Publications

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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

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. F A S E B 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.

Nochi Z , Gregersen N. 2014. APPROACHES TO DECIPHERING THE BALANCE BETWEEN SURVIVAL AND DEATH MECHANISMS IN CELLS WITH MITOCHONDRIAL DYSFUNCTION. Poster session presented at Euromit 2014, Tampere, Finland.

Fernandez-Guerra P 2014. Cellular characterization of human dermal fibroblasts, focus on mitochondria and maple syrup urine disease: PhD dissertation. Master of Public health, Aarhus Universitet. 214 p.

Cornelius N , Corydon TJ , Gregersen N , Olsen RKJ. 2014. Cellular consequences of oxidative stress in riboflavin responsive multiple acyl-CoA dehydrogenation deficiency patient fibroblasts. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddu146

Rohde MC , Corydon TJ , Hansen J , Pedersen CB , Schmidt SP , Gregersen N , Banner J. 2014. Characteristics of human infant primary fibroblast cultures from Achilles tendons removed post-mortem. Forensic Science International. 234:149-53. https://doi.org/10.1016/j.forsciint.2013.11.007

Al-Saaidi R , Bross P. 2014. Do lamin A and lamin C have unique roles?. Chromosoma. https://doi.org/10.1007/s00412-014-0484-7

Al-Saaidi RA. 2014. Do lamin A and lamin C have unique roles?. Poster session presented at Gordon Research Conference, West Dover, United States.

Kristensen LS , Søes S , Hansen LL. 2014. ELMO3: a direct driver of cancer metastasis?. Cell Cycle. 13(16):2483-4. https://doi.org/10.4161/15384101.2014.947228

Henriques BJ, Lucas TG, Rodrigues JV, Frederiksen JH, Teixeira MS, Tiranti V, Bross P, Gomes CM. 2014. Ethylmalonic encephalopathy ETHE1 R163W/R163Q mutations alter protein stability and redox properties of the iron centre. PLOS ONE. 9(9):e107157. https://doi.org/10.1371/journal.pone.0107157

Britze A , Birkler RID , Gregersen N , Ovesen T , Palmfeldt J. 2014. Large-scale proteomics differentiates cholesteatoma from surrounding tissues and identifies novel proteins related to the pathogenesis. PLOS ONE. 9(8):e104103. https://doi.org/10.1371/journal.pone.0104103

Palmfeldt J , Fernandez-Guerra P , Birkler RID. 2014. Mass spectrometry protein quantification in maple syrup urine disease. [Pictures, Video and sound recordings (digital)].

Tonin AM, Amaral AU, Busanello EN, Gasparotto J, Gelain DP, Gregersen N, Wajner M. 2014. 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?. BBA General Subjects. https://doi.org/10.1016/j.bbadis.2014.06.011

Sahebekhtiari N , Bross P , Gregersen N , Palmfeldt J. 2014. MITOCHONDRIAL PROTEOME CHANGES IN ETHE1- DEFICIENT MICE: INDICATION OF METABOLIC IMBALANCE. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.

Cornelius N , Gregersen N, Tümer Z, Olsen RKJ. 2014. Oxidative stress and mitochondrial defect in neuromuscular disorders: source or symptoms?. In Oxidative Stress: Causes, Role in Diseases and Biological Effects. Nova Publishers.

Stødkilde-Jørgensen L , Palmfeldt J , Nilsson L , Carlsen IG , Wang Y , Nørregaard R , Frøkiær J. 2014. Proteomic identification of early changes in the renal cytoskeleton in obstructive uropathy. A J P: Renal Physiology (Online). 306(12). https://doi.org/10.1152/ajprenal.00244.2013

Edhager AV , Stenbroen V , Nielsen NS , Bross P , Olsen RKJ , Gregersen N , Palmfeldt J. 2014. Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency. Molecular Genetics and Metabolism. 111(3):360-368. https://doi.org/10.1016/j.ymgme.2014.01.007

Fernandez Guerra P , Birkler RID , Palmfeldt J , Bross P. 2014. PROTEOMICS AND CELLULAR OXIDATIVE STRESS STUDIES IN FIBROBLASTS FROM CLASSIC MAPLE SYRUP URINE DISEASE PATIENTS. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.

Fernández-Guerra P , Birkler RID, Merinero B, Ugarte M, Gregersen N, Rodríguez-Pombo P, Bross P , Palmfeldt J. 2014. Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease. Molecular Genetics & Genomic Medicine. 2(5):383-92. https://doi.org/10.1002/mgg3.88

Bie AS , Bross P. 2014. Substrates of the mitochondrial chaperonin Hsp60. Poster session presented at Euromit 2014, Tampere, Finland.

Mortensen MB , Kjolby M , Gunnersen S , Larsen JV , Palmfeldt J , Falk E , Nykjaer A , Bentzon JF. 2014. Targeting sortilin in immune cells reduces proinflammatory cytokines and atherosclerosis. Journal of Clinical Investigation. 124(12):5317-5322. https://doi.org/10.1172/JCI76002

Bie AS , Bross P , Corydon TJ. 2014. THE HSP60 SUBSTRATE SPECTRUM. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.

Al-Saaidi RA , Rasmussen TB , Palmfeldt J , Hansen J , Bross P. 2014. THE MISSENSE MUTATION P.ARG471HIS CAUSES DILATED CARDIOMYOPATHY THROUGH A DOMINANT NEGATIVE EFFECT. Poster session presented at Aarhus University Graduate School of Health, PhD Day 2014, Aarhus, Denmark.

Christensen JH , Kvistgaard H , Knudsen JH, Shaikh G, Tolmie J, Cooke S, Pedersen S , Corydon TJ , Gregersen N , Rittig S. 2013. A novel deletion partly removing the AVP gene causes autosomal recessive inheritance of early onset neurohypophyseal diabetes insipidus. Clinical Genetics. 83(1):44-52. https://doi.org/10.1111/j.1399-0004.2011.01833.x

Birkegaard C , Christensen JH, Falorni A, Marzotti S, Minarelli V, Gregersen N , Rittig S. 2013. A novel variation in the AVP gene resulting in familial neurohypophyseal diabetes insipidus in a large Italian kindred. Pituitary. 16(2):152-157. https://doi.org/10.1007/s11102-012-0392-x

Sibbersen C , Palmfeldt J , Hansen J , Gregersen N , Jørgensen KA , Johannsen M. 2013. Development of a chemical probe for identifying protein targets of α-oxoaldehydes. Chemical Communications. 49(38):4012-4. https://doi.org/10.1039/c3cc41099d

Madsen MG , Nørregaard R , Palmfeldt J , Olsen LH , Frøkiær J , Jørgensen TM. 2013. Epidermal growth factor and monocyte chemotactic peptide-1: Potential biomarkers of urinary tract obstruction in children with hydronephrosis. Journal of Pediatric Urology. 9(6 (Part A)):838–845. https://doi.org/10.1016/j.jpurol.2012.11.011

Tonin AM , Fernandez Guerra P , Cornelius N , Olsen R, Wajner M, Gregersen N. 2013. Evidence that fibroblasts from patients affected by medium-chain acyl-CoA dehydrogenase deficiency (MCADD) are under chronic ocidative stress. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.

Fernandez Guerra P , Palmfeldt J, Merinero B, Bross P, Rodriguez-Pombo P. 2013. Fibroblasts from Maple Syrup Urine Disease (MSUD) classic patients showed mitochondrial oxidative stress and protein damage. Poster session presented at 12th International Congress of Inborn Errors of Metabolism, Barcelona, Spain.

Displaying results 151 to 200 out of 438

Revised 10.01.2025

Helle Just

Department of Clinical Medicine

Research Unit for Molecular Medicine (MMF)

Publications