Publications

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Wang Y, Palmfeldt J , Gregersen N, Makhov AM, Conway JF, Wang M, McCalley SP, Basu S, Alharbi H, St Croix C, et al. 2019. Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex. Journal of Biological Chemistry. 294(33):12380-12391. https://doi.org/10.1074/jbc.RA119.008680

Brinth L, Nielsen H, Varming K, Boonen SE, Ebsen ACG , Fernández-Guerra P , Schou AS, Mehlsen J, Gregersen N, Brandslund I, et al. 2019. Myalgisk encefalomyelitis eller kronisk træthedssyndrom. Ugeskrift for Læger. 181(24):Article V08180570.

Hansen J , Palmfeldt J , Pedersen KW , Funder AD , Frost L , Hasselstrøm JB , Jornil JR. 2019. Postmortem protein stability investigations of the human hepatic drug-metabolizing cytochrome P450 enzymes CYP1A2 and CYP3A4 using mass spectrometry. Journal of Proteomics. 194:125-131. https://doi.org/10.1016/j.jprot.2018.11.024

Boutrup RJ, Jørgensen MM, Gregersen N , Frost L , Aagaard H, Djernis D, van der Velden AM , Dahlgaard J. 2019. Psykologiske, neurologiske og cellulære virkningsmekanismer ved mindfulnesstræning. Ugeskrift for Læger. 181:1-4.

Hansen BK , Loveridge CJ , Thyssen S , Wørmer GJ , Nielsen AD , Palmfeldt J , Johannsen M , Poulsen TB. 2019. STEFs: Activated Vinylogous Protein-Reactive Electrophiles. Angewandte Chemie - International Edition. 58(11):3533-3537. https://doi.org/10.1002/anie.201814073

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

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

Kvistgaard H , Christensen JH, Johansson J-O, Gregersen N , Siggaard Rittig C , Rittig S , Corydon TJ. 2018. A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing. Neuroendocrinology. 107(2):167-180. https://doi.org/10.1159/000491579

Jacobsen KM , Villadsen NL , Tørring T , Nielsen CB , Salomón T , Nielsen MM , Tsakos M , Sibbersen C , Scavenius C , Nielsen R, et al. 2018. APD-Containing Cyclolipodepsipeptides Target Mitochondrial Function in Hypoxic Cancer Cells. Cell Chemical Biology. 25(11):1337-1349.e12. https://doi.org/10.1016/j.chembiol.2018.07.010

Kyng KJ , Edhager AV , Henriksen TB , Swan CZ , Gregersen N , Palmfeldt J. 2018. Biomarker Discovery by Mass Spectrometry in Cerebrospinal Fluid and Plasma after Global Hypoxia-Ischemia in Newborn Piglets. Neonatology. 114(4):307-314. https://doi.org/10.1159/000490393

Groth KA , Stochholm K, Hove H, Andersen NH, Gravholt CH. 2018. Causes of Mortality in the Marfan Syndrome (from a Nationwide Register Study). The American Journal of Cardiology. 122(7):1231-1235. https://doi.org/10.1016/j.amjcard.2018.06.034

García-Villoria J, De Azua B, Tort F, Mosegaard S, Ugarteburu O, Texidó L, Morales-Romero B, Olsen RKJ, Ribes A. 2018. FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts. Clinical Genetics. 94(6):592-593. https://doi.org/10.1111/cge.13452

Zachariae R , Amidi A , Damholdt MF , Clausen CDR , Dahlgaard J, Lord H, Thorndike FP, Ritterband LM. 2018. Internet-Delivered Cognitive-Behavioral Therapy for Insomnia in Breast Cancer Survivors: A Randomized Controlled Trial. Journal of the National Cancer Institute. 110(8):880-887. https://doi.org/10.1093/jnci/djx293

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.

Breining P , Jensen JB , Sundelin EI , Gormsen LC , Jakobsen S , Busk M , Rolighed L , Bross P , Fernandez-Guerra P, Markussen LK, et al. 2018. Metformin Targets Brown Adipose Tissue in vivo and Reduces Oxygen Consumption in vitro. Diabetes, Obesity and Metabolism. 20(9):2264-2273. https://doi.org/10.1111/dom.13362

Dahlgaard J, Jørgensen MM, van der Velden AM, Sumbundu A, Gregersen N , Olsen RKJ , Mehlsen MY. 2018. Mindfulness, Health, and Longevity. Rattan SIS, Kyriazis M, editors. In The Science of Hormesis in Health and Longevity. Academic Press. pp. 243-255. https://doi.org/10.1016/B978-0-12-814253-0.00022-X

Joshi S , Kvistgaard H , Kamperis K , Færch M , Hagstrøm S , Gregersen N , Rittig S , Christensen JH. 2018. Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus. European Journal of Pediatrics. 177(9):1399-1405. https://doi.org/10.1007/s00431-018-3132-z

Yıldız Y, Olsen RKJ, Sivri HS, Akçören Z, Nygaard HH, Tokatlı A. 2018. Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy. Neuromuscular Disorders. 28(9):787-790. https://doi.org/10.1016/j.nmd.2018.05.009

Bak AM , Vendelbo MH , Christensen B , Viggers R , Bibby BM , Rungby J , Jørgensen JOL , Møller N , Jessen N. 2018. Prolonged fasting-induced metabolic signatures in human skeletal muscle of lean and obese men. PLOS ONE. 13(9):Article e0200817. https://doi.org/10.1371/journal.pone.0200817

Edhager AV , Povlsen JA , Løfgren B , Bøtker HE , Palmfeldt J. 2018. Proteomics of the rat myocardium during development of type 2 diabetes mellitus reveals progressive alterations in major metabolic pathways. Journal of Proteome Research. 17(7):2521-2532. https://doi.org/10.1021/acs.jproteome.8b00276

Liu B, Palmfeldt J , Lin L, Colaço A, Clemmensen KKB, Huang J, Xu F, Liu X, Maeda K, Luo Y, et al. 2018. STAT3 associates with vacuolar H+-ATPase and regulates cytosolic and lysosomal pH. Cell Research. 28(10):996–1012. https://doi.org/10.1038/s41422-018-0080-0

Al-Saaidi RA , Rasmussen TB , Birkler RID , Palmfeldt J, Beqqali A, Pinto YM, Nissen PH , Baandrup U , Mølgaard H, Hey TM, et al. 2018. The clinical outcome of LMNA missense mutations appears to be associated with the amount of mutated protein in the nuclear envelope. European Journal of Heart Failure. 20(10):1404-1412. https://doi.org/10.1002/ejhf.1241

Toustrup LB , Kvistgaard H , Palmfeldt J, Bjerre CK, Gregersen N , Rittig S , Corydon TJ , Christensen JH. 2018. The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants. Neuroendocrinology. 106(2):167–186. https://doi.org/10.1159/000477246

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

Stagsted J, ZHOU J, Jessen R, Palmfeldt J, Torngaard Hansen E, inventors. 2017 Jun 22. Dietary peptides. Patent No. WO2017103200 A1.

Dessein A-F, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, et al. 2017. Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants. Clinica chimica acta; international journal of clinical chemistry. 471:101-106. https://doi.org/10.1016/j.cca.2017.05.026

Toustrup LB , Zhou Y , Kvistgaard H , Gregersen N , Rittig S , Aagaard L , Corydon TJ , Luo Y , Christensen JH. 2017. Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene. Stem Cell Research. 19:37-42. https://doi.org/10.1016/j.scr.2016.12.021

Salomon T , Sibbersen C , Hansen J , Britz DH , Svart M , Voss TS , Møller N , Gregersen N , Jørgensen KA , Palmfeldt J, et al. 2017. Ketone Body Acetoacetate Buffers Methylglyoxal via a Non-enzymatic Conversion during Diabetic and Dietary Ketosis. Cell Chemical Biology. 24(8):935-943. https://doi.org/10.1016/j.chembiol.2017.07.012

Gonzalez-Ebsen AC , Gregersen N , Olsen RK. 2017. Linking telomere loss and mitochondrial dysfunction in chronic disease. Frontiers in Bioscience. 22(1):117-127.

Zhou Y , Al-Saaidi RA , Guerra PF, Freude KK, Olsen RKJ , Jensen UB , Gregersen N, Hyttel P, Bolund L , Aagaard L, et al. 2017. Mitochondrial Spare Respiratory Capacity Is Negatively Correlated With Nuclear Reprogramming Efficiency. Stem Cells and Development. 26(3):166-176. https://doi.org/10.1089/scd.2016.0162

Joshi S, Brandström P, Gregersen N , Rittig S , Christensen JH. 2017. Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus. Case Reports in Nephrology and Dialysis. 7(3):130-137. https://doi.org/10.1159/000480009

Auranen M, Paetau A, Piirila P, Pohju A, Salmi T, Lamminen A, Lofberg M, Mosegaard S , Olsen RK, Tyni T. 2017. Patient with multiple acyl-CoA dehydrogenation deficiency disease and FLAD1 mutations benefits from riboflavin therapy. Neuromuscular Disorders. 27(6):581-584. https://doi.org/10.1016/j.nmd.2017.03.003

Skjold Kingo P , Palmfeldt J , Nørregaard R , Borre M , Jensen JB. 2017. Perioperative Systemic Inflammatory Response following Robot-Assisted Laparoscopic Cystectomy vs. Open Mini-Laparotomy Cystectomy: A Prospective Study. Urologia Internationalis. 99(4):436-445. https://doi.org/10.1159/000478274

Seitz AK , Christensen LL , Christensen E , Faarkrog K , Ostenfeld MS , Hedegaard J , Nordentoft I , Nielsen MM , Palmfeldt J, Thomson M, et al. 2017. Profiling of long non-coding RNAs identifies LINC00958 and LINC01296 as candidate oncogenes in bladder cancer. Scientific Reports. 7(1):Article 395. https://doi.org/10.1038/s41598-017-00327-0

Palmfeldt J , Bross P. 2017. Proteomics of human mitochondria. Mitochondrion. 33:2-14. https://doi.org/10.1016/j.mito.2016.07.006

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

Daugaard I , Venø MT , Yan Y , Kjeldsen TE , Lamy P , Hager H , Kjems J , Hansen LL. 2017. Small RNA sequencing reveals metastasis-related microRNAs in lung adenocarcinoma. OncoTarget. 8(16):27047-27061. https://doi.org/10.18632/oncotarget.15968

Breinbjerg A , Rittig CS , Gregersen N , Rittig S , Christensen JH. 2016. A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome. Acta paediatrica (Oslo, Norway : 1992). https://doi.org/10.1111/apa.13635

Edhager AV , Sibbersen C , Palmfeldt J. 2016. Assessment of oxidative stress in metabolic disorders by mass spectrometry of peroxiredoxins. Poster session presented at PhD Day 2016, Aarhus, Denmark.

Hyldebrandt JA , Støttrup NB , Frederiksen CA , Heiberg J , Dupont Birkler RI , Johannsen M , Schmidt MR , Ravn HB. 2016. Citric Acid Cycle Metabolites Predict the Severity of Myocardial Stunning and Mortality in Newborn Pigs. Pediatric Critical Care Medicine. 17(12):e567-e574. https://doi.org/10.1097/PCC.0000000000000982

Bross P , Fernandez-Guerra P. 2016. Disease-Associated Mutations in the HSPD1 Gene Encoding the Large Subunit of the Mitochondrial HSP60/HSP10 Chaperonin Complex. Frontiers in Molecular Biosciences. 3(AUG):49. https://doi.org/10.3389/fmolb.2016.00049

Bie AS , Fernandez-Guerra P , Birkler RID, Nisemblat S, Pelnena D, Lu X, Deignan JL, Lee H, Dorrani N, Corydon TJ, et al. 2016. Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder. Frontiers in Molecular Biosciences. 3(OCT):65. https://doi.org/10.3389/fmolb.2016.00065

Zhou Y , Liu Y , Hussmann D , Brøgger P , Al-Saaidi RA , Tan S , Lin L , Petersen TS, Zhou GQ, Bross P, et al. 2016. Enhanced genome editing in mammalian cells with a modified dual-fluorescent surrogate system. Cellular and Molecular Life Sciences. 73(13):2543-63. https://doi.org/10.1007/s00018-015-2128-3

Wang W, Palmfeldt J, Mohsen AW, Gregersen N, Vockley J. 2016. Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice. Biochemistry and Biophysics Reports. 8:333-339. https://doi.org/10.1016/j.bbrep.2016.08.014

Fryland T , Christensen JH , Pallesen J , Mattheisen M , Palmfeldt J, Bak M, Grove J , Demontis D , Blechingberg J , Ooi HS, et al. 2016. Identification of the BRD1 interaction network and its impact on mental disorder risk. Genome Medicine. 8(1):53. https://doi.org/10.1186/s13073-016-0308-x

Fogh S , Olsen RKJ , Gregersen N , Aagaard L. 2016. Investigation of the disease mechanisms of Short-Chain Acyl-CoA Dehydrogenase deficiency by biallelic knockout using CRISPR/Cas9. Poster session presented at CRISPR genome editing: From high-throughput screening to disease models, Copenhagen, Denmark.

Bross P, Tanguay RM. 2016. Mitochondrial Hsp70 and the troubles of nomenclature: leaving behind tradition to gain intuitiveness and clarity. Cell Stress & Chaperones. 21(4):547-51. https://doi.org/10.1007/s12192-016-0700-x

Palmfeldt J , Henningsen K, Eriksen SA, Müller HK , Wiborg O. 2016. Protein biomarkers of susceptibility and resilience to stress in a rat model of depression. Molecular and Cellular Neuroscience. 74:87-95. https://doi.org/10.1016/j.mcn.2016.04.001

Sahebekhtiari N , Thomsen MM, Sloth JJ, Stenbroen V, Zeviani M, Gregersen N, Viscomi C, Palmfeldt J. 2016. Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency. Proteomics. 16(7):1166-1176. https://doi.org/10.1002/pmic.201500336

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

Displaying results 101 to 150 out of 438

Revised 10.01.2025

Helle Just

Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

Publications