Publications

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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.e7. https://doi.org/10.1016/j.chembiol.2017.07.012

Olsen RKJ. 2017. Kronisk træthed kan skyldes dysfunktionelle celler. Videnskab.dk.

Olsen RKJ. 2017. Kronisk træthed skyldes defekte energifabrikker.

Gonzalez-Ebsen AC , Gregersen N , Olsen RK. 2017. Linking telomere loss and mitochondrial dysfunction in chronic disease. Frontiers in Bioscience. 22(1):117-127. https://doi.org/10.2741/4475

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):2543-2563. 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):547-551. 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):1130-1145. https://doi.org/10.1016/j.ajhg.2016.04.006

Birkler RID , Nochi Z , Gregersen N , Palmfeldt J. 2016. Selected reaction monitoring mass spectrometry for relative quantification of proteins involved in cellular life and death processes. Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 1035:49-56. https://doi.org/10.1016/j.jchromb.2016.09.017

Wang M, Carver JJ, Phelan VV, Sanchez LM, Garg N, Peng Y, Nguyen DD, Watrous J, Kapono CA, Luzzatto-Knaan T, et al. 2016. Sharing and community curation of mass spectrometry data with Global Natural Products Social Molecular Networking. Nature Biotechnology. 34(8):828-837. https://doi.org/10.1038/nbt.3597

Sahebekhtiari N , Nielsen CB , Johannsen M , Palmfeldt J. 2016. Untargeted Metabolomics Analysis Reveals a Link between ETHE1-Mediated Disruptive Redox State and Altered Metabolic Regulation. Journal of Proteome Research. 15(5):1630-1638. https://doi.org/10.1021/acs.jproteome.6b00100

Fentz J, Kjøbsted R, Birk JB, Jordy AB, Jeppesen J, Thorsen K, Schjerling P, Kiens B, Jessen N, Viollet B, et al. 2015. AMPKα is critical for enhancing skeletal muscle fatty acid utilization during in vivo exercise in mice. The FASEB Journal. 29(5):1725-1738. https://doi.org/10.1096/fj.14-266650

Fernandez-Guerra P , Lund M , Corydon TJ , Cornelius N , Gregersen N , Palmfeldt J , Bross P. 2015. Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders. JIMD Reports . https://doi.org/10.1007/8904_2015_494

Lund M , Olsen RKJ , Gregersen N. 2015. A short introduction to acyl-CoA dehydrogenases; deficiencies and novel treatment strategies. Expert Opinion on Orphan Drugs. 3(12):1375-1386. https://doi.org/10.1517/21678707.2015.1092869

Wang Y, Palmfeldt J , Gregersen N, Vockley J. 2015. Characterizing the Molecular Architecture of Mitochondrial Energy Metabolism. Poster session presented at Society for the Study of Inborn Errors of Metabolism: SSIEM, 2015.

Saunders C, Smith L, Wibrand F, Ravn K, Bross P, Thiffault I, Christensen M, Atherton A, Farrow E, Miller N, et al. 2015. CLPB Variants Associated with Autosomal-Recessive Mitochondrial Disorder with Cataract, Neutropenia, Epilepsy, and Methylglutaconic Aciduria. American Journal of Human Genetics. 96(2):258-65. https://doi.org/10.1016/j.ajhg.2014.12.020

Søes S, Brinth L, Gregersen N , Olsen RKJ. 2015. CoQ10 as a modulator of mitochondrial dysfunction and maladaptive stress responses in chronic fatigue syndrome. In Coenzyme Q10: from fact to fiction: Cell Biology Research Progress. Nova Science Publishers.

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.

Sahebekhtiari N. 2015. Elucidation of the Molecular Effects of ETHE1 deficiency by Proteomics and Metabolomics. 150 p.

Joshi S , Andersen RF , Jespersen B , Rasmussen M , Madsen LB, Hansen A, Nagaraj S, Kjeldsen M , Olsen RKJ , Gregersen N, et al. 2015. Genetic Variants in NPHS1, NPHS2 and INF2 in Patients with Primary Focal Segmental Glomerulosclerosis in Denmark. Poster session presented at 10th International Podocyte Conference, Freiburg, Germany.

Joshi S , Andersen RF , Jespersen B , Kjeldsen M , Olsen RKJ , Rittig S. 2015. High-resolution melting analysis to study gene variations in Nephrotic Syndrome. Poster session presented at 12th International Symposium on Mutation in the Genome, Lake Louise, Canada.

Joshi S , Gregersen N, Christensen JH, Rittig S, Brandstrom P. 2015. Novel de novo AVPR2 mutation causing CNDI in Swedish patient. Poster session presented at 12th International Conference on human genetics, Montreal, Canada.

Kyng KJ , Edhager AV , Andreassen CS , Henriksen TB , Gregersen N , Palmfeldt J. 2015. Novel plasma and CSF biomarkers of hypoxic-ischemic encephalopathy identified by mass spectrometry. Abstract from 1st Congress of joint European Neonatal Societies, Budapest, Hungary.

Dollerup P , Thomsen TM , Nejsum LN , Færch M, Österbrand M, Gregersen N , Rittig S , Christensen JH , Corydon TJ. 2015. Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel. B M C Nephrology. 16(1):217. https://doi.org/10.1186/s12882-015-0213-3

Olsen RKJ, Cornelius N, Gregersen N. 2015. Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism. Journal of Inherited Metabolic Disease. https://doi.org/10.1007/s10545-015-9861-5

Bross P 2015. The Hsp60 Chaperonin. Springer International Publishing Switzerland. (SpringerBriefs in Molecular Science).

Bie AS. 2015. The mitochondrial chaperonin complex Hsp60/Hsp10: Identification of Hsp60 client proteins and investigations of a mutation in HSPE1. Health, Aarhus University.

Britze A , Palmfeldt J , Gregersen N , Ovesen T. 2014. 44-plex cytokine profile of cholesteatoma. Acta Oto-Laryngologica. 134(1):41-50. https://doi.org/10.3109/00016489.2013.844360

Sibbersen C , Lykke L , Gregersen N , Jørgensen KA , Johannsen M. 2014. A cleavable azide resin for direct click chemistry mediated enrichment of alkyne-labeled proteins. Chemical Communications. 50(81):12098-12100. https://doi.org/10.1039/c4cc05246c

Bross P , Bie AS. 2014. A complex phenotype including infantile spasms and the developmental delay is associated with heterozygosity for a mutation in the mitochondrial co-chaperone Hsp10. Poster session presented at Euromit 2014, Tampere, Finland.

Skott M , Nørregaard R, Birke-Sørensen H, Palmfeldt J, Kwon T-H, Frøkiaer J, Nielsen S. 2014. Acute kidney injury in rats with or without pre-existing chronic kidney disease: cytokine/chemokine response. Nephrology. 19(7):410-9. https://doi.org/10.1111/nep.12263

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.

Displaying results 151 to 200 out of 465

Revised 11.09.2025

Helle Just

Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

Publications