Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

 Department of Clinical Medicine MMF Publications

Publications

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Dittrich A, Andersson SA, Busk M, Hansen K, Foldager CB, Palmfeldt J, Andersen A, Pedersen M, Vendelbo M, Nielsen KL, et al. 2026. Metabolic changes during cardiac regeneration in the axolotl. Developmental Dynamics. 255(1):66-85. https://doi.org/10.1002/dvdy.70020
Schmidt V, Ziemlinska E, Obrebski T, Gomes JP, Zurawska-Plaksej E, Cendrowski J, Palmfeldt J, Hempstead BL, Willnow TE, Malik AR. 2025. Astrocytes distress triggers brain pathology through induction of δ secretase in a murine model of Alzheimer’s disease. Nature Communications. 16(1):Article 9653. https://doi.org/10.1038/s41467-025-65536-y
Thanarajasingam G, Major A, Bhatnagar V, Dueck AC, Smedby KE, El-Galaly TC, Geissler J, Habermann T, Kluetz PG, Seymour JF, et al. 2025. Beyond maximum grade: introduction to The Lancet Haematology Adverse Events Reporting Series. The Lancet Haematology. 12(6):e403-e406. https://doi.org/10.1016/S2352-3026(25)00027-4
Gutiérrez-Jiménez E, Rasmussen PM, Mikkelsen IK, Kura S, Fruekilde SK, Hansen B, Bordoni L, Carlsen J, Palmfeldt J, Boas DA, et al. 2025. Carbonic anhydrase inhibitors prevent presymptomatic capillary flow disturbances in a model of cerebral amyloidosis. Alzheimer's & Dementia. 21(3):Article e70023. https://doi.org/10.1002/alz.70023
Chang S, Pedersen L, Skakkebæk A, Berglund A, Gravholt CH. 2025. Cardiovascular risk and mortality in men receiving testosterone replacement therapy for Klinefelter syndrome in Denmark: a retrospective cohort study. The Lancet Regional Health - Europe. 51:Article 101230. https://doi.org/10.1016/j.lanepe.2025.101230
Carlsen J, Fossati S, Østergaard L, Gutiérrez-Jiménez E, Palmfeldt J. 2025. Cerebral proteome adaptations to amyloid angiopathy are prevented by carbonic anhydrase inhibitors. Alzheimer's and Dementia. 21(4):Article e70122. https://doi.org/10.1002/alz.70122
Zhang H, Santana-Codina N, Yu Q, Poupault C, Campos C, Qin X, Sindoni N, Ciscar M, Padhye A, Kuljanin M, et al. 2025. De novo pyrimidine biosynthesis inhibition synergizes with BCL-XL targeting in pancreatic cancer. Nature Communications. 16(1):Article 6987. https://doi.org/10.1038/s41467-025-61242-x
Just J, Ridder LOR, Johannsen EB, Jensen JMB, Petersen MS, Christensen HV, Kjærgaard K, Redder J, Chang S, Stochholm K, et al. 2025. Elevated levels of neutrophils with a pro-inflammatory profile in Turner syndrome across karyotypes. npj Genomic Medicine. 10(1):Article 9. https://doi.org/10.1038/s41525-025-00467-7
Cools M, Krausz C, Juul A, Macut D, Andersen MS, Andersson AM, Andoniadou CL, Ahmed SF, Bakker J, Bashamboo A, et al. 2025. EndoCompass project: research roadmap for reproductive and developmental endocrinology. European Journal of Endocrinology. 193:ii97-ii116. https://doi.org/10.1093/ejendo/lvaf069
Juul-Madsen K, Rudolph IM, Gomes JP, Meyer K, Ovesen PL, Gorniak-Walas M, Kokoli M, Telugu NS, von Tangen Sivertsen M, Febbraro F, et al. 2025. Familial Alzheimer's disease mutation identifies novel role of SORLA in release of neurotrophic exosomes. Alzheimer's and Dementia. 21(9):Article e70591. https://doi.org/10.1002/alz.70591
Hansen KS, Jørgensen SE, Cömert C, Schiøttz-Christensen B, Bross P, Agergaard J, Leth S, Østergaard L, Palmfeldt J, Olsen RKJ, et al. 2025. Genetic Landscape and Mitochondrial Metabolic Dysregulation in Patients Suffering From Severe Long COVID. Journal of Medical Virology. 97(3):Article e70275. https://doi.org/10.1002/jmv.70275
Kapel JS, Stokholm R, Elmengaard B, Nochi Z, Olsen RKJ, Foldager CB. 2025. Individualized Algorithm-Based Intermittent Hypoxia Improves Quality of Life in Patients Suffering from Long-Term Sequelae After COVID-19 Infection. Journal of Clinical Medicine. 14(5):Article 1590. https://doi.org/10.3390/jcm14051590
Palmfeldt J. 2025. Interaction and regulation of the mitochondrial proteome - in health and disease. Expert Review of Proteomics. 22(1):19-33. https://doi.org/10.1080/14789450.2025.2451704
Greda AK, Gomes JP, Schmidt-Krueger V, Zurawska-Plaksej E, Fritsche-Guenther R, Rudolph I-M, Telugu NS, Cömert C, Kirwan J, Kunz S, et al. 2025. Interaction of sortilin with apolipoprotein E3 enables neurons to use long-chain fatty acids as alternative metabolic fuel. Nature Metabolism. 7(11):2346–2365. https://doi.org/10.1038/s42255-025-01389-5
on behalf of Danish Thyroid Cancer Group (DATHYRCA). 2025. RET C611Y Germline Variant in Multiple Endocrine Neoplasia Type 2A in Denmark 1930–2021: A Nationwide Study. Cancers. 17(3):Article 374. https://doi.org/10.3390/cancers17030374
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
Woytash JA, Kumar R, Chaudhary AK, Donnelly C, Wojtulski A, Bethu M, Wang J, Spernyak J, Bross P, Yadav N, et al. 2025. Mitochondrial unfolded protein response-dependent β-catenin signaling promotes neuroendocrine prostate cancer. Oncogene. 44(12):820-834. https://doi.org/10.1038/s41388-024-03261-4
Albayrak Rasborg Hartogsohn E, Hiort M, Rohayem J, Fedder J, Laurentino S, Gromoll J, Jörgens S, Ochsner Reynaud Ridder L, Skakkebaek A, Buskbjerg C, et al. 2025. Neurocognitive function in males with 46,XX testicular difference of sex development. Orphanet Journal of Rare Diseases. 20(1):Article 607. https://doi.org/10.1186/s13023-025-04126-z
Leunbach TL, Berglund A, Ernst A, Hvistendahl GM, Rawashdeh YF, Gravholt CH. 2025. Prevalence, Incidence, and Age at Diagnosis of Boys With Hypospadias: A Nationwide Population-Based Epidemiological Study. Journal of Urology. 213(3):350-358. https://doi.org/10.1097/JU.0000000000004319
Biswas D, Liu YH, Herrero J, Wu Y, Moore DA, Karasaki T, Grigoriadis K, Lu WT, Veeriah S, Naceur-Lombardelli C, et al. 2025. Prospective validation of ORACLE, a clonal expression biomarker associated with survival of patients with lung adenocarcinoma. Nature Cancer. 6(1):86-101. https://doi.org/10.1038/s43018-024-00883-1
Elbæk SK, Lamy P, Laugesen S, Stilling C, Nordentoft I, Dyrskjøt L, Jakobsen JK. 2025. Retrospective clinical and molecular characterisation of patients with penile intraepithelial neoplasia. BJU International. 136(2):280-288. https://doi.org/10.1111/bju.16754
Shanmuganathan JWD, Kragholm K, Yonis H, Schou M, Torp-Pedersen C, Poulsen LØ, Pareek M, Gislason G, Køber L, Nielsen D, et al. 2025. Risk of myocardial infarction following capecitabine treatment in patients with gastrointestinal cancer – a nationwide registry-based study. Cardio-Oncology. 11(1):Article 105. https://doi.org/10.1186/s40959-025-00401-x
Collao N, Johannsen EB, Just J, De Lisio M. 2025. Single-cell transcriptomic analysis reveals alterations to cellular dynamics and paracrine signaling in radiation-induced muscle pathology. American Journal of Physiology - Cell Physiology. 328(6):C1995-C2012. https://doi.org/10.1152/ajpcell.00115.2025
Ding X, Lai X, Klaestrup IH, Jensen SRN, Nielsen MM, Thorsen K, Romero-Ramos M, Luo Y, Lin L, Reinert LS, et al. 2025. Temporally resolved single-cell RNA sequencing reveals protective and pathological responses during herpes simplex virus CNS infection. Journal of Neuroinflammation. 22(1):Article 146. https://doi.org/10.1186/s12974-025-03471-x
Simonsen MR, Jensen JF, Larsen TS, Gade IL, de Nully Brown P, El-Galaly TC. 2025. The Prevalence of Diffuse Large B-Cell Lymphoma Varies Substantially by Methods Applied: Results From a Population-Based Study. European Journal of Haematology. 114(3):528-535. https://doi.org/10.1111/ejh.14359
Stochholm K, Rasmussen AB, Skakkebæk A. 2025. Visualizing Turner Syndrome. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 199(2):134-138. https://doi.org/10.1002/ajmg.c.32144
Frydendahl A, Widman AJ, Øgaard N, Arora A, Halmos D, Nors J, Ahrenfeldt J, Henriksen TV, Demuth C, Raaby L, et al. 2025. Whole-genome sequencing of cell-free DNA reveals DNA of tumor origin in plasma from patients with colorectal adenomas. Molecular Oncology. 19(4):984-993. https://doi.org/10.1002/1878-0261.13803
Bertelsen MB, Tsang E, Palmfeldt J, Kristoffersen CH, Nisavic M, Gothelf KV. 2024. A Diketopinic Reagent for the Reversible Bioconjugation to Arginine Residues on Native Antibodies. Bioconjugate Chemistry. 35(11):1755-1761. https://doi.org/10.1021/acs.bioconjchem.4c00317
Razim A, Zabłocka A, Schmid A, Thaler M, Černý V, Weinmayer T, Whitehead B, Martens A, Skalska M, Morandi M, et al. 2024. Bacterial extracellular vesicles as intranasal postbiotics: Detailed characterization and interaction with airway cells. Journal of Extracellular Vesicles. 13(10):Article e70004. https://doi.org/10.1002/jev2.70004
Lin Y, Rasmussen MH, Christensen MH, Frydendahl A, Maretty L, Andersen CL, Besenbacher S. 2024. Evaluating Bioinformatics Processing of Somatic Variant Detection in cfDNA Using Targeted Sequencing with UMIs. International Journal of Molecular Sciences . 25(21):Article 11439. https://doi.org/10.3390/ijms252111439
Steininger F, Palmfeldt J, Koren K, Kalinichev AV. 2024. Exploiting the pH-Cross Sensitivity of Ion-Selective Optodes to Broaden Their Response Range. ACS Sensors. 9(9):4555-4559. https://doi.org/10.1021/acssensors.4c01481
Eskin-Schwartz M, Seraidy S, Paz E, Molhem M, Ranza E, Antonarakis SE, Blanc X, Herman K, Benko WS, Libzon S, et al. 2024. Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation. Journal of Medical Genetics. 62(1):15-24. https://doi.org/10.1136/jmg-2024-109862
Cömert C, Kjær-Sørensen K, Hansen J, Carlsen J, Just J, Meaney BF, Østergaard E, Luo Y, Oxvig C, Schmidt-Laursen L, et al. 2024. HSP60 chaperone deficiency disrupts the mitochondrial matrix proteome and dysregulates cholesterol synthesis. Molecular Metabolism. 88:Article 102009. https://doi.org/10.1016/j.molmet.2024.102009
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
Johannessen AL, Alstrup M, Hjortdal VE, Palmfeldt J, Offersen BV, Mohanakumar S. 2024. Increased Microvascular Filtration and Vascular Endothelial Growth Factor-D associated with Changed Lymphatic Vessel Morphology in Breast Cancer Treated Patients. Plastic and Reconstructive Surgery - Global Open. 12(7):Article e5968. https://doi.org/10.1097/GOX.0000000000005968
Berglund A, Johannsen EB, Skakkebæk A, Chang S, Rohayem J, Laurentino S, Hørlyck A, Drue SO, Bak EN, Fedder J, et al. 2024. Integration of long-read sequencing, DNA methylation and gene expression reveals heterogeneity in Y chromosome segment lengths in phenotypic males with 46,XX testicular disorder/difference of sex development. Biology of Sex Differences. 15(1):Article 77. https://doi.org/10.1186/s13293-024-00654-8
Øzdemir CM, Nielsen MM, Liimatta J, Voegel CD, Elzenaty RN, Wasehuus VS, Lind-Holst M, Ornstrup MJ, Gram SB, Ousager LB, et al. 2024. Late diagnosis of partial 3β-hydroxysteroid dehydrogenase type 2 deficiency – characterization of a new genetic variant. Endocrinology, Diabetes and Metabolism Case Reports. 2024(3):Article 23-0090. https://doi.org/10.1530/EDM-23-0090
Hasselholt S, Cömert C, Just J, Bross P, Nyengaard JR, Hansen B, Østergaard L. 2024. Microvessel and mitochondria changes in a mouse model of Alzheimer’s disease. BIO Web of Conferences. 129:Article 16017. https://doi.org/10.1051/bioconf/202412916017
Atay JCL, Elsborg SH, Palmfeldt J, Nejsum LN, Nørregaard R. 2024. Recovery of Water Homeostasis in Adenine-Induced Kidney Disease Is Mediated by Increased AQP2 Membrane Targeting. International Journal of Molecular Sciences (Online). 25(6):Article 3447. https://doi.org/10.3390/ijms25063447
Eggertsen PP, Palmfeldt J, Schytz HW, Hay D, Olsen RKJ, Nielsen JF. 2024. Serum calcitonin gene‑related peptide in patients with persistent post‑concussion symptoms, including headache: a cohort study. Journal of Neurology. 271(5):2458-2472. https://doi.org/10.1007/s00415-024-12181-y
Eggertsen PP, Palmfeldt J, Pedersen AR, Frederiksen O-V, Olsen RKJ, Nielsen JF. 2024. Serum neurofilament light chain, inflammatory markers, and kynurenine metabolites in patients with persistent post-concussion symptoms: A cohort study. Journal of the Neurological Sciences. 460:Article 123016. https://doi.org/10.1016/j.jns.2024.123016
Fahlquist-Hagert C, Wittenborn TR, Terczyńska-Dyla E, Kastberg KS, Yang E, Rallistan AN, Markett QR, Winther G, Fonager S, Voss LF, et al. 2023. Antigen presentation by B cells enables epitope spreading across an MHC barrier. Nature Communications. 14(1):Article 6941. https://doi.org/10.1038/s41467-023-42541-7
Ghavami M, Pedersen JG, Kjeldsen RB, Alstrup AKO, Zhang Z, Koulianou V, Palmfeldt J, Vorup-Jensen T, Thamdrup LHE, Boisen A. 2023. A self-unfolding proximity enabling device for oral delivery of macromolecules. Journal of Controlled Release. 361:40-52. https://doi.org/10.1016/j.jconrel.2023.07.041
Frandsen M, El-Chami K, Palmfeldt J, Smidt JM, Langballe MET, Sandahl A, Gothelf KV. 2023. Automated Solid-Phase Oligo(disulfide) Synthesis. Angewandte Chemie International Edition. 62(23):Article e202303170. https://doi.org/10.1002/anie.202303170
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.
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
Jørgensen CS, Kamperis K, Knudsen JH, Kjeldsen M, Christensen JH, Borch L, Rittig S, Palmfeldt J. 2023. Differences in the urinary metabolome and proteome between wet and dry nights in children with monosymptomatic nocturnal enuresis and nocturnal polyuria. Pediatric nephrology (Berlin, Germany). 38(10):3347-3358. https://doi.org/10.1007/s00467-023-05963-5
Skakkebæk A, Kjær-Sørensen K, Matchkov VV, Christensen LL, Just J, Cömert C, Andersen NH, Oxvig C, Gravholt CH. 2023. Dosage of the pseudoautosomal gene SLC25A6 is implicated in QTc interval duration. Scientific Reports. 13(1):Article 12089. https://doi.org/10.1038/s41598-023-38867-3
Schmid AM, Razim A, Wysmołek M, Kerekes D, Haunstetter M, Kohl P, Brazhnikov G, Geissler N, Thaler M, Krčmářová E, et al. 2023. Extracellular vesicles of the probiotic bacteria E. coli O83 activate innate immunity and prevent allergy in mice. Cell Communication and Signaling. 21(1):Article 297. https://doi.org/10.1186/s12964-023-01329-4
Agergaard J, Yamin Ali Khan B, Engell-Sørensen T, Schiøttz-Christensen B, Jørgen Østergaard L, Hejbøl EK, Schrøder HD, Andersen H, Blicher JU, Holm Pedersen T, et al. 2023. Myopathy as a cause of Long COVID fatigue: Evidence from quantitative and single fiber EMG and muscle histopathology. Clinical Neurophysiology. 148:65-75. https://doi.org/10.1016/j.clinph.2023.01.010

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Revised 11.09.2025
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Helle Just