Jersey: Humana Press.
Jorgensen MM, Bross P, Gregersen N. 2003. Protein quality control in the endoplasmic reticulum. APMIS Suppl. 86-91.
Koeberl DD, Young SP, Gregersen N, Vockley J, Smith WE, Benjamin DK, Jr., An Y, Weavil SD, Chaing SH, et al. 2003. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr. Res. (54):219-223.
Seidel J, Streck S, Bellstedt K, Vianey-Saban C, Pedersen CB, Vockley J, Korall H, Roskos M, Deufel T, Trefz FK, et al. 2003. Recurrent vomiting and ethylmalonic aciduria associated with rare mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene. J. Inher. Metab. Dis. 26(1):37-42.
Bok LA, Vreken P, Wijburg FA, Wanders RJ, Gregersen N, Corydon MJ, Waterham HR, Duran M. 2003. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder. Audio-Digest Pediatrics. (112):1152-1155.
Terp BN, Cooper DN, Christensen IT, Jorgensen FS, Bross P, Gregersen N, Krawczak M. 2002. Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease. Human Mutation. (20):98-109.
Rittig S, Siggaard C, Ozata M, Yetkin I, Gregersen N, Pedersen EB, Robertson GL. 2002. Autosomal Dominant Neurohypophyseal Diabetes Insipidus due to Substitution of Histidine for Tyrosine(2) in the Vasopressin Moiety of the Hormone Precursor. Journal of Clinical Endocrinology and Metabolism. (87):3351-3355.
Hansen JJ, Bross P, Westergaard M, Nielsen MN, Eiberg H, Børglum A, Mogensen J, Kristiansen K, Bolund L, Gregersen N. 2002. Genomic structure of the human mitochondrial chaperonin genes: HSP60 and HSP10 are localised head to head on chromosome 2 separated by a bidirectional promoter. Human Genetics. 112(1):71-7. https://doi.org/10.1007/s00439-002-0837-9
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(159 (suppl 3)):213-218.
Stålberg E, Fuglsang-Frederiksen A, Bischoff C. 2000. Quantitation and standardization in EMG and neurography. In Clinical Neurophysiology at the Beginning of the 21st Century. Elsevier. pp. 101-11. ( Clinical Neurophysiology. Supplement, Vol. 53). https://doi.org/10.1016/s1567-424x(09)70144-8
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

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Revised 11.09.2025
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Helle Just