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Niels Gregersen

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  1. 2012
  2. In press

    Hippocampal biomarkers of susceptibility and resilience to stress in a rat model of depression. / Henningsen, Kim ; Palmfeldt, Johan ; Christiansen, Sofie ; Baiges, Isabel ; Bak, Steffen ; Gregersen, Niels ; Wiborg, Ove.

    In: Molecular & Cellular Proteomics, 06.02.2012.

    Publication: Research - peer-review › Journal article

  3. 2011
  4. Published

    Vulnerability to Oxidative Stress In Vitro in Pathophysiology of Mitochondrial Short-Chain Acyl-CoA Dehydrogenase Deficiency: Response to Antioxidants. / Zolkipli, Zarazuela ; Pedersen, Christina Bak ; Lamhonwah, Anne-Marie ; Gregersen, Niels ; Tein, Ingrid.

    In: P L o S One, Vol. 6, No. 4, 01.01.2011, p. e17534.

    Publication: Research - peer-review › Journal article

  5. Published

    SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site. / Koed Doktor, Thomas ; Schroeder, Lisbeth Dahl ; Vested, Anne ; Palmfeldt, Johan ; Andersen, Henriette Skovgaard ; Gregersen, Niels ; Andresen, Brage Storstein.

    In: Mutation in brief, online, Human Mutation, Vol. 32, No. 2, 01.02.2011, p. 220-30.

    Publication: Research - peer-review › Journal article

  6. Published

    Protein interaction and genetic disease. / Gregersen, Niels ; Bross, Peter ; Olsen, Rikke ; Palmfeldt, Johan ; Corydon, Thomas Juhl.

    In: In Encyclopedia of Life Sciences, 15.02.2011.

    Publication: Research - peer-review › Journal article

  7. Published

    Proteomics Reveals that Redox Regulation Is Disrupted in Patients with Ethylmalonic Encephalopathy. / Palmfeldt, Johan ; Vang, Søren ; Stenbroen, Vibeke ; Pavlou, Evangelos ; Baycheva, Mila ; Buchal, Gebhard ; Monavari, Ardeshir Ahmad ; Augoustides-Savvopoulou, Persephone ; Mandel, Hanna ; Gregersen, Niels.

    In: Journal of Proteome Research, 28.03.2011.

    Publication: Research - peer-review › Journal article

  8. Published

    A cell model to study different degrees of Hsp60 deficiency in HEK293 cells. / Bie, Anne Sigaard ; Palmfeldt, Johan ; Hansen, Jakob ; Christensen, Rikke ; Gregersen, Niels ; Corydon, Thomas Juhl ; Bross, Peter.

    In: Cell Stress & Chaperones, Vol. 16, No. 6, 30.06.2011, p. 633-40.

    Publication: Research - peer-review › Journal article

  9. Published

    Quantitative proteomics reveals cellular targets of celastrol. / Hansen, Jakob ; Palmfeldt, Johan ; Vang, Søren ; Corydon, Thomas Juhl ; Gregersen, Niels ; Bross, Peter.

    In: P L o S One, Vol. 6, No. 10, 26.10.2011.

    Publication: Research - peer-review › Journal article

  10. E-pub ahead of print

    A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early onset neurohypophyseal diabetes insipidus. / Christensen, Jane Hvarregaard ; Kvistgaard, Helene ; Knudsen, Jane Hagelskjær ; Shaikh, Guftar ; Tolmie, John ; Cooke, Sandy ; Pedersen, Søren ; Corydon, Thomas Juhl ; Gregersen, Niels ; Rittig, Søren.

    In: Clinical Genetics, 2011.

    Publication: Research - peer-review › Journal article

  11. Published

    Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency. / Rocha, H. ; Lopes, L. ; Vilarinho, L. ; Ferreira, Rui ; Carvalho, J. ; Vitorino, R. ; Santa, C. ; Amado, F. ; Gregersen, N..

    In: Journal of Proteomics, 2011.

    Publication: Research - peer-review › Journal article

  12. Published

    Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases. / Lucas, Tânia G ; Henriques, Bárbara J ; Rodrigues, João V ; Bross, Peter ; Gregersen, Niels ; Gomes, Cláudio M.

    In: Biochimica et Biophysica Acta, Vol. 1812, No. 12, 2011, p. 1658-63.

    Publication: Research - peer-review › Journal article

  13. Published

    Metabolic responses to heat, Anoxia, or oxidative stress elucidated in muscle cell cultures using 13C NMR spectroscopy. / Straadt, Ida Krestine ; Young, Jette F ; Petersen, Bent O. ; Duus, Jens Ø. ; Gregersen, Niels ; Bross, Peter ; Oksbjerg, Niels ; Bertram, Hanne Christine S..

    In: Magnetic Resonance in Food Science: An exciting future. ed. / J.P. Renou ; P.S. Belton ; G.A. Webb. 2011. p. 118-123.

    Publication: Research › Article in proceedings

  14. Published

    Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules. / Larsen, Jan ; Pettersson, Olof J ; Jakobsen, Maria ; Thomsen, Rune ; Pedersen, Christina B ; Hertz, Jens M ; Gregersen, Niels ; Corydon, Thomas J ; Jensen, Thomas G..

    In: B M C Research Notes, Vol. 4, 2011, p. 490.

    Publication: Research - peer-review › Journal article

  15. Published

    Normal level of plasma free carnitine and acylcarnitine in follow-up samples from a presymptomatic case of carnitine palmitoyl transferase 1 deficiency detected through newborn screening in Denmark. / Louise, Borch ; Meldgaard Lund, Allan ; Wibrandt, Flemming ; Christensen, Ernst ; Søndergaard, Charlotte ; Gahrn, Birthe ; Michael Hougaard, David ; Andresen, Brage Storstein ; Gregersen, Niels ; Olsen, Rikke.

    In: JIMD Reports , 2011.

    Publication: Research - peer-review › Journal article

  16. Published

    Protein Misfolding and degradation in Genetic Diseases (updated version). / Bross, Peter ; Andresen, Brage Storstein ; Corydon, Thomas Juhl ; Gregersen, Niels.

    In: Encyclopedia of the Human Genome. Nature Publishing Group, 2011.

    Publication: Research - peer-review › Journal article

  17. Published

    Quantitative proteomics reveals cellular targets of celastrol. / Hansen, Jakob ; Palmfeldt, Johan ; Vang, Søren ; Corydon, Thomas J ; Gregersen, Niels ; Bross, Peter.

    In: P L o S One, Vol. 6, No. 10, 2011, p. e26634.

    Publication: Research - peer-review › Journal article

  18. Published

    Multiplex Analysis of Cardiac Hypertrophic Signaling: Reduced in vivo Phosphorylation of Glycogen Synthase Kinase-3β and Proline-Rich Akt Substrate (PRAS40). / Larsen, Jens Kjærgaard Rolighed ; Smerup, Morten Holdgaard ; Nørregaard, Rikke ; Christensen, Jane Hvarregaard ; Sivesgaard, Kim ; Christensen, Sara Dahl ; Christensen, Karin ; Sloth, Erik ; Torp, Peter ; Gregersen, Niels ; Hasenkam, John Michael.

    In: Current Signal Transduction Therapy, Vol. 6, No. 1, 2011, p. 65-70.

    Publication: Research - peer-review › Journal article

  19. Published

    Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase. / Schmidt, Stinne P ; Corydon, Thomas J ; Pedersen, Christina B ; Vang, Søren ; Palmfeldt, Johan ; Stenbroen, Vibeke ; Wanders, Ronald J A ; Ruiter, Jos P N ; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, Vol. 34, 2011.

    Publication: Research - peer-review › Journal article

  20. Published

    Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. / Sykut-Cegielska, Jolanta ; Gradowska, Wanda ; Piekutowska-Abramczuk, Dorota ; Andresen, Brage S ; Olsen, Rikke K J ; Ołtarzewski, Mariusz ; Pronicki, Maciej ; Pajdowska, Magdalena ; Bogdańska, Anna ; Jabłońska, Ewa ; Radomyska, Barbara ; Kuśmierska, Katarzyna ; Krajewska-Walasek, Małgorzata ; Gregersen, Niels ; Pronicka, Ewa.

    In: Journal of Inherited Metabolic Disease, Vol. 34, No. 1, 2011, p. 185-95.

    Publication: Research - peer-review › Journal article

  21. 2010
  22. Published

    A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report. / Dessein, Anne-Frédérique ; Fontaine, Monique ; Andresen, Brage S ; Gregersen, Niels ; Brivet, Michèle ; Rabier, Daniel ; Napuri-Gouel, Silvia ; Dobbelaere, Dries ; Mention-Mulliez, Karine ; Martin-Ponthieu, Annie ; Briand, Gilbert ; Millington, David S ; Vianey-Saban, Christine ; Wanders, Ronald J A ; Vamecq, Joseph.

    In: Orphanet Journal of Rare Diseases, Vol. 5, 01.01.2010, p. 26.

    Publication: Research - peer-review › Journal article

  23. Published

    A comprehensive HADHA c.1528G>C frequency studyreveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland. / Piekutowska-Abramczuk , D ; Olsen, Rikke ; Wierzba, J ; Popowska, E ; Jurkiewicz , D ; Ciara, E ; Ołtarzewski, M ; Gradowska , W ; Sykut-Cegielska , J ; Krajewska-Walasek , M ; Andresen, BS ; Gregersen, Niels ; Pronicka, E.

    In: Journal of Inherited Metabolic Disease, 2010.

    Publication: Research - peer-review › Journal article

  24. Published

    A UPLC-MS/MS application for profiling of intermediary energy metabolites in microdialysis samples--a method for high-throughput. / Birkler, Rune Isak Dupont ; Støttrup, Nicolaj ; Hermannson, Sigurd ; Nielsen, Torsten Toftegaard ; Gregersen, Niels ; Bøtker, Hans Erik ; Andreasen, Mette Findal ; Johannsen, Mogens.

    In: Journal of Pharmaceutical and Biomedical Analysis, Vol. 53, No. 4, 2010, p. 983-90.

    Publication: Research - peer-review › Journal article

  25. Published

    Anti-inflammatory heat shock protein 70 genes are positively associated with human survival. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter Gerd ; Christensen, Kaare ; Bathum, Lise ; Gregersen, Niels ; Tan, Qihua ; Rattan, Suresh.

    In: Current Pharmaceutical Design, Vol. 16, No. 7, 2010, p. 796-801.

    Publication: Research - peer-review › Journal article

  26. Published

    Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria. / Pedersen, Christina Bak ; Zolkipli, Zarazuela ; Vang, Søren ; Palmfeldt, Johan ; Kjeldsen, Margrethe ; Stenbroen, Vibeke ; Schmidt, Stinne ; Wanders, Ronald J A ; Ruiter, Jos P N ; Wibrand, Flemming ; Tein, Ingrid ; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, Vol. 33, No. 3, 2010, p. 211-22.

    Publication: Research - peer-review › Journal article

  27. Published

    CHARACTERIZATION OF THE MITOCHONDRIAL PROTEOME IN CULTIVATED CELLS FROM PATIENTS SUFFERING FROM ETHYLMALONIC ENCEPHALOPATHY. / Palmfeldt, Johan ; Stenbroen, Vibeke ; Vang, Søren ; Gregersen, Niels.

    In: Molecular Genetics and Metabolism, No. 1, 2010.

    Publication: Research › Conference abstract in journal

  28. Published

    Disease mechanisms and protein structures in fatty acid oxidation defects. / Gregersen, Niels ; Olsen, Rikke Katrine Jentoft.

    In: Journal of Inherited Metabolic Disease, 2010.

    Publication: Research - peer-review › Journal article

  29. Published

    High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. / Olsen, Rikke ; Dobrowolski, SF ; Kjeldsen, Margrethe ; Hougaard, D ; Simonsen, H ; Gregersen, Niels ; Andresen, BS.

    In: Journal of Inherited Metabolic Disease, Vol. 33, 2010, p. 247-60.

    Publication: Research - peer-review › Journal article

  30. Published

    Inactivation of the hereditary spastic paraplegia-associated Hspd1 gene encoding the Hsp60 chaperone results in early embryonic lethality in mice. / Christensen, Jane H ; Nielsen, Marit N ; Hansen, Jakob ; Füchtbauer, Annette ; Füchtbauer, Ernst-Martin ; West, Mark ; Corydon, Thomas J ; Gregersen, Niels ; Bross, Peter.

    In: Cell Stress & Chaperones, Vol. 15, No. 6, 2010, p. 851-863.

    Publication: Research - peer-review › Journal article

  31. Published

    Lipogenesis is decreased by grape seed proanthocyanidins according to liver proteomics of rats fed a high fat diet. / Baiges, Isabel ; Palmfeldt, Johan ; Blade, Cinta ; Gregersen, Niels ; Arola, Lluis.

    In: Molecular and Cellular Proteomics, 2010.

    Publication: Research - peer-review › Journal article

  32. Published

    Measuring Consequences of Protein Misfolding and Cellular Stress Using OMICS Techniques. / Bross, Peter ; Palmfeldt, Johan ; Hansen, Jakob ; Vang, Søren ; Gregersen, Niels.

    In: Methods in Molecular Biology, Vol. 648, 2010, p. 119-35.

    Publication: Research › Review

  33. Published

    Metabolic profiling of heat or anoxic stress in mouse C2C12 myotubes using multinuclear magnetic resonance spectroscopy. / Straadt, Ida K ; Young, Jette F ; Petersen, Bent O ; Duus, Jens Ø ; Gregersen, Niels ; Bross, Peter ; Oksbjerg, Niels ; Bertram, Hanne C.

    In: Metabolism, Vol. 59, No. 6, 2010, p. 814-823.

    Publication: Research - peer-review › Journal article

  34. Published

    Misfolding of short-chain acyl-CoA dehydrogenase leads to mitochondrial fission and oxidative stress. / Schmidt, Stinne ; Corydon, Thomas Juhl ; Pedersen, Christina Bak ; Bross, Peter ; Gregersen, Niels.

    In: Molecular Genetics and Metabolism, Vol. 100, No. 2, 2010, p. 155-162.

    Publication: Research - peer-review › Journal article

  35. Published

    NMR-Based Metabonomic Investigation of Heat Stress in Myotubes Reveals a Time-Dependent Change in the Metabolites. / Straadt, Ida K ; Young, Jette F ; Bross, Peter ; Gregersen, Niels ; Oksbjerg, Niels ; Theil, Peter K ; Bertram, Hanne C.

    In: Journal of Agricultural and Food Chemistry, Vol. 58, 2010, p. 6376-6386.

    Publication: Research - peer-review › Journal article

  36. Published

    Oxidative stress-induced metabolic changes in mouse C2C12 myotubes studied with high-resolution 13C, 1H, and 31P NMR spectroscopy. / Straadt, Ida K ; Young, Jette F ; Petersen, Bent O ; Duus, Jens Ø ; Gregersen, Niels ; Bross, Peter ; Oksbjerg, Niels ; Theil, Peter K ; Bertram, Hanne C.

    In: Journal of Agricultural and Food Chemistry, Vol. 58, No. 3, 2010, p. 1918-26.

    Publication: Research - peer-review › Journal article

  37. Published

    Protein misfolding and cellular stress: an overview. / Gregersen, Niels ; Bross, Peter.

    In: Methods in Molecular Biology, Vol. 648, 2010, p. 3-23.

    Publication: Research › Review

  38. Published

    Stress response profiles in human fibroblasts exposed to heat shock or oxidative stress. / Pedersen, Christina Bak ; Gregersen, Niels.

    In: Methods in Molecular Biology, Vol. 648, 2010.

    Publication: Research › Journal article

  39. Published

    Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. / Sykut-Cegielska, J ; Gradowska, W ; Piekutowska-Abramczuk , D ; Andresen, BS ; Olsen, Rikke ; Ołtarzewski, M ; Pronicki, M ; Pajdowska, M ; Bogdańska, A ; Jabłońska, E ; Radomyska, B ; Kuśmierska, K ; Krajewska-Walasek , M ; Gregersen, Niels ; Pronicka, E.

    In: Journal of Inherited Metabolic Disease, Vol. 34/1, No. 185-95, 2010.

    Publication: Research - peer-review › Journal article

  40. 2009
  41. Published

      Skal der screenes for en kontroversiel medfødt stofskiftesygdom. / Gregersen, Niels.

    In: AUH, 2009.

    Publication: Communication › Journal article

  42. Published

    Diverse vasopressin V2 receptor functionality underlying partial congenital nephrogenic diabetes insipidus. / Faerch, Mia ; Christensen, Jane H ; Rittig, Søren ; Johansson, Jan-Ove ; Gregersen, Niels ; de Zegher, Francis ; Corydon, Thomas J.

    In: American Journal of Physiology: Renal Physiology, Vol. 297, No. 6, 2009, p. F1518-25.

    Publication: Research - peer-review › Journal article

  43. Published

    Mitochondrial fatty acid oxidation deficiencies: Remaining challenges.. / Gregersen, Niels.

    2009. Abstract from Komrower Lecture at Society for the Study of Inborn Errors of Metabolism, Portugal.

    Publication: Research › Conference abstract for conference

  44. Published

    Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress. / Palmfeldt, Johan ; Vang, Søren ; Stenbroen, Vibeke ; Pedersen, Christina Bak ; Christensen, Jane ; Bross, Peter ; Gregersen, Niels.

    In: Proteome Science, Vol. 7, No. 1, 2009, p. 20.

    Publication: Research - peer-review › Journal article

  45. Published

    Nye spørgsmål til kendte sygdomme. / Gregersen, Niels.

    In: AUH, 2009.

    Publication: Communication › Journal article

  46. 2008
  47. Published

    Cell stress markers in cases of sudden unexpected death in infancy. / Rohde, Marianne Cathrine ; Schmidt, Stinne ; Corydon, Thomas Juhl ; Banner, Jytte ; Gregersen, Niels.

    2008. Abstract from SIDS  10th International Conference 2008, Portsmouth, United Kingdom.

    Publication: Research › Conference abstract for conference

  48. Published

    Cell stress response in cases of sudden unexpected death in infancy.. / Rohde, Marianne Cathrine ; Schmidt, Stinne ; Corydon, Thomas Juhl ; Banner, Jytte ; Gregersen, Niels.

    In: Programme and Abstracts from the PhD Day 2008. 2008. p. 147.

    Publication: Research › Conference abstract in proceedings

  49. Published

    Cell stress response in cases of sudden unexpected death in infancy.. / Rohde, Marianne Cathrine ; Schmidt, Stinne ; Banner, Jytte ; Corydon, Thomas Juhl ; Gregersen, Niels.

    2008. Abstract from PhD Day Aarhus University 2008,, Denmark.

    Publication: Research › Conference abstract for conference

  50. Published

    Decreased expression of the mitochondrial matrix proteases Lon and ClpP in cells from a patient with hereditary spastic paraplegia (SPG13).. / Hansen, Jakob ; Corydon, T J ; Palmfeldt, J ; Dürr, A ; Fontaine, B ; Nyholm, Marit ; Christensen, Jane Hvarregaard ; Gregersen, N ; Bross, P.

    In: Neuroscience, Vol. 153, No. 2, 2008, p. 474-82.

    Publication: Research - peer-review › Journal article

  51. Published

    Hyperthermal cell stress response in cases of sudden infant death.. / Rohde, Marianne Cathrine ; Schmidt, Stinne ; Banner, Jytte ; Corydon, Thomas Juhl ; Gregersen, Niels.

    2008. Abstract from International Association of Forensic Sciences 18th triennial meeting, New Orleans, United States.

    Publication: Research › Conference abstract for conference

  52. Published

    Investigation of the effect of riboflavin on the steady-state amount of variant electron transfer flavoproteins (ETF:QO) identified in patients with riboflavin-responsive multiple acyl-CoA dehydrogeanse deficiency (RR-MADD). / Cornelius, Nanna ; Olsen, Rikke ; Corydon, Thomas Juhl ; Gregersen, Niels.

    In: Journal of Inherited Metabolic Disease, No. 1, 2008, p. 36.

    Publication: Research › Conference abstract in journal

  53. Published

    Mitochondrial fatty acid oxidation defects-remaining challenges.. / Gregersen, Niels ; Andresen, Brage ; Pedersen, Christina Bak ; Olsen, Rikke ; Corydon, Thomas ; Bross, Peter.

    In: Journal of Inherited Metabolic Disease, 2008.

    Publication: Research - peer-review › Journal article

  54. Published

    Partial nephrogenic diabetes insipidus caused by a novel mutation in the AVPR2 gene.. / Færch, Mia ; Christensen, Jane H ; Corydon, Thomas J ; Kamperis, Konstantinos ; de Zegher, Francis ; Gregersen, Niels ; Robertson, Gary L ; Rittig, Søren.

    In: Clinical Endocrinology, Vol. 68, No. 3, 2008, p. 395-403.

    Publication: Research - peer-review › Journal article

  55. Published

    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. / Waisbren, S E ; Levy, H L ; Noble, M ; Matern, D ; Gregersen, N ; Pasley, K ; Marsden, D.

    In: Molecular Genetics and Metabolism, Vol. 95, No. 1-2, 2008, p. 39-45.

    Publication: Research - peer-review › Journal article

  56. Published

    Stress Response Profiles after Hyperthermic Exposure in Cases of Sudden Infant Death. / Rohde, Marianne Cathrine ; Schmidt, Stinne ; Corydon, Thomas Juhl ; Banner, Jytte ; Gregersen, Niels.

    2008. Abstract from Annual Meeting in Translational Medicine, Aarhus University, Aarhus, Denmark.

    Publication: Research › Conference abstract for conference

  57. Published

    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.. / Pedersen, Christina Bak ; Kølvraa, Steen ; Kølvraa, Agnete ; Stenbroen, Vibeke ; Kjeldsen, Margrethe ; Ensenauer, Regina ; Tein, Ingrid ; Matern, Dietrich ; Rinaldo, Piero ; Vianey-Saban, Christine ; Ribes, Antonia ; Lehnert, Willy ; Christensen, Ernst ; Corydon, Thomas J ; Andresen, Brage S ; Vang, Søren ; Bolund, Lars ; Vockley, Jerry ; Bross, Peter ; Gregersen, Niels.

    In: Human Genetics, Vol. 124, No. 1, 2008, p. 43-56.

    Publication: Research - peer-review › Journal article

  58. Published

    The Hsp60-(p.V98I) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo.. / Bross, Peter ; Naundrup, Søren ; Hansen, Jakob ; Nielsen, Marit Nyholm ; Christensen, Jane Hvarregaard ; Kruhøffer, Mogens ; Palmfeldt, Johan ; Corydon, Thomas Juhl ; Gregersen, Niels ; Ang, Debbie ; Georgopoulos, Costa ; Nielsen, Kåre Lehmann.

    In: Journal of Biological Chemistry, Vol. 283, No. 23, 2008, p. 15694-700.

    Publication: Research - peer-review › Journal article

  59. 2007
  60. Published

    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. / Nielsen, Karsten Bork ; Sørensen, Suzette ; Cartegni, Luca ; Corydon, Thomas Juhl ; Doktor, Thomas Koed ; Schroeder, Lisbeth Dahl ; Reinert, Line Sinnathamby ; Elpeleg, Orly ; Krainer, Adrian R ; Gregersen, Niels ; Kjems, Jørgen ; Andresen, Brage Storstein.

    In: American Journal of Human Genetics, Vol. 80, No. 3, 01.03.2007, p. 416-432.

    Publication: Research - peer-review › Journal article

  61. Published

    A novel mutation in the HSPD1 gene in a patient with hereditary spastic paraplegia. / Hansen, Jakob ; Svenstrup, Kirsten ; Ang, Debbie ; Nyholm, Marit ; Christensen, Jane Hvarregaard ; Gregersen, Niels ; E. Nielsen, Jørgen ; Georgopoulos, Costas ; Bross, Peter Gerd.

    In: Journal of Neurology, Vol. 254, No. 7, 2007, p. 897-900.

    Publication: Research - peer-review › Journal article

  62. Published

    ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.. / Olsen, Rikke K J ; Olpin, Simon E ; Andresen, Brage S ; Miedzybrodzka, Zofia H ; Pourfarzam, Morteza ; Merinero, Begoña ; Frerman, Frank E ; Beresford, Michael W ; Dean, John C S ; Cornelius, Nanna ; Andersen, Oluf ; Oldfors, Anders ; Holme, Elisabeth ; Gregersen, Niels ; Turnbull, Douglass M ; Morris, Andrew A M.

    In: Brain, Vol. 130, No. Pt 8, 2007, p. 2045-54.

    Publication: Research - peer-review › Journal article

  63. Published

    Genetic markers for development of autistic disorder based on multiplex genotyping. / Tvedegaard, Kristine C. ; Parner, Erik ; Attermann, Jørn ; Hooper, Craig W. ; Gregersen, Niels ; Hollegaard, Mads Vilhelm ; Hougaard, David ; Thorsen, Poul.

    2007. Poster session presented at INTERNATIONAL MEETING FOR AUTISM RESEARCH, Seattle, United States.

    Publication: Research › Poster

  64. Published

    Multiplex SNP analysis on whole genome amplified DNA from archived dried bloodspots, a validation study. / Tvedegaard, Kristine C. ; Parner, Erik ; Hooper, Craig W. ; Attermann, Jørn ; Gregersen, Niels ; Thorsen, Poul.

    2007. Poster session presented at Planet xMap, Los Angeles, United States.

    Publication: Research › Poster

  65. Published

    Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.. / 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 ; Bischoff, Claus ; Gregersen, Niels ; Ugarte, M.

    In: J. Inherit. Metab. Dis, Vol. 29, No. 5, 2007, p. 685.

    Publication: Research - peer-review › Journal article

  66. Published

    Sampling Achilles-tendons and culturing fibroblast from forensic autopsies: Tools for diagnostics and cell stress research. / Rohde, Marianne Cathrine ; Banner, Jytte ; Corydon, Thomas Juhl ; Gregersen, Niels.

    In: Ikke angivet. Graduate School of Health Sciences, 2007. p. 156-157.

    Publication: Research › Conference abstract in proceedings

  67. Published

    Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperonin system and their disease-causing potential.. / Bross, P. ; Li, Z. ; Hansen, J. ; Hansen, J.J. ; Nielsen, M.N. ; Corydon, T.J. ; Georgopolus, C. ; Ang, D. ; Lundemose, J.B. ; Niezen-Koning, K. ; Eiberg, H. ; Yang, H. ; Kølvraa, S. ; Bolund, L. ; Gregersen, N..

    In: Journal of Human Genetics, Vol. 52, No. 1, 2007, p. 56-65.

    Publication: Research - peer-review › Journal article

  68. 2006
  69. Published

    Reduced heat shock response in human mononuclear cells during aging and its association with polymorphisms in HSP70 genes. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter ; Jensen, Uffe Birk ; Gregersen, Niels ; Tan, Qihua ; Knudsen, Christian ; Rattan, Suresh I S ; Jensen, Uffe Birk.

    In: Cell Stress & Chaperones, Vol. 11, No. 3, 01.01.2006, p. 208-15.

    Publication: Research - peer-review › Journal article

  70. Published

    Heat-shock protein 70 genes and human longevity: a view from Denmark. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter ; Christensen, Kaare ; Gregersen, Niels ; Tan, Qihua ; Jensen, Uffe Birk ; Eiberg, Hans Rudolf Lytchoff ; Rattan, Suresh I S ; Jensen, Uffe Birk.

    In: New York Academy of Sciences. Annals, Vol. 1067, 01.05.2006, p. 301-8.

    Publication: Research - peer-review › Journal article

  71. Published

    Heat shock protein 70 genes and human longevity: a view from Denmark.. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter Gerd ; Christensen, Kaare ; Gregersen, Niels ; Tan, Q. ; Jensen, Uffe Birk ; Eiberg, H. ; Rattan, Suresh.

    In: New York Academy of Sciences. Annals, Vol. 1067, 2006, p. 301-308.

    Publication: Research - peer-review › Journal article

  72. Published

    Protein Misfolding and Human Disease. / Gregersen, Niels ; Bross, Peter Gerd ; Vang, Søren ; Christensen, Jane Hvarregaard.

    In: Annual Review of Genomics and Human Genetics, Vol. 7, 2006, p. 103-124.

    Publication: Research - peer-review › Journal article

  73. Published

    Protein misfolding disorders: pathogenesis and intervention.. / Gregersen, Niels.

    In: J. Inherit. Metab. Dis, Vol. 29, No. 2-3, 2006, p. 456-70.

    Publication: Research - peer-review › Journal article

  74. Published

    Reduced heat shock response in human mononuclear cells during aging and its association with polymorphisms in HSP70 genes. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter Gerd ; Jensen, Uffe Birk ; Gregersen, Niels ; Tan, Q. ; Knudsen, Christian ; Rattan, Suresh.

    In: Cell Stress and Chaperones, Vol. 11, No. 3, 2006, p. 208-215.

    Publication: Research - peer-review › Journal article

  75. Published

    Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. / Madsen, Pia Pinholt ; Kibaek, M. ; Roca, X. ; Sachidanandam, R. ; Krainer, A.R. ; Christensen, E. ; Steiner, R.D. ; Gibson, K.M. ; Corydon, Thomas Juhl ; Knudsen, I. ; Wanders, R.J. ; Ruiter, J.P. ; Gregersen, Niels ; Andresen, Brage Storstein.

    In: Hum. Genet., Vol. 118, No. 30, 2006, p. 680-690.

    Publication: Research - peer-review › Journal article

  76. Published

    Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential. / Bross, Peter ; Li, Zhijie ; Hansen, Jakob ; Hansen, Jens Jacob ; Nielsen, Marit Nyholm ; Corydon, Thomas Juhl ; Georgopoulos, Costa ; Ang, Debbie ; Lundemose, Jytte Banner ; Niezen-Koning, Klary ; Eiberg, Hans ; Yang, Huanming ; Kølvraa, Steen ; Bolund, Lars ; Gregersen, Niels.

    In: Journal of Human Genetics, Vol. 52, No. 1, 2006, p. 56-65.

    Publication: Research - peer-review › Journal article

  77. Published

    Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.. / Pedersen, Christina Bak ; Bischoff, Claus ; Christensen, E ; Simonsen, H ; Lund, A ; Young, S.P. ; Koeberl, D.D. ; Millington, D ; Roe, C ; Roe, D ; Keppen, L ; Stein, Q ; Knudsen, I ; Gregersen, Niels ; Andresen, Brage Storstein.

    In: Pediatric Research, Vol. 60, 2006, p. 315-320.

    Publication: Research - peer-review › Journal article

  78. Published

    VLCAD deficiency: Pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.. / Boneh, A ; Andresen, Brage Storstein ; Gregersen, Niels ; Ibrahim, M ; Tzanakos, N ; Peters, H ; Yaplito-Lee, J ; Pitt, J.

    In: Molecular Genetics and Metabolism, Vol. 88, No. 2, 2006, p. 166-170.

    Publication: Research - peer-review › Journal article

  79. 2005
  80. Published

    Actin mutations in hypertrophic and dilated cardiomyopathy cause inefficient protein folding and perturbed filament formation. / Vang, S. ; Corydon, Thomas Juhl ; Børglum, Anders ; Scott, M.D. ; Frydman, J. ; Mogensen, Jens ; Gregersen, N. ; Bross, P..

    In: F E B S Journal, Vol. 272, No. 8, 2005, p. 2037-2049.

    Publication: Research - peer-review › Journal article

  81. Published

    Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. / Olpin, S.E. ; Clark, S. ; Bischoff, Claus ; Olsen, Rikke Katrine Jentoft ; Gregersen, N. ; Chakrapani, A. ; Downing, M. ; Manning, N.J. ; Andresen, Brage Storstein ; Sharrard, M. ; Bonham, J.R. ; Muntoni, F. ; Turnbull, D.N. ; Pourfarzam, M..

    In: Journal of Inherited Metabolic Disease, Vol. 28, No. 4, 2005, p. 533-544.

    Publication: Research - peer-review › Journal article

  82. Published

    Differential degradation of variant medium-chain acyl-CoA dehydrogenase by the protein quality control proteases Lon and ClpXP. / Hansen, Jakob ; Gregersen, Niels ; Bross, Peter Gerd.

    In: Biochemical and Biophysical Research Communications, Vol. 333, No. 4, 2005, p. 1160-1170.

    Publication: Research - peer-review › Journal article

  83. Published

    DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency. / Olsen, Rikke Katrine Jentoft ; Andresen, Brage Storstein ; Christensen, E. ; Mandel, H. ; Skovby, F. ; Nielsen, J.P. ; Knudsen, I. ; Vianey-Saban, C. ; Simonsen, H. ; Gregersen, N..

    In: Prenatal Diagnosis, Vol. 25, No. 1, 2005, p. 60-64.

    Publication: Research - peer-review › Journal article

  84. Published

    Expression of three different mutations in the arginine vasopressin gene suggests genotype-phenotype correlation in familial neurohypophyseal diabetes insipidus kindreds.. / Siggaard, Charlotte ; Christensen, Jane Hvarregaard ; Corydon, Thomas Juhl ; Rittig, Søren ; Robertson, Gary L. ; Gregersen, Niels ; Bolund, Lars ; Pedersen, Erling Bjerregaard.

    In: Clinical Endocrinology, Vol. 63, No. 2, 2005, p. 207-216.

    Publication: Research - peer-review › Journal article

  85. Published

    Identification of the Insertion Site of an Inactivating Gene Trap Vector within the Murine SPG13/Hsp60 Gene. / Christensen, J.H. ; Nielsen, M.N. ; Hansen, J. ; Gregersen, Niels ; Füchtbauer, Ernst-Martin ; Corydon, J. ; Bross, P.G..

    2005. Poster session presented at Mid-Term Review Meeting: "Spastic Models", Milano, Italy.

    Publication: Research › Poster

  86. Published

    Protein folding and misfolding: The role of cellular protein quality control systems in inherited disorders. / Gregersen, Niels ; Bross, Peter Gerd ; Jørgensen, M.M..

    2005. (The Metabolic and Molecular Basis of Inherited Disease).

    Publication: Research › Working paper

  87. Published

    Protein Misfolding, Aggregation, and Degradation in Disease. / Gregersen, Niels ; Bolund, Lars ; Bross, Peter Gerd.

    In: Molecular Biotechnology, Vol. 31, No. 2, 2005, p. 141-150.

    Publication: Research - peer-review › Journal article

  88. Published

    The effect of postconditioning on stunning and the expression of antioxidant defence proteins in response to transient myocardial ischemia/reperfusion. / Rytter, Dorte ; Hasenkam, John Michael ; Berg, Jette S. ; Gregersen, Niels ; Aagaard, Søren Rosborg ; Pedersen, Christina Bak.

    2005. Poster session presented at 15th Annual Meeting of The Scandinavian Society for Research in Cardiothoracic Surgery, Geilo, Norway.

    Publication: Research › Poster

  89. Published

    The Molecular Basis of Riboflavin-Responsive Multiple Acyl-CoA Dehydrogenation Deficiency. / Olsen, Rikke Katrine Jentoft ; Andresen, Brage Storstein ; Gregersen, Niels ; Miedzybrodska, Z ; Pourfarzam, M ; Merinero, B ; Olpin, S ; Morris, A.A.M..

    In: Ikke angivet. 28, suppl 1. ed. Journal of Inherited Metabolic Disease, 2005. p. 116.

    Publication: Research › Conference abstract in proceedings

  90. 2004
  91. Published

      How exonic point mutations can affect splicing and cause disease - Examples on disruption of exonic splicing regulatory elements in the human acyl-Coa dehydrogenasegenes. / Nielsen, Karsten Bork ; Madsen, Pia Pinholt ; Schrøder, Lisbeth D. ; Gregersen, Niels ; Andresen, Brage Storstein.

    2004. Poster session presented at Gordon Research Conference, Biology of Post-Transcriptional Gene Regulation, New Hampshire, United States.

    Publication: Research › Poster

  92. Published

    Association Between Low Self-Rated Health and Heterozygosity : for 110A C Polymorphism in the Promoter Region of HSP70-1 in Aged Danish Twins. / Singh, Ripudaman ; Kolvraa, S. ; Bross, P. ; Gregersen, N. ; Andersen, N.B. ; Frederiksen, H. ; Christensen, K. ; Rattan, Suresh.

    In: Biogerontology, No. 5, 2004.

    Publication: Research › Journal article

  93. Published

    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. / Singh, Ripudaman ; Kølvraa, Steen ; Bross, Peter Gerd ; Gregersen, Niels ; Nexø, Bjørn Andersen ; Frederiksen, H. ; Christensen, K. ; Rattan, Suresh.

    In: Biogerontology, Vol. 5, 2004, p. 160-168.

    Publication: Research - peer-review › Journal article

  94. Published

    Association between low self-rated health and heterozygosity for -110A C polymorphism in the promoter region of HSP70-1 in aged Danish twins. / Singh, R. ; Kølvrå, S. ; Bross, P. ; Gregersen, N. ; Andersen Nexø, B. ; Frederiksen, H. ; Christensen, K. ; Rattan, S.I..

    In: Biogerontology, Vol. 5, No. 3, 2004, p. 169-176.

    Publication: Research › Journal article

  95. Published

    Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. / Mogensen, J ; Perrot, A ; Andersen, P S ; Havndrup, O ; Klausen, I C ; Christiansen, M ; Bross, P ; Egeblad, H ; Bundgaard, H ; Osterziel, K J ; Haltern, G ; Lapp, H ; Reinecke, P ; Gregersen, N ; Børglum, A D.

    In: Journal of Medical Genetics, Vol. 41, No. 1, 2004, p. e10.

    Publication: Research - peer-review › Journal article

  96. Published

    Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy. / Mogensen, J. ; Perrot, A. ; Andersen, P.S. ; Havndrup, O. ; Klausen, I.C. ; Christiansen, M. ; Bross, P. ; Egeblad, H. ; Bundgaard, H. ; Osterziel, K.J. ; Haltern, G. ; Lapp, H. ; Reinecke, P. ; Gregersen, N. ; Borglum, A.D..

    In: J Med. Genet, No. 41, 2004, p. 10-10.

    Publication: Research › Journal article

  97. Published

    Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations. / Gregersen, N. ; Viljoen, D..

    In: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, Vol. 129A, No. 2, 2004, p. 171-175.

    Publication: Research › Journal article

  98. Published

    Differential cellular handling of defective arginine vasopressin (AVP) prohormones in cells expressing mutations of the AVP gene associated with autosomal dominant and recessive familial neurohypophyseal diabetesinsipidus. / Christensen, J.H. ; Siggaard, C. ; Corydon, Thomas Juhl ; Robertson, G.L. ; Gregersen, Niels ; Bolund, Lars ; Rittig, Søren.

    In: J Clinical Endocrinol Metab, Vol. 89, No. 9, 2004, p. 4521-4531.

    Publication: Research - peer-review › Journal article

  99. Published

    Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. / Gregersen, N. ; Bross, P. ; Andresen, B.S..

    In: F E B S Journal, No. 271, 2004, p. 470-470.

    Publication: Research › Journal article

  100. Published

    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. / Korman, S.H. ; Gutman, A. ; Brooks, R. ; Sinnathamby, Thayline ; Gregersen, N. ; Andresen, B.S..

    In: Mol. Genet, No. Metab 82, 2004, p. 121-129.

    Publication: Research › Journal article

  101. Published

    Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status. / Korman, S.H. ; Gutman, A. ; Brooks, R. ; Sinnathamby, T. ; Gregersen, N. ; Andresen, B.S..

    In: Mol. Genet. Metab., Vol. 82, No. 2, 2004, p. 121-129.

    Publication: Research › Journal article

  102. Published

    Impaired trafficking of mutated AVP prohormone in cells expressing rare disease genes causing autosomal dominant familial neurohypophyseal diabetes insipidus. / Christensen, J.H. ; Siggaard, C. ; Corydon, Thomas Juhl ; Robertson, G.L. ; Gregersen, N. ; Bolund, Lars ; Rittig, Søren.

    In: Clinical Endocrinology, Vol. 60, No. 1, 2004, p. 125-136.

    Publication: Research - peer-review › Journal article

  103. Published

    Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. / Olsen, R.K. ; Pourfarzam, M. ; Morris, A.A. ; Dias, R.C. ; Knudsen, I. ; Andreseni, B.S. ; Gregersen, N. ; Olpin, S.E..

    In: J Inherit, No. Metab Dis.27, 2004, p. 671-671.

    Publication: Research › Journal article

  104. Published

    Lipid-storage yopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency. / Olsen, R.K. ; Pourfarzam, M. ; Morris, A.A. ; Dias, R.C. ; Knudsen, I. ; Andreasen, B.S. ; Gregersen, N. ; Olpin, S.E..

    In: J. Inherit. Metab. Dis, Vol. 27, No. 5, 2004, p. 671-678.

    Publication: Research › Journal article

  105. Published

    No genetic linkage or molecular evidence for involvement of the PCSK9, ARH or CYP7A1 genes in the Familial Hypercholesterolemia phenotype in a samle of Danish families without pathogenic mutations in the LDL receptor and apoB genes. / Damgaard, D. ; Jensen, J.M. ; Larsen, M.L. ; Sørensen, V.R. ; Jensen, H.K. ; Gregersen, Niels ; Jensen, L.G. ; Færgeman, Ole.

    In: Atherosclerosis, Vol. 177, No. 2, 2004, p. 415-422.

    Publication: Research › Journal article

  106. Published

    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. / Damgaard, Dorthe ; Jensen, Jesper M. ; Larsen, Mogens Lytken ; Sørensen, Vibeke R. ; Jensen, Henrik Kjærulf ; Gregersen, Niels ; Jensen, L.G. ; Færgeman, Ole.

    In: Atherosclerosis, Vol. 177, No. 2, 2004, p. 415-422.

    Publication: Research › Journal article

  107. Published

    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 LDL receptor and apoB genes. / Damgaard, D. ; Jensen, J.M. ; Larsen, M.L. ; Sørensen, V.R. ; Jensen, H.K. ; Gregersen, N. ; Jensen, L.G. ; Færgeman, O..

    In: Atherosclerosis, Vol. 177, No. 2, 2004, p. 415-422.

    Publication: Research › Journal article

  108. Published

    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. / Damgaard, D. ; Jensen, J.M. ; Larsen, M.L. ; Soerensen, V.R. ; Jensen, H.K. ; Gregersen, N. ; Jensen, L.G. ; Faergeman, O..

    In: Atherosclerosis, No. 177, 2004, p. 415-415.

    Publication: Research › Journal article

  109. Published

    Protein folding and misfolding : The role of cellular protein quality control systems in inherited disorders. In The Metabolic and Molecular Bases of Inherited Disease. / Gregersen, N. ; Bross, P. ; & Jørgensen, M.M..

    In: Protein folding and misfolding. (Scriver,C.R., Beaudet,A.L., Sly,W.S.,, 2004. p. Århus Amts Trykkeri.

    Publication: Research › Book chapter

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In spring 2011, Aarhus University’s nine main academic areas were reduced to four, and the fifty-five departments became twenty-six. This was to unify the organisation and to strengthen the university’s interdisciplinary approach. We are now following suit by restructuring the entire website to ensure more coherence in the content and design.

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