Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

 Department of Clinical Medicine MMF Publications

Publications

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Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, et al. 2016. Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency. American Journal of Human Genetics. 98(6):1130-45. https://doi.org/10.1016/j.ajhg.2016.04.006
Olsen RKJ, Martlev L, Fernandez-Guerra P, Brinth L. 2018. Kronisk træthedssyndrom, en usynlig sygdom? Seahorse XF teknologi kan måle cellers evne til at producere energi under stress, og afslører dysfunktionelle energisystemer i Kronisk træthedssyndrom. Dansk Kemi. 1(Februar 2018 / 99):20-24.
Olsen RKJ. 2017. Kronisk træthed kan skyldes dysfunktionelle celler. Videnskab.dk.
Olsen RKJ. 2017. Kronisk træthed skyldes defekte energifabrikker. Viden og Videnskab. Sund-forskning.
Olsen RKJ. 2020. Heftig debat om kronisk træthed er i højere grad præget af enighed end uenighed. Sundhedspolitisk Tidsskrift.
Olsen RKJ. 2020. Kronisk træthedssyndrom: Hjælper genoptræning, eller gør det folk mere syge?. Videnskab.dk.
Olsen RKJ. 2021. Sådan kan vi blive klogere om senfølger til COVID-19. Politiken, kroniken.
Olsen RKJ. 2020. Interview on ME/CFS. Radio 4 Weekend Morgen.
Olsen RKJ. 2023. Biomarkører 2023. Film production about biomarker discoveries in metabolic diseases. Olsen RK, Aarhus University in collaboration with DTU Academy and Meedom Kommunikation. Financed by Novonordisk Fonden.
Olsen RKJ. 2021. Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes. medRxiv. https://doi.org/10.1101/2021.06.21.21259171
Olsen RKJ. 2021. Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders. medRxiv. https://doi.org/10.1101/2021.03.09.21253187
Olsen RKJ. 2025. Mitochondrial medicine in fatty acid oxidation disorders: insights from genetic discoveries and patient cell models. Critical Reviews in Biochemistry and Molecular Biology. 60(4-6):231-255. https://doi.org/10.1080/10409238.2025.2564070
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.
Nochi Z, Andreasen C, Corydon TJ, Gregersen N. 2014. APPROACHES TO DECIPHERING THE BALANCE BETWEEN SURVIVAL AND DEATH MECHANISMS IN CELLS WITH MITOCHONDRIAL DYSFUNCTION. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.
Nochi Z. 2013. The role of alpha-lipoic acid in medium-chain acyl-coa dehydrogenase deficiency. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2013, Aarhus, Denmark.
Nochi Z, Gregersen N. 2014. APPROACHES TO DECIPHERING THE BALANCE BETWEEN SURVIVAL AND DEATH MECHANISMS IN CELLS WITH MITOCHONDRIAL DYSFUNCTION. Poster session presented at Euromit 2014, Tampere, Finland.
Nochi Z, Olsen RKJ, Gregersen N. 2017. Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms. Journal of Inherited Metabolic Disease. 40(5):641-655. https://doi.org/10.1007/s10545-017-0047-1
Nochi Z, Birkler RID, Fernandez-Guerra P, Hansen J, Wibrand F, Corydon TJ, Gregersen N, Olsen RKJ. 2020. Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?. Pediatric Research. 88(4):556-564. https://doi.org/10.1038/s41390-020-0801-1
Nochi Z. 2015. Deciphering the balance between survival and death mechanisms and vulnerability to oxidative stress in short and medium-chain acyl-CoA dehydrogenase deficiencies. 125 p.
Nisavic M, Wørmer GJ, Nielsen CS, Jeppesen SM, Palmfeldt J, Poulsen TB. 2023. oxSTEF Reagents Are Tunable and Versatile Electrophiles for Selective Disulfide-Rebridging of Native Proteins. Bioconjugate Chemistry. 34(6):994-1003. https://doi.org/10.1021/acs.bioconjchem.3c00005
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.
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.
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
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.
Muru K, Reinson K, Künnapas K, Lilleväli H, Nochi Z, Mosegaard S, Pajusalu S, Olsen RKJ, Õunap K. 2019. FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening. Molecular Genetics and Genomic Medicine. 7(9):Article e915. https://doi.org/10.1002/mgg3.915
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
Mosegaard S, Olpin SE, Sharrard MJ, Manning NJ, Boneh A, Ryan K, Andreasen C, Kjeldsen M, Gregersen N, Olsen R. 2013. Locus heterogeneity in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.
Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS. 2017. An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Molecular Genetics and Metabolism. 122(4):182-188. https://doi.org/10.1016/j.ymgme.2017.10.014
Mosegaard S, Dipace G, Bross P, Carlsen J, Gregersen N, Olsen RKJ. 2020. Riboflavin deficiency—implications for general human health and inborn errors of metabolism. International Journal of Molecular Sciences . 21(11):Article 3847. https://doi.org/10.3390/ijms21113847
Mosegaard S, Twayana KS, Denis SW, Kroon J, Schomakers BV, van Weeghel M, Houtkooper RH, Olsen RKJ, Holm CK. 2024. Human inborn errors of long-chain fatty acid oxidation show impaired inflammatory responses to TLR4-ligand LPS. FASEB BioAdvances. 6(9):337-350. https://doi.org/10.1096/fba.2024-00060
Mosegaard S. 2022. NOVEL INSIGHTS TO FATTY ACID OXIDATION DISORDERS.
Mortensen MB, Kjolby M, Gunnersen S, Larsen JV, Palmfeldt J, Falk E, Nykjaer A, Bentzon JF. 2014. Targeting sortilin in immune cells reduces proinflammatory cytokines and atherosclerosis. Journal of Clinical Investigation. 124(12):5317-5322. https://doi.org/10.1172/JCI76002
Mortensen MR, Nielsen NL, Palmfeldt J, Gothelf KV. 2019. Imidazole carbamate probes for affinity guided azide-transfer to metal-binding proteins. Organic and Biomolecular Chemistry. 17(6):1379-1383. https://doi.org/10.1039/C8OB03017K
Mortensen MR, Skovsgaard MB, Märcher A, Andersen VL, Palmfeldt J, Nielsen TB, Tørring T, Laursen NS, Andersen KR, Kjems J, et al. 2020. Introduction of an Aldehyde Handle on Nanobodies by Affinity-Guided Labeling. Bioconjugate Chemistry. 31(5):1295-1300. https://doi.org/10.1021/acs.bioconjchem.0c00151
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.
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. J Med. Genet. (41):10-10.
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.
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
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.
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.
Moeslund N, Long Zhang Z, Bo Ilkjaer L, Ryhammer PK, Cramer C, Palmfeldt J, Pedersen M, Erasmus ME, Tsui S, Eiskjaer H. 2022. High Oxygenation During Normothermic Regional Perfusion After Circulatory Death Is Beneficial on Donor Cardiac Function in a Porcine Model. Transplantation. 106(7):e326-e335. https://doi.org/10.1097/TP.0000000000004164
Moeslund N, Zhang ZL, Dalsgaard FF, Glenting SB, Ilkjaer LB, Ryhammer P, Palmfeldt J, Pedersen M, Erasmus M, Eiskjaer H. 2023. Clamping of the Aortic Arch Vessels During Normothermic Regional Perfusion Does Not Negatively Affect Donor Cardiac Function in Donation After Circulatory Death. Transplantation. 107(1):E3-E10. https://doi.org/10.1097/TP.0000000000004298
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.
Mehlsen J, Brinth L, Pors K, Varming K, Wallukat G, Olsen RKJ. 2022. Autoimmunity in patients reporting long-term complications after exposure to human papilloma virus vaccination. Journal of Autoimmunity. 133:Article 102921. https://doi.org/10.1016/j.jaut.2022.102921
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.
Maxel T, Smidt K, Petersen CC, Honoré B, Christensen AK, Jeppesen PB, Brock B, Rungby J, Palmfeldt J, Larsen A. 2019. The zinc transporter Zip14 (SLC39a14) affects Beta-cell Function: Proteomics, Gene expression, and Insulin secretion studies in INS-1E cells. Scientific Reports. 9(1):Article 8589. https://doi.org/10.1038/s41598-019-44954-1
Mathiesen JS, Kroustrup JP, Vestergaard P, Stochholm K, Poulsen PL, Rasmussen ÅK, Feldt-Rasmussen U, Schytte S, Londero SC, Pedersen HB, et al. 2019. Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: A Nationwide Study. Thyroid. 29(3):368-377. https://doi.org/10.1089/thy.2018.0564
Märcher A, Palmfeldt J, Nisavic M, Gothelf KV. 2021. A Reagent for Amine-Directed Conjugation to IgG1 Antibodies. Angewandte Chemie International Edition. 60(12):6539-6544. https://doi.org/10.1002/anie.202013911
Mahía Moros AJ, Kiib AE, Nisavic M, Palmfeldt J, Poulsen T. 2022. A stable α-lactam as electrophilic warhead for bioconjugation and proteomic profiling. Poster session presented at 22nd Tetrahedron Symposium, Lisbon, Portugal.
Mahía A, Kiib AE, Nisavic M, Svenningsen EB, Palmfeldt J, Poulsen TB. 2023. α-Lactam Electrophiles for Covalent Chemical Biology. Angewandte Chemie - International Edition. 62(26):Article e202304142. https://doi.org/10.1002/anie.202304142

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Helle Just