Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

 Department of Clinical Medicine MMF Publications

Publications

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Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, Marsden D. 2008. Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms. Molecular Genetics and Metabolism. 95(1-2):39-45. https://doi.org/10.1016/j.ymgme.2008.06.002
Rohde MC, Schmidt S, Corydon TJ, Banner J, Gregersen N. 2008. Stress Response Profiles after Hyperthermic Exposure in Cases of Sudden Infant Death. Abstract from Annual Meeting in Translational Medicine, Aarhus University, Aarhus, Denmark.
Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, et al. 2008. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Human Genetics. 124(1):43-56. https://doi.org/10.1007/s00439-008-0521-9
Bross P, Naundrup S, Hansen J, Nielsen MN, Christensen JH, Kruhøffer M, Palmfeldt J, Corydon TJ, Gregersen N, Ang D, et al. 2008. The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. Journal of Biological Chemistry. 283(23):15694-700. https://doi.org/10.1074/jbc.M800548200
Hansen J, Svenstrup K, Ang D, Nyholm M, Christensen JH, Gregersen N, E. Nielsen J, Georgopoulos C, Bross PG. 2007. A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. Journal of Neurology. 254(7):897-900.
Olsen RKJ, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JCS, Cornelius N, et al. 2007. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 130(Pt 8):2045-54. https://doi.org/10.1093/brain/awm135
Zheng H, Shi J, Fang X, Li Y, Vang S, Fan W, Wang J, Zhang Z, Wang W, Kristiansen K, et al. 2007. FGF: A web tool for Fishing Gene Family in a whole genome database. Nucleic Acids Res. .
Tvedegaard KC, Parner E, Attermann J, Hooper CW, Gregersen N, Hollegaard MV, Hougaard D, Thorsen P. 2007. Genetic markers for development of autistic disorder based on multiplex genotyping. Poster session presented at INTERNATIONAL MEETING FOR AUTISM RESEARCH, Seattle, United States.
Tvedegaard KC, Parner E, Hooper CW, Attermann J, Gregersen N, Thorsen P. 2007. Multiplex SNP analysis on whole genome amplified DNA from archived dried bloodspots, a validation study. Poster session presented at Planet xMap, Los Angeles, United States.
Merinero B, Perez-Cerda C, Ruiz Sala P, Ferrer I, Garcia MJ, Martinez Pardo M, Belanger-Quintana A, de la Mota JL, Martin-Hernandez E, Vianey-Saban C, et al. 2007. Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. J. Inherit. Metab. Dis. 29(5):685.
Rohde MC, Banner J, Corydon TJ, Gregersen N. 2007. Sampling Achilles-tendons and culturing fibroblast from forensic autopsies: Tools for diagnostics and cell stress research. In Ikke angivet. Graduate School of Health Sciences. pp. 156-157.
Nielsen KB, Sørensen S, Cartegni L, Corydon TJ, Doktor TK, Schroeder LD, Reinert LS, Elpeleg O, Krainer AR, Gregersen N, et al. 2007. Seemingly neutral polymorphic variants may confer immunity to splicing-inactivating mutations: a synonymous SNP in exon 5 of MCAD protects from deleterious mutations in a flanking exonic splicing enhancer. American Journal of Human Genetics. 80(3):416-432. https://doi.org/10.1086/511992
Bross P, Li Z, Hansen J, Hansen JJ, Nielsen MN, Corydon TJ, Georgopolus C, Ang D, Lundemose JB, Niezen-Koning K, et al. 2007. Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperonin system and their disease-causing potential. Journal of Human Genetics. 52(1):56-65.
Li S, Ma L, Li H, Vang S, Hu Y, Bolund L, Wang J. 2007. Snap: An Integrated SNP Annotation Platform. Nucleic Acids Research. 35:D707-D710. https://doi.org/10.1093/nar/gkl969
Chiong MA, Sim KG, Carpenter K, Rhead W, Ho G, Olsen RKJ, Christodoulou J. 2007. Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency. Molecular Genetics and Metabolism. 92(1-2):109-14. https://doi.org/10.1016/j.ymgme.2007.06.017
Ruan J, Li H, Chen Z, Coghlan A, Coin LJM, Guo Y, Hériché J-K, Hu Y, Kristiansen K, Li R, et al. 2007. TreeFam: 2008 Update. Nucleic Acids Research. 36(Database issue):D735-40. https://doi.org/10.1093/nar/gkm1005
Schiff M, Froissart R, Olsen RKJ, Acquaviva C, Vianey-Saban C. 2006. Electron transfer flavoprotein deficiency: Functional and molecular aspects. Molecular Genetics and Metabolism. 88(2):153-8.
Christensen JH, Rittig S. 2006. Familial neurohypophyseal diabetes insipidus--an update. Seminars in Nephrology. 26(3):209-23.
Singh R, Kølvraa S, Bross PG, Christensen K, Gregersen N, Tan Q, Jensen UB, Eiberg H, Rattan S. 2006. Heat shock protein 70 genes and human longevity: a view from Denmark. New York Academy of Sciences. Annals. 1067:301-308.
Wang W, Zheng H, Fan C, Li J, Shi J, Cai Z, Zhang G, Vang S, Liu D, Zhang J, et al. 2006. High Rate of Chimeric Gene Origination by Retroposition in Plant Genomes. Plant Cell. 18(8):1791-802.
Olsen RKJ. 2006. Multiple Acyl-CoA Dehydrogenation Deficiency: Henry Stewart Talk Series in Protein Epidemiology.
Gregersen N, Bross PG, Vang S, Christensen JH. 2006. Protein Misfolding and Human Disease. Annual Review of Genomics and Human Genetics. 7:103-124.
Gregersen N. 2006. Protein misfolding disorders: pathogenesis and intervention. J. Inherit. Metab. Dis. 29(2-3):456-70.
Singh R, Kølvraa S, Bross P, Jensen UB, Gregersen N, Tan Q, Knudsen C, Rattan SIS. 2006. Reduced heat shock response in human mononuclear cells during aging and its association with polymorphisms in HSP70 genes. Cell Stress & Chaperones. 11(3):208-215.
Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, et al. 2006. Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Human Genetics. 118(30):680-690.
Bross P, Li Z, Hansen J, Hansen JJ, Nielsen MN, Corydon TJ, Georgopoulos C, Ang D, Lundemose JB, Niezen-Koning K, et al. 2006. Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. Journal of Human Genetics. 52(1):56-65. https://doi.org/10.1007/s10038-006-0080-7
Maydan G, Andresen BS, Madsen PP, Zeigler M, Raas-Rotschild A, Zlotogorski A, Gutman A, Korman SH. 2006. TAT gene analysis in three Palestinian kindreds with oculocutaneous tyrosinemia II: characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping. Journal of Inherited Metabolic Disease. 29:620-626.
Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund A, Young SP, Koeberl DD, Millington D, Roe C, Roe D, et al. 2006. Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening. Pediatric Research. 60:315-320.
Boneh A, Andresen BS, Gregersen N, Ibrahim M, Tzanakos N, Peters H, Yaplito-Lee J, Pitt J. 2006. VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Molecular Genetics and Metabolism. 88(2):166-170.
Korman SH, Andresen BS, Zeharia A, Gutman A, Boneh A, Pitt J. 2005. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Clinical chemistry. 51(3):610-617.
Vang S, Corydon TJ, Børglum A, Scott MD, Frydman J, Mogensen J, Gregersen N, Bross P. 2005. Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation. FEBS journal. 272(8):2037-2049.
Vang S, Corydon TJ, Børglum AD, Scott MD, Frydman J, Mogensen J, Gregersen N, Bross P. 2005. Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation. FEBS journal. 272(8):2037-49. https://doi.org/10.1111/j.1742-4658.2005.04630.x
Olpin SE, Clark S, Bischoff C, Olsen RKJ, Gregersen N, Chakrapani A, Downing M, Manning NJ, Andresen BS, Sharrard M, et al. 2005. Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. Journal of Inherited Metabolic Disease. 28(4):533-544.
Hansen J, Gregersen N, Bross PG. 2005. Differential degradation of variant medium-chain acyl-CoA dehydrogenase by the protein quality control proteases Lon and ClpXP. Biochemical and Biophysical Research Communications. 333(4):1160-1170.
Olsen RKJ, Andresen BS, Christensen E, Mandel H, Skovby F, Nielsen JP, Knudsen I, Vianey-Saban C, Simonsen H, Gregersen N. 2005. DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. Prenatal Diagnosis. 25(1):60-64.
Corydon TJ, Hansen J, Bross P, Jensen TG. 2005. Down-regulation of Hsp60 expression by RNAi impairs folding of medium-chain acyl-CoA dehydrogenase wild-type and disease-associated proteins. Molecular Genetics and Metabolism. 85(4):260-70. https://doi.org/10.1016/j.ymgme.2005.04.003
Siggaard C, Christensen JH, Corydon TJ, Rittig S, Robertson GL, Gregersen N, Bolund L, Pedersen EB. 2005. Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds. Clinical Endocrinology. 63(2):207-216.
Vang S. 2005. Familial Cardiomyopathies Molecular. Studies of Actin Mutations Causing Familial Hypertrophic Cardiomyopathy and Familial Dilated Cardiomyopathy. Skejby Sygehus: PhD thesis. 125 p.
Christensen JH, Nielsen MN, Hansen J, Gregersen N, Füchtbauer E-M, Corydon J, Bross PG. 2005. Identification of the Insertion Site of an Inactivating Gene Trap Vector within the Murine SPG13/Hsp60 Gene. Poster session presented at Mid-Term Review Meeting: "Spastic Models", Milano, Italy.
Gregersen N, Bross PG, Jørgensen MM. 2005. Protein folding and misfolding: The role of cellular protein quality control systems in inherited disorders.
Rytter D, Hasenkam JM, Berg JS, Gregersen N, Aagaard SR, Pedersen CB. 2005. The effect of postconditioning on stunning and the expression of antioxidant defence proteins in response to transient myocardial ischemia/reperfusion. Poster session presented at 15th Annual Meeting of The Scandinavian Society for Research in CardioThoracic Surgery, Geilo, Norway.
Olsen RKJ, Andresen BS, Gregersen N, Miedzybrodska Z, Pourfarzam M, Merinero B, Olpin S, Morris AAM. 2005. The Molecular Basis of Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency. In Ikke angivet. 28, suppl 1 ed. Journal of Inherited Metabolic Disease. pp. 116.
Singh R, Kolvraa S, Bross P, Gregersen N, Andersen NB, Frederiksen H, Christensen K, Rattan S. 2004. Association Between Low Self-Rated Health and Heterozygosity: for 110A C Polymorphism in the Promoter Region of HSP70-1 in Aged Danish Twins. Biogerontology. (5).
Singh R, Kølvraa S, Bross PG, Gregersen N, Nexø BA, Frederiksen H, Christensen K, Rattan S. 2004. Association between low self-rated health and heterozygosity for -110 A to C polymorphism in the promoter region of HSP70-1 in aged Danish twins. Biogerontology. 5:160-168.
Mogensen J, Perrot A, Andersen PS, Havndrup O, Klausen IC, Christiansen M, Bross P, Egeblad H, Bundgaard H, Osterziel KJ, et al. 2004. Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. Journal of Medical Genetics. (41):10-10.
Mogensen J, Perrot A, Andersen PS, Havndrup O, Klausen IC, Christiansen M, Bross P, Egeblad H, Bundgaard H, Osterziel KJ, et al. 2004. Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. Journal of Medical Genetics. 41(1):e10.
Gregersen N, Bross P, Andresen BS. 2004. Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. FEBS journal. (271):470-470.
Korman SH, Gutman A, Brooks R, Sinnathamby T, Gregersen N, Andresen BS. 2004. Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G [Formula: see text] C that leads to introduction of a premature termination codon by complete missplicing of the MCADmRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status. Mol. Genet. (Metab 82):121-129.
Nielsen KB, Madsen PP, Schrøder LD, Gregersen N, Andresen BS. 2004.   How exonic point mutations can affect splicing and cause disease - Examples on disruption of exonic splicing regulatory elements in the human acyl-Coa dehydrogenasegenes. Poster session presented at Gordon Research Conference, Biology of Post-Transcriptional Gene Regulation, New Hampshire, United States.
Olsen RK, Pourfarzam M, Morris AA, Dias RC, Knudsen I, Andreseni 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. J Inherit. (Metab Dis.27):671-671.

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Revised 11.09.2025
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Helle Just