Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

 Department of Clinical Medicine MMF Publications

Publications

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Lund M, Gregersen N. 2013. The stress modulator protein p66Shc as the effector for lipotoxic damage in VLCADD patients. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.
Pavlou E, Augoustides-Savvopoulou P, Gregersen N, Haas D, Gkampeta A, Athanassiadou-Piperopoulou F. 2012. An Infant With Ethylmalonic Encephalopathy Masquerading as a Hematologic Disorder. Iranian Journal of Child Neurology. https://doi.org/10.1177/0883073812449070
Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Dunø M, Skogstrand K, Olsen RKJ, Jensen UG, Cohen A, et al. 2012. Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening. Molecular Genetics and Metabolism. 107(3):281-93. https://doi.org/10.1016/j.ymgme.2012.06.006
Henningsen K, Palmfeldt J, Christiansen S, Baiges I, Bak S, Jensen ON, Gregersen N, Wiborg O. 2012. Candidate hippocampal biomarkers of susceptibility and resilience to stress in a rat model of depression. Molecular and Cellular Proteomics. 11(7). https://doi.org/10.1074/mcp.M111.016428
Fristrup N, Ulhøi BP, Birkenkamp-Demtröder K, Mansilla F, Sanchez-Carbayo M, Segersten U, Malmström P-U, Hartmann A, Palou J, Alvarez-Múgica M, et al. 2012. Cathepsin E, maspin, Plk1, and survivin are promising prognostic protein markers for progression in non-muscle invasive bladder cancer. American Journal of Pathology. 180(5):1824-34. https://doi.org/10.1016/j.ajpath.2012.01.023
Al-Saaidi RA 2012. Dilated cardiomyopathy causd by LMNA mutations. 49 p.
Laurberg JR, Brems-Eskildsen AS, Nordentoft I, Fristrup N, Schepeler T, Ulhøi BP, Agerbaek M, Hartmann A, Bertz S, Wittlinger M, et al. 2012. Expression of TIP60 (tat-interactive protein) and MRE11 (meiotic recombination 11 homolog) predict treatment-specific outcome of localised invasive bladder cancer. B J U International (Online). https://doi.org/10.1111/j.1464-410X.2012.11564.x
Bross P, Frederiksen JB, Bie AS, Hansen J, Palmfeldt J, Nielsen MN, Duno M, Lund AM, Christensen E. 2012. Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele. Journal of Inherited Metabolic Disease. 35(5):787-796. https://doi.org/10.1007/s10545-011-9437-y
Parnas A, Nisemblat S, Weiss C, Levy-Rimler G, Pri-Or A, Zor T, Lund PA, Bross P, Azem A. 2012. Identification of elements that dictate the specificity of mitochondrial Hsp60 for its co-chaperonin. PLoS One. 7(12):e50318. https://doi.org/10.1371/journal.pone.0050318
Jendle J, Christensen JH, Kvistgaard H, Gregersen N, Rittig S. 2012. Late-onset familial neurohypophyseal diabetes insipidus due to a novel mutation in the AVP gene. Clinical Endocrinology. 77:586–592. https://doi.org/10.1111/j.1365-2265.2012.04417.x
Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, Bross P, Vested A, Simonsen H, Skogstrand K, et al. 2012. MCAD deficiency in Denmark. Molecular Genetics and Metabolism. 106(2):175-88. https://doi.org/10.1016/j.ymgme.2012.03.018
Gregersen N, Hansen J, Palmfeldt J. 2012. Mitochondrial proteomics-a tool for the study of metabolic disorders. Journal of Inherited Metabolic Disease. 35(4):715-26. https://doi.org/10.1007/s10545-012-9480-3
Bross P, Magnoni R, Bie AS. 2012. Molecular chaperone disorders: defective Hsp60 in neurodegeneration. Current Topics in Medicinal Chemistry.
Cornelius N, Frerman FE, Corydon TJ, Palmfeldt J, Bross P, Gregersen N, Olsen RKJ. 2012. Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency. Human Molecular Genetics. 21(15):3435-48. https://doi.org/10.1093/hmg/dds175
Olsen R, Olpin SE, Cornelius N, Andresen BS, Gregersen N. 2012. Mutational spectrum and genotype-phenotype relations in 139 patients suspected to suffer from multiple acyl-CoA dehydrogenation deficiencies. Poster session presented at Society for the Study of Inborn Errors of Metabolism, Birmingham 2012, United Kingdom.
Magnoni R. 2012. Neurodegenerative diseases due to mutation in the mitochondrial Hsp60 chaperone: studies of the pathophysiology using molecular proteomics and phenotype investigations of gene-modified mice. 189 p.
Borch L, Lund AM, Wibrand F, Christensen E, Søndergaard C, Gahrn B, Hougaard DM, Andresen BS, Gregersen N, Olsen RKJ. 2012. Normal Levels of Plasma Free Carnitine and Acylcarnitines in Follow-Up Samples from a Presymptomatic Case of Carnitine Palmitoyl Transferase 1 (CPT1) Deficiency Detected Through Newborn Screening in Denmark. JIMD Reports . 3:11-5. https://doi.org/10.1007/8904_2011_35
Andersen RF, Palmfeldt J, Jespersen B, Gregersen N, Rittig S. 2012. Plasma and urine proteomic profiles in childhood idiopathic nephrotic syndrome. Proteomics - Clinical Applications. 6(7-8):382-93. https://doi.org/10.1002/prca.201100081
Joost K, Ounap K, Zordania R, Uudelepp M-L, Olsen RK, Kall K, Kilk K, Soomets U, Kahre T. 2012. Prevalence of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency in Estonia. JIMD Reports . 2:79-85. https://doi.org/10.1007/8904_2011_51
Olsen R, Bie AS, Van Schaftingen E, Gregersen N. 2012. Search for variations in the ethylmalonyl-CoA decarboxylase gene in patients with ethylmalonic aciduria. Poster session presented at Society for the Study of Inborn Errors of Metabolism, Birmingham 2012, United Kingdom.
Kim JP, Gregersen N, Olsen RKJ, Ghisla S. 2012. The Acyl-CoA Dehydrogenases: Handbook of Flavoproteins. In Handbook of Flavoproteins. de Gruyter. pp. 213-240.
Villadsen SB, Bramsen JB, Ostenfeld MS, Wiklund ED, Fristrup N, Gao S, Hansen TB, Jensen TI, Borre M, Orntoft TF, et al. 2012. The miR-143/-145 cluster regulates plasminogen activator inhibitor-1 in bladder cancer. B J C. 106(2):366-374. https://doi.org/10.1038/bjc.2011.520
Madsen MG, Nørregaard R, Palmfeldt J, Olsen LH, Frøkiær J, Jørgensen TM. 2012. Urinary NGAL, cystatin C, β2-microglobulin, and osteopontin significance in hydronephrotic children. Pediatric Nephrology. 27(11):2099-2106. https://doi.org/10.1007/s00467-012-2217-6
Stødkilde L, Madsen MG, Palmfeldt J, Topcu SO, Nørregaard R, Olsen LH, Jørgensen TM, Frøkiær J. 2012. Urinary proteome analysis in congenital bilateral hydronephrosis. Scandinavian Journal of Urology and Nephrology. https://doi.org/10.3109/00365599.2012.708669
Bie AS, Palmfeldt J, Hansen J, Christensen R, Gregersen N, Corydon TJ, Bross P. 2011. A cell model to study different degrees of Hsp60 deficiency in HEK293 cells. Cell Stress & Chaperones. 16(6):633-40. https://doi.org/10.1007/s12192-011-0275-5
Palmfeldt J. 2011. Analysis of Disease causing Mutations by Mass Spectrometry.
Henriques BJ, Fisher MT, Bross P, Gomes CM. 2011. A polymorphic position in electron transfer flavoprotein modulates kinetic stability as evidenced by thermal stress. FEBS Letters. 585(3):505-10. https://doi.org/10.1016/j.febslet.2011.01.002
Straadt IK, Aaslyng MD, Bertram HCS. 2011. Assesment of meat quality by NMR - An investigation of pork products originating from different breeds. Magnetic Resonance in Chemistry. 49(Suppl. S1):71-78. https://doi.org/10.1002/mrc.2805
Rocha H, Lopes L, Vilarinho L, Ferreira R, Carvalho J, Vitorino R, Santa C, Amado F, Gregersen N. 2011. Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency. Journal of Proteomics. 75(1):221-228. https://doi.org/10.1016/j.jprot.2011.04.025
Lucas TG, Henriques BJ, Rodrigues JV, Bross P, Gregersen N, Gomes CM. 2011. Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases. BBA General Subjects. 1812(12):1658-63. https://doi.org/10.1016/j.bbadis.2011.09.009
Bisgaard C, Christensen T, Henningsen K, Palmfeldt J, Enghild JJ, Wiborg O. 2011. Comparative proteomics in the chronic mild stress model of depression - a search for biomarkers of depression in hippocampal subregions. Poster session presented at Annual society for neuroscience meeting 2011, Washington DC, United States.
Bisgaard C, Christensen T, Henningsen K, Palmfeldt J, Enghild JJ, Wiborg O. 2011. Comparative proteomics in the chronic mild stress model of depression - a search for biomarkers of depression in hippocampal subregions. Poster session presented at 21st Neuropharmacology Conference (Anxiety and Depression), Virginia, United States.
Kvistgaard H. 2011. Familial neurohypophyseal diabetes insipidus: The genetic background and molecular pathogenesis. 139 p.
Munksgaard PP, Mansilla F, Brems Eskildsen A-S, Fristrup N, Birkenkamp-Demtröder K, Ulhøi BP, Borre M, Agerbæk M, Hermann GG, Orntoft TF, et al. 2011. Low ANXA10 expression is associated with disease aggressiveness in bladder cancer. B J C. 105(9):1379-87. https://doi.org/10.1038/bjc.2011.404
Ho G, Yonezawa A, Masuda S, Inui K, Sim KG, Carpenter K, Olsen RK, Mitchell JJ, Rhead WJ, Peters G, et al. 2011. Maternal riboflavin deficiency,resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by amicrodeletion in the riboflavin transporter gene GPR172B. Human Mutation. 32/1.
Straadt IK, Young JF, Petersen BO, Duus JØ, Gregersen N, Bross P, Oksbjerg N, Bertram HCS. 2011. Metabolic responses to heat, Anoxia, or oxidative stress elucidated in muscle cell cultures using 13C NMR spectroscopy. Renou JP, Belton PS, Webb GA, editors. In Magnetic Resonance in Food Science: An exciting future. pp. 118-123.
Larsen JKR, Smerup MH, Nørregaard R, Christensen JH, Sivesgaard K, Christensen SD, Christensen K, Sloth E, Torp P, Gregersen N, et al. 2011. Multiplex Analysis of Cardiac Hypertrophic Signaling: Reduced in vivoPhosphorylation of Glycogen Synthase Kinase-3β and Proline-Rich Akt Substrate (PRAS40). Current Signal Transduction Therapy. 6(1):65-70.
Larsen J, Pettersson OJ, Jakobsen M, Thomsen R, Pedersen CB, Hertz JM, Gregersen N, Corydon TJ, Jensen TG. 2011. Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules. BMC Research Notes. 4:490. https://doi.org/10.1186/1756-0500-4-490
Straadt IK, Aaslyng MD, Bertram HCS. 2011. New gourmet pork products by application of the Iberian and Mangalitza breeds. Side 1-4. Paper presented at 57th ICoMST 2011 - International Congress of Meat Science and Technology: Global challenges to production, processing and consumption of meat , Ghent, Belgium.
Louise B, Meldgaard Lund A, Wibrandt F, Christensen E, Søndergaard C, Gahrn B, Michael Hougaard D, Andresen BS, Gregersen N, Olsen R. 2011. 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. JIMD Reports .
Straadt IK, Aaslyng MD, Bertram HCS. 2011. Novel gourmet pork products by introduction of new breeds. Abstract from LMC Congress FoodInFront, Odense, Denmark.
Gregersen N, Bross P, Olsen R, Palmfeldt J, Corydon TJ. 2011. Protein interaction and genetic disease. In Encyclopedia of Life Sciences.
Bross P, Andresen BS, Corydon TJ, Gregersen N. 2011. Protein Misfolding and degradation in Genetic Diseases (updated version). Encyclopedia of the Human Genome. Nature Publishing Group.
Palmfeldt J, Vang S, Stenbroen V, Pavlou E, Baycheva M, Buchal G, Monavari AA, Augoustides-Savvopoulou P, Mandel H, Gregersen N. 2011. Proteomics Reveals that Redox Regulation Is Disrupted in Patients with Ethylmalonic Encephalopathy. Journal of Proteome Research. https://doi.org/10.1021/pr101218d
Hansen J, Palmfeldt J, Vang S, Corydon TJ, Gregersen N, Bross P. 2011. Quantitative proteomics reveals cellular targets of celastrol. PLoS One. 6(10).
Hansen J, Palmfeldt J, Vang S, Corydon TJ, Gregersen N, Bross P. 2011. Quantitative proteomics reveals cellular targets of celastrol. PLoS One. 6(10):e26634. https://doi.org/10.1371/journal.pone.0026634
Koed Doktor T, Schroeder LD, Vested A, Palmfeldt J, Andersen HS, Gregersen N, Andresen BS. 2011. SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3' splice site. Human Mutation. 32(2):220-30. https://doi.org/10.1002/humu.21419
Schmidt SP, Corydon TJ, Pedersen CB, Vang S, Palmfeldt J, Stenbroen V, Wanders RJA, Ruiter JPN, Gregersen N. 2011. Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase. Journal of Inherited Metabolic Disease. 34. https://doi.org/10.1007/s10545-010-9255-7
Sykut-Cegielska J, Gradowska W, Piekutowska-Abramczuk D, Andresen BS, Olsen RKJ, Ołtarzewski M, Pronicki M, Pajdowska M, Bogdańska A, Jabłońska E, et al. 2011. Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening. Journal of Inherited Metabolic Disease. 34(1):185-95. https://doi.org/10.1007/s10545-010-9244-x
Zolkipli Z, Pedersen CB, Lamhonwah A-M, Gregersen N, Tein I. 2011. Vulnerability to Oxidative Stress In Vitro in Pathophysiology of Mitochondrial Short-Chain Acyl-CoA Dehydrogenase Deficiency: Response to Antioxidants. PLoS One. 6(4):e17534. https://doi.org/10.1371/journal.pone.0017534

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Revised 11.09.2025
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Helle Just