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Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

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Farup J , Just J , de Paoli F , Lin L , Jensen JB , Billeskov T , Roman IS , Cömert C , Møller AB, Madaro L, et al. 2021. Human skeletal muscle CD90+ fibro-adipogenic progenitors are associated with muscle degeneration in type 2 diabetic patients. Cell Metabolism. 33(11):2201-2214.e10. https://doi.org/10.1016/j.cmet.2021.10.001

Paternoster V , Edhager AV , Qvist P , Donskov JG, Shliaha P, Jensen ON, Mors O , Nielsen AL , Børglum AD , Palmfeldt J, et al. 2021. Inactivation of the Schizophrenia-associated BRD1 gene in Brain Causes Failure-to-thrive, Seizure Susceptibility and Abnormal Histone H3 Acetylation and N-tail Clipping. Molecular Neurobiology. 58(9):4495-4505. https://doi.org/10.1007/s12035-021-02432-8

Al-Mashhadi RH , Al-Mashhadi AL , Nasr ZP , Mortensen MB, Lewis EA, Camafeita E, Ravlo K , Al-Mashhadi Z , Kjær DW , Palmfeldt J, et al. 2021. Local Pressure Drives Low-Density Lipoprotein Accumulation and Coronary Atherosclerosis in Hypertensive Minipigs. Journal of the American College of Cardiology. 77(5):575-589. https://doi.org/10.1016/j.jacc.2020.11.059

Lund AM, Wibrand F, Skogstrand K, Bækvad-Hansen M, Gregersen N, Andresen BS, Hougaard DM, Dunø M, Olsen RKJ. 2021. Use of molecular genetic analyses in danish routine newborn screening. International Journal of Neonatal Screening. 7(3):Article 50. https://doi.org/10.3390/IJNS7030050

Fogh S , Dipace G , Bie A, Veiga-da-Cunha M, Hansen J , Kjeldsen M , Mosegaard S, Ribes A, Gregersen N , Aagaard L, et al. 2021. Variants in the Ethylmalonyl-CoA Decarboxylase (ECHDC1) Gene; a Novel Player in Ethylmalonic Aciduria?. Journal of Inherited Metabolic Disease. 44(5):1215-1225. https://doi.org/10.1002/jimd.12394

Bie AS , Cömert C, Körner R, Corydon TJ , Palmfeldt J, Hipp MS, Hartl FU, Bross P. 2020. An inventory of interactors of the human HSP60/HSP10 chaperonin in the mitochondrial matrix space. Cell Stress & Chaperones. 25(3):407-416. https://doi.org/10.1007/s12192-020-01080-6

Cömert C, Brick L, Ang D, Palmfeldt J, Meaney BF, Kozenko M, Georgopoulos C, Fernandez-Guerra P , Bross P. 2020. A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy. Cold Spring Harbor molecular case studies. 6(3):Article a004879. https://doi.org/10.1101/mcs.a004879

Hollensen AK , Thomsen HS , Lloret-Llinares M , Kamstrup AB , Jensen JM , Luckmann M , Birkmose N , Palmfeldt J , Jensen TH , Hansen TB, et al. 2020. circZNF827 nucleates a transcription inhibitory complex to balance neuronal differentiation. eLife. 9:1-29. https://doi.org/10.7554/eLife.58478

Lund A, Wibrand F, Skogstrand K, Cohen A, Christensen M, Jäpelt RB, Dunø M, Skovby F, Nørgaard-Pedersen B, Gregersen N, et al. 2020. Danish expanded newborn screening is a successful preventive public health programme. Danish Medical Journal. 67(1):Article A06190341.

Schou AS, Nielsen JE, Askeland A, Jørgensen MM. 2020. Extracellular vesicle-associated proteins as potential biomarkers. Makowski GS, editor. In Advances in Clinical Chemistry. Elsevier. pp. 1-48. https://doi.org/10.1016/bs.acc.2020.02.011

Laustsen C , Nielsen PM , Qi H , Løbner MH , Palmfeldt J , Bertelsen LB. 2020. Hyperpolarized [1,4-¹³C]fumarate imaging detects microvascular complications and hypoxia mediated cell death in diabetic nephropathy. Scientific Reports. 10:Article 9650. https://doi.org/10.1038/s41598-020-66265-6

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

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

Groennebaek T , Billeskov TB , Schytz CT , Jespersen NR , Bøtker HE , Olsen RKJ, Eldrup N, Nielsen J, Farup J , De Paoli FV, et al. 2020. Mitochondrial Structure and Function in the Metabolic Myopathy Accompanying Patients with Critical Limb Ischemia. Cells. 9(3):Article 570. https://doi.org/10.3390/cells9030570

Carlsen J , Cömert C , Bross P , Palmfeldt J. 2020. Optimized High-Contrast Brightfield Microscopy Application for Noninvasive Proliferation Assays of Human Cell Cultures. ASSAY and Drug Development Technologies. 18(5):215-225. https://doi.org/10.1089/adt.2020.981

Ribeiro JV, Lucas TG, Bross P, Gomes CM, Henriques BJ. 2020. Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance. B B A - Proteins and Proteomics. 1868(1):Article 140269. https://doi.org/10.1016/j.bbapap.2019.140269

Rajkumar AP , Qvist P , Donskov JG, Lazarus R, Pallesen J , Nava N , Winther G , Liebenberg N , Cour SHL , Paternoster V, et al. 2020. Reduced Brd1 expression leads to reversible depression-like behaviors and gene-expression changes in female mice. Translational Psychiatry. 10:Article 239. https://doi.org/10.1038/s41398-020-00914-2

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

Ketheeswaran S , Alsbjerg B, Christensen P, Gravholt CH , Humaidan P. 2019. 45,X/46,XY Mosaicism and Normozoospermia in a Patient with Male Phenotype. Case reports in medicine. 2019:Article 2529080. https://doi.org/10.1155/2019/2529080

Cömert C , Fernandez-Guerra P , Bross P. 2019. A Cell Model for HSP60 Deficiencies: Modeling Different Levels of Chaperonopathies Leading to Oxidative Stress and Mitochondrial Dysfunction. Gomez CM, editor. In Methods in Molecular Biology: Methods and Protocols. Humana Press, New York, NY: Springer. pp. 225-239. (Methods in Molecular Biology). https://doi.org/10.1007/978-1-4939-8820-4_14

Wormer GJ , Hansen BK , Palmfeldt J , Poulsen TB. 2019. A Cyclopropene Electrophile that Targets Glutathione S-Transferase Omega-1 in Cells. Angewandte Chemie International Edition. 58(34):11918-11922. https://doi.org/10.1002/anie.201907520

Ryder B, Tolomeo M, Colella M, Barile M, Olsen RK, Inbar-Feigenberg M, Nochi Z. 2019. A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy. Morava E, Baumgartner M, Patterson M, Rahman S, Zschocke J, Peters V, editors. In JIMD Reports. Springer. pp. 37-44. (JIMD Reports , Vol. 45). https://doi.org/10.1007/8904_2018_139

Skovsgaard MB , Mortensen MR , Palmfeldt J , Gothelf KV. 2019. Aptamer-Directed Conjugation of DNA to Therapeutic Antibodies. Bioconjugate Chemistry. 30(8):2127-2135. https://doi.org/10.1021/acs.bioconjchem.9b00363

Djernis D, Lerstrup I, Poulsen D, Stigsdottir U, Dahlgaard J , O'Toole MS. 2019. A Systematic Review and Meta-Analysis of Nature-Based Mindfulness: Effects of Moving Mindfulness Training into an Outdoor Natural Setting. International Journal of Environmental Research and Public Health. 16(17):Article 3202. https://doi.org/10.3390/ijerph16173202

Paternoster V , Svanborg M , Edhager AV , Rajkumar AP , Eickhardt EA , Pallesen J , Grove J , Qvist P , Fryland T , Wegener G, et al. 2019. Brain proteome changes in female Brd1+/- mice unmask dendritic spine pathology and show enrichment for schizophrenia risk. Neurobiology of Disease. 124:479-488. https://doi.org/10.1016/j.nbd.2018.12.011

Wasalathanthri ND, Zaidi SSEA, Mahrt E, Srivastava S, Yu KH, Johansson KSL, Li F, Jimenez MFT, Lo C, Allareddy V, et al. 2019. Challenging transitions. Science. 363(6422):24-26. https://doi.org/10.1126/science.aaw2641

Abbosh C, Swanton C, Birkbak NJ. 2019. Clonal haematopoiesis: a source of biological noise in cell-free DNA analyses. Annals of Oncology. 30(3):358-359. https://doi.org/10.1093/annonc/mdy552

Sahebekhtiari N , Fernandez-Guerra P , Nochi Z , Carlsen J , Bross P , Palmfeldt J. 2019. Deficiency of the mitochondrial sulfide regulator ETHE1 disturbs cell growth, glutathione level and causes proteome alterations outside mitochondria. B B A - Molecular Basis of Disease. 1865(1):126-135. https://doi.org/10.1016/j.bbadis.2018.10.035

Grings M, Seminotti B, Karunanidhi A, Ghaloul-Gonzalez L, Mohsen A-W, Wipf P, Palmfeldt J, Vockley J, Leipnitz G. 2019. ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts. Scientific Reports. 9(1):1-13. https://doi.org/10.1038/s41598-019-49014-2

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

Kumar V , Nguyen TJD , Palmfeldt J , Gothelf K. 2019. Formation of i-motifs from acyclic (l)-threoninol nucleic acids. Organic & Biomolecular Chemistry. 17(33):7655-7659. https://doi.org/10.1039/c9ob01220f

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

Hagensen MK , Mortensen MB , Kjolby M , Palmfeldt J , Bentzon JF , Gregersen S. 2019. Increased retention of LDL from type 1 diabetic patients in atherosclerosis-prone areas of the murine arterial wall. Atherosclerosis. 286:156-162. https://doi.org/10.1016/j.atherosclerosis.2019.02.027

Dahlgaard J, Jørgensen MM, van der Velden AM, Sumbundu A, Gregersen N , Olsen RKJ , Mehlsen MY. 2019. 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

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

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

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