Niels Gregersen

2023

Odd- and even-numbered medium-chained fatty acids protect against glutathione depletion in very long-chain acyl-CoA dehydrogenase deficiency

Lund, M., Heaton, R., Hargreaves, I. P., Gregersen, N. & Olsen, R. K. J., Feb 2023, In: Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids. 1868, 2, 159248.

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5 Citations (Scopus)

6 Downloads (Pure)

2021

Bezafibrate activation of PPAR drives disturbances in mitochondrial redox bioenergetics and decreases the viability of cells from patients with VLCAD deficiency

Lund, M., Andersen, K. G., Heaton, R., Hargreaves, I. P., Gregersen, N. & Olsen, R. K. J., 1 Jun 2021, In: B B A - Molecular Basis of Disease. 1867, 6, 14 p., 166100.

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Open Access

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7 Citations (Scopus)

46 Downloads (Pure)

Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study

Fernandez-Guerra, P., Gonzalez-Ebsen, A. C., Boonen, S. E., Courraud, J., Gregersen, N., Mehlsen, J., Palmfeldt, J., Olsen, R. K. J. & Brinth, L. S., Jul 2021, In: Biomolecules. 11, 7, 20 p., 961.

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Open Access

19 Citations (Scopus)

Use of molecular genetic analyses in danish routine newborn screening

Lund, A. M., Wibrand, F., Skogstrand, K., Bækvad-Hansen, M., Gregersen, N., Andresen, B. S., Hougaard, D. M., Dunø, M. & Olsen, R. K. J., Sept 2021, In: International Journal of Neonatal Screening. 7, 3, 50.

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Open Access

15 Citations (Scopus)

Variants in the Ethylmalonyl-CoA Decarboxylase (ECHDC1) Gene; a Novel Player in Ethylmalonic Aciduria?

Fogh, S., Dipace, G., Bie, A., Veiga-da-Cunha, M., Hansen, J., Kjeldsen, M., Mosegaard, S., Ribes, A., Gregersen, N., Aagaard, L., Schaftingen, E. V. & Olsen, R. K. J., Sept 2021, In: Journal of Inherited Metabolic Disease. 44, 5, p. 1215-1225 11 p.

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Open Access

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3 Citations (Scopus)

59 Downloads (Pure)

2020

Danish expanded newborn screening is a successful preventive public health programme

Lund, A., Wibrand, F., Skogstrand, K., Cohen, A., Christensen, M., Jäpelt, R. B., Dunø, M., Skovby, F., Nørgaard-Pedersen, B., Gregersen, N., Andresen, B. S., Olsen, R. K. J. & Hougaard, D., Jan 2020, In: Danish Medical Journal. 67, 1, A06190341.

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15 Citations (Scopus)

Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role?

Nochi, Z., Birkler, R. I. D., Fernandez-Guerra, P., Hansen, J., Wibrand, F., Corydon, T. J., Gregersen, N. & Olsen, R. K. J., Oct 2020, In: Pediatric Research. 88, 4, p. 556-564 9 p.

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5 Citations (Scopus)

Riboflavin deficiency—implications for general human health and inborn errors of metabolism

Mosegaard, S., Dipace, G., Bross, P., Carlsen, J., Gregersen, N. & Olsen, R. K. J., Jun 2020, In: International Journal of Molecular Sciences . 21, 11, 3847.

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Open Access

133 Citations (Scopus)

2019

Mitochondrial fatty acid oxidation and the electron transport chain comprise a multifunctional mitochondrial protein complex

Wang, Y., Palmfeldt, J., Gregersen, N., Makhov, A. M., Conway, J. F., Wang, M., McCalley, S. P., Basu, S., Alharbi, H., St Croix, C., Calderon, M. J., Watkins, S. & Vockley, J., 16 Aug 2019, In: Journal of Biological Chemistry. 294, 33, p. 12380-12391 12 p.

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Open Access

86 Citations (Scopus)

Myalgisk encefalomyelitis eller kronisk træthedssyndrom

Translated title of the contribution: Myalgic encephalomyelitis or chronic fatigue syndromeBrinth, L., Nielsen, H., Varming, K., Boonen, S. E., Ebsen, A. C. G., Fernández-Guerra, P., Schou, A. S., Mehlsen, J., Gregersen, N., Brandslund, I. & Olsen, R. K. J., 10 Jun 2019, In: Ugeskrift for Læger. 181, 24, 4 p., V08180570.

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4 Citations (Scopus)

Psykologiske, neurologiske og cellulære virkningsmekanismer ved mindfulnesstræning

Translated title of the contribution: Psychological, neurological and cell-mediated mechanisms by mindfulness-based therapyBoutrup, R. J., Jørgensen, M. M., Gregersen, N., Frost, L., Aagaard, H., Djernis, D., van der Velden, A. M. & Dahlgaard, J., Jul 2019, In: Ugeskrift for Læger. 181, p. 1-4 4 p., V11180784.

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1 Citation (Scopus)

2018

A Novel Synonymous Variant in the AVP Gene Associated with Autosomal Dominant Familial Neurohypophyseal Diabetes Insipidus Causes Partial RNA Missplicing

Kvistgaard, H., Christensen, J. H., Johansson, J.-O., Gregersen, N., Siggaard Rittig, C., Rittig, S. & Corydon, T. J., 2018, In: Neuroendocrinology. 107, 2, p. 167-180 14 p.

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Biomarker Discovery by Mass Spectrometry in Cerebrospinal Fluid and Plasma after Global Hypoxia-Ischemia in Newborn Piglets

Kyng, K. J., Edhager, A. V., Henriksen, T. B., Swan, C. Z., Gregersen, N. & Palmfeldt, J., 1 Nov 2018, In: Neonatology. 114, 4, p. 307-314 8 p.

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5 Citations (Scopus)

Mindfulness, Health, and Longevity

Dahlgaard, J., Jørgensen, M. M., van der Velden, A. M., Sumbundu , A., Gregersen, N., Olsen, R. K. J. & Mehlsen, M. Y., 29 Oct 2018, The Science of Hormesis in Health and Longevity. Rattan, S. I. S. & Kyriazis, M. (eds.). Academic Press, p. 243-255 13 p.

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7 Citations (Scopus)

Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus

Joshi, S., Kvistgaard, H., Kamperis, K., Færch, M., Hagstrøm, S., Gregersen, N., Rittig, S. & Christensen, J. H., Sept 2018, In: European Journal of Pediatrics. 177, 9, p. 1399-1405 7 p.

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17 Citations (Scopus)

The Novel Ser18del AVP Variant Causes Inherited Neurohypophyseal Diabetes Insipidus by Mechanisms Shared with Other Signal Peptide Variants

Toustrup, L. B., Kvistgaard, H., Palmfeldt, J., Bjerre, C. K., Gregersen, N., Rittig, S., Corydon, T. J. & Christensen, J. H., Feb 2018, In: Neuroendocrinology. 106, 2, p. 167–186 20 p.

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14 Citations (Scopus)

2017

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Mosegaard, S., Bruun, G. H., Flyvbjerg, K. F., Bliksrud, Y. T., Gregersen, N., Dembic, M., Annexstad, E., Tangeraas, T., Olsen, R. K. J. & Andresen, B. S., Dec 2017, In: Molecular Genetics and Metabolism. 122, 4, p. 182-188 7 p.

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49 Citations (Scopus)

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants

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., Lamireau, D., Barth, M., Minot-Myhié, M.-C., Kuster, A., de Lonlay, P., Gregersen, N., Acquaviva, C., Vianey-Saban, C. & Vamecq, J., Aug 2017, In: Clinica chimica acta; international journal of clinical chemistry. 471, p. 101-106 6 p.

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12 Citations (Scopus)

Induced pluripotent stem cells derived from a patient with autosomal dominant familial neurohypophyseal diabetes insipidus caused by a variant in the AVP gene

Toustrup, L. B., Zhou, Y., Kvistgaard, H., Gregersen, N., Rittig, S., Aagaard, L., Corydon, T. J., Luo, Y. & Christensen, J. H., Mar 2017, In: Stem Cell Research. 19, p. 37-42 6 p.

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2 Citations (Scopus)

Ketone Body Acetoacetate Buffers Methylglyoxal via a Non-enzymatic Conversion during Diabetic and Dietary Ketosis

Salomon, T., Sibbersen, C., Hansen, J., Britz, D. H., Svart, M., Voss, T. S., Møller, N., Gregersen, N., Jørgensen, K. A., Palmfeldt, J., Poulsen, T. & Johannsen, M., 17 Aug 2017, In: Cell Chemical Biology. 24, 8, p. 935-943 9 p.

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33 Citations (Scopus)

Linking telomere loss and mitochondrial dysfunction in chronic disease

Gonzalez-Ebsen, A. C., Gregersen, N. & Olsen, R. K., 1 Jan 2017, In: Frontiers in Bioscience. 22, 1, p. 117-127 11 p.

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26 Citations (Scopus)

Mitochondrial Spare Respiratory Capacity Is Negatively Correlated With Nuclear Reprogramming Efficiency

Zhou, Y., Al-Saaidi, R. A., Guerra, P. F., Freude, K. K., Olsen, R. K. J., Jensen, U. B., Gregersen, N., Hyttel, P., Bolund, L., Aagaard, L., Bross, P. & Luo, Y., 1 Feb 2017, In: Stem Cells and Development. 26, 3, p. 166-176 11 p.

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19 Citations (Scopus)

Novel de novo AVPR2 Variant in a Patient with Congenital Nephrogenic Diabetes Insipidus

Joshi, S., Brandström, P., Gregersen, N., Rittig, S. & Christensen, J. H., 27 Sept 2017, In: Case Reports in Nephrology and Dialysis. 7, 3, p. 130-137 8 p.

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Open Access

5 Citations (Scopus)

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms

Nochi, Z., Olsen, R. K. J. & Gregersen, N., 1 Sept 2017, In: Journal of Inherited Metabolic Disease. 40, 5, p. 641-655 15 p.

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44 Citations (Scopus)

2016

A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome

Breinbjerg, A., Rittig, C. S., Gregersen, N., Rittig, S. & Christensen, J. H., 2016, In: Acta paediatrica (Oslo, Norway : 1992).

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3 Citations (Scopus)

Fasting induces prominent proteomic changes in liver in very long chain Acyl-CoA dehydrogenase deficient mice

Wang, W., Palmfeldt, J., Mohsen, A. W., Gregersen, N. & Vockley, J., 1 Dec 2016, In: Biochemistry and Biophysics Reports. 8, p. 333-339 7 p.

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Open Access

11 Citations (Scopus)

Identification of the BRD1 interaction network and its impact on mental disorder risk

Fryland, T., Christensen, J. H., Pallesen, J., Mattheisen, M., Palmfeldt, J., Bak, M., Grove, J., Demontis, D., Blechingberg, J., Ooi, H. S., Nyegaard, M., Hauberg, M. E., Tommerup, N., Gregersen, N., Mors, O., Corydon, T. J., Nielsen, A. L. & Børglum, A. D., 3 May 2016, In: Genome Medicine. 8, 1, p. 53

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaper › Journal article › Research › peer-review

27 Citations (Scopus)

Investigation of the disease mechanisms of Short-Chain Acyl-CoA Dehydrogenase deficiency by biallelic knockout using CRISPR/Cas9

Fogh, S., Olsen, R. K. J., Gregersen, N. & Aagaard, L., 22 Sept 2016.

Research output: Contribution to conference › Poster › Research

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency

Sahebekhtiari, N., Thomsen, M. M., Sloth, J. J., Stenbroen, V., Zeviani, M., Gregersen, N., Viscomi, C. & Palmfeldt, J., 1 Apr 2016, In: Proteomics. 16, 7, p. 1166-1176 11 p.

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13 Citations (Scopus)

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

Olsen, R. K. J., Koňaříková, E., Giancaspero, T. A., Mosegaard, S., Boczonadi, V., Mataković, L., Veauville-Merllié, A., Terrile, C., Schwarzmayr, T., Haack, T. B., Auranen, M., Leone, P., Galluccio, M., Imbard, A., Gutierrez-Rios, P., Palmfeldt, J., Graf, E., Vianey-Saban, C., Oppenheim, M. & Schiff, M. & 28 others, Pichard, S., Rigal, O., Pyle, A., Chinnery, P. F., Konstantopoulou, V., Möslinger, D., Feichtinger, R. G., Talim, B., Topaloglu, H., Coskun, T., Gucer, S., Botta, A., Pegoraro, E., Malena, A., Vergani, L., Mazzà, D., Zollino, M., Ghezzi, D., Acquaviva, C., Tyni, T., Boneh, A., Meitinger, T., Strom, T. M., Gregersen, N., Mayr, J. A., Horvath, R., Barile, M. & Prokisch, H., 2 Jun 2016, In: American Journal of Human Genetics. 98, 6, p. 1130-45 16 p.

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119 Citations (Scopus)

Selected reaction monitoring mass spectrometry for relative quantification of proteins involved in cellular life and death processes

Birkler, R. I. D., Nochi, Z., Gregersen, N. & Palmfeldt, J., 23 Sept 2016, In: Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences. 1035, p. 49-56 8 p.

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4 Citations (Scopus)

2015

Application of an Image Cytometry Protocol for Cellular and Mitochondrial Phenotyping on Fibroblasts from Patients with Inherited Disorders

Fernandez-Guerra, P., Lund, M., Corydon, T. J., Cornelius, N., Gregersen, N., Palmfeldt, J. & Bross, P., 25 Sept 2015, In: JIMD Reports .

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4 Citations (Scopus)

A short introduction to acyl-CoA dehydrogenases; deficiencies and novel treatment strategies

Lund, M., Olsen, R. K. J. & Gregersen, N., 24 Sept 2015, In: Expert Opinion on Orphan Drugs. 3, 12, p. 1375-1386

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5 Citations (Scopus)

Characterizing the Molecular Architecture of Mitochondrial Energy Metabolism

Wang, Y., Palmfeldt, J., Gregersen, N. & Vockley, J., 4 Sept 2015.

Research output: Contribution to conference › Poster › Research › peer-review

CoQ10 as a modulator of mitochondrial dysfunction and maladaptive stress responses in chronic fatigue syndrome

Søes, S., Brinth, L., Gregersen, N. & Olsen, R. K. J., 2015, Coenzyme Q10: from fact to fiction: Cell Biology Research Progress. Nova Science Publishers

Research output: Contribution to book/anthology/report/proceeding › Book chapter › Research › peer-review

Genetic Variants in NPHS1, NPHS2 and INF2 in Patients with Primary Focal Segmental Glomerulosclerosis in Denmark.

Joshi, S., Andersen, R. F., Jespersen, B., Rasmussen, M., Madsen, L. B., Hansen, A., Nagaraj, S., Kjeldsen, M., Olsen, R. K. J., Gregersen, N. & Rittig, S., 2015.

Research output: Contribution to conference › Poster › Research › peer-review

Novel de novo AVPR2 mutation causing CNDI in Swedish patient

Joshi, S., Gregersen, N., Christensen, J. H., Rittig, S. & Brandstrom, P., 2015.

Research output: Contribution to conference › Poster › Research › peer-review

Novel plasma and CSF biomarkers of hypoxic-ischemic encephalopathy identified by mass spectrometry

Kyng, K. J., Edhager, A. V., Andreassen, C. S., Henriksen, T. B., Gregersen, N. & Palmfeldt, J., 16 Sept 2015.

Research output: Contribution to conference › Conference abstract for conference › Research › peer-review

Partial nephrogenic diabetes insipidus caused by a novel AQP2 variation impairing trafficking of the aquaporin-2 water channel

Dollerup, P., Thomsen, T. M., Nejsum, L. N., Færch, M., Österbrand, M., Gregersen, N., Rittig, S., Christensen, J. H. & Corydon, T. J., 29 Dec 2015, In: B M C Nephrology. 16, 1, p. 217

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13 Citations (Scopus)

Redox signalling and mitochondrial stress responses; lessons from inborn errors of metabolism

Olsen, R. K. J., Cornelius, N. & Gregersen, N., 30 May 2015, In: Journal of Inherited Metabolic Disease.

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67 Citations (Scopus)

2014

44-plex cytokine profile of cholesteatoma

Britze, A., Palmfeldt, J., Gregersen, N. & Ovesen, T., Jan 2014, In: Acta Oto-Laryngologica. 134, 1, p. 41-50 10 p.

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5 Citations (Scopus)

A cleavable azide resin for direct click chemistry mediated enrichment of alkyne-labeled proteins

Sibbersen, C., Lykke, L., Gregersen, N., Jørgensen, K. A. & Johannsen, M., 2014, In: Chemical Communications. 50, 81, p. 12098-12100

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19 Citations (Scopus)

APPROACHES TO DECIPHERING THE BALANCE BETWEEN SURVIVAL AND DEATH MECHANISMS IN CELLS WITH MITOCHONDRIAL DYSFUNCTION

Nochi, Z., Andreasen, C., Corydon, T. J. & Gregersen, N., 2014.

Research output: Contribution to conference › Poster › Communication

APPROACHES TO DECIPHERING THE BALANCE BETWEEN SURVIVAL AND DEATH MECHANISMS IN CELLS WITH MITOCHONDRIAL DYSFUNCTION

Nochi, Z. & Gregersen, N., 2014.

Research output: Contribution to conference › Poster › Communication

Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts

Cornelius, N., Corydon, T. J., Gregersen, N. & Olsen, R. K. J., 15 Apr 2014, In: Human Molecular Genetics.

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33 Citations (Scopus)

Characteristics of human infant primary fibroblast cultures from Achilles tendons removed post-mortem

Rohde, M. C., Corydon, T. J., Hansen, J., Pedersen, C. B., Schmidt, S. P., Gregersen, N. & Banner, J., 2014, In: Forensic Science International. 234, p. 149-53 5 p.

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2 Citations (Scopus)

Large-scale proteomics differentiates cholesteatoma from surrounding tissues and identifies novel proteins related to the pathogenesis

Britze, A., Birkler, R. I. D., Gregersen, N., Ovesen, T. & Palmfeldt, J., 5 Aug 2014, In: PLOS ONE. 9, 8, p. e104103

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12 Citations (Scopus)

Mitochondrial bioenergetics deregulation caused by long-chain 3-hydroxy fatty acids accumulating in LCHAD and MTP deficiencies in rat brain: A possible role of mPTP opening as a pathomechanism in these disorders?

Tonin, A. M., Amaral, A. U., Busanello, E. N., Gasparotto, J., Gelain, D. P., Gregersen, N. & Wajner, M., 16 Jun 2014, In: BBA General Subjects.

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26 Citations (Scopus)

MITOCHONDRIAL PROTEOME CHANGES IN ETHE1- DEFICIENT MICE: INDICATION OF METABOLIC IMBALANCE

Sahebekhtiari, N., Bross, P., Gregersen, N. & Palmfeldt, J., 2014.

Research output: Contribution to conference › Poster › Communication

Oxidative stress and mitochondrial defect in neuromuscular disorders: source or symptoms?

Cornelius, N., Gregersen, N., Tümer, Z. & Olsen, R. K. J., 2014, Oxidative Stress: Causes, Role in Diseases and Biological Effects. Nova Publishers

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1 Citation (Scopus)

Niels Gregersen

Research output

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