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

por Olsen, Rikke K. J., Cornelius, Nanna, Gregersen, Niels
Publicado 2015

Numerical metods in photonics

por Lavrinenko, Andrei V, Lægsgaard, Jesper, Gregersen, Niels, Schmidt, Frank, Søndergaard, Thomas
Publicado 2015

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

por Wang, Wei, Palmfeldt, Johan, Mohsen, Al-Walid, Gregersen, Niels, Vockley, Jerry
Publicado 2016

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

por Joshi, Shivani, Brandstrom, Per, Gregersen, Niels, Rittig, Søren, Christensen, Jane Hvarregaard
Publicado 2017

Vulnerability to Oxidative Stress In Vitro in Pathophysiology of Mitochondrial Short-Chain Acyl-CoA Dehydrogenase Deficiency: Response to Antioxidants

por Zolkipli, Zarazuela, Pedersen, Christina B., Lamhonwah, Anne-Marie, Gregersen, Niels, Tein, Ingrid
Publicado 2011

Large-Scale Proteomics Differentiates Cholesteatoma from Surrounding Tissues and Identifies Novel Proteins Related to the Pathogenesis

por Britze, Anders, Birkler, Rune Isak Dupont, Gregersen, Niels, Ovesen, Therese, Palmfeldt, Johan
Publicado 2014

Quantitative Proteomics Reveals Cellular Targets of Celastrol

por Hansen, Jakob, Palmfeldt, Johan, Vang, Søren, Corydon, Thomas J., Gregersen, Niels, Bross, Peter
Publicado 2011

Riboflavin Deficiency—Implications for General Human Health and Inborn Errors of Metabolism

por Mosegaard, Signe, Dipace, Graziana, Bross, Peter, Carlsen, Jasper, Gregersen, Niels, Olsen, Rikke Katrine Jentoft
Publicado 2020

Mitochondrial proteomics on human fibroblasts for identification of metabolic imbalance and cellular stress

por Palmfeldt, Johan, Vang, Søren, Stenbroen, Vibeke, Pedersen, Christina B, Christensen, Jane H, Bross, Peter, Gregersen, Niels
Publicado 2009

Selected reaction monitoring as an effective method for reliable quantification of disease-associated proteins in maple syrup urine disease

por Fernández-Guerra, Paula, Birkler, Rune I D, Merinero, Begoña, Ugarte, Magdalena, Gregersen, Niels, Rodríguez-Pombo, Pilar, Bross, Peter, Palmfeldt, Johan
Publicado 2014

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

por Dollerup, Pia, Thomsen, Troels Møller, Nejsum, Lene N., Færch, Mia, Österbrand, Martin, Gregersen, Niels, Rittig, Søren, Christensen, Jane H., Corydon, Thomas J.
Publicado 2015

Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules

por Larsen, Jan, Pettersson, Olof J, Jakobsen, Maria, Thomsen, Rune, Pedersen, Christina B, Hertz, Jens M, Gregersen, Niels, Corydon, Thomas J, Jensen, Thomas G
Publicado 2011

Use of Molecular Genetic Analyses in Danish Routine Newborn Screening

por Lund, Allan Meldgaard, Wibrand, Flemming, Skogstrand, Kristin, Bækvad-Hansen, Marie, Gregersen, Niels, Andresen, Brage Storstein, Hougaard, David M., Dunø, Morten, Olsen, Rikke Katrine Jentoft
Publicado 2021

Bright Quantum Dot Single-Photon Emitters at Telecom Bands Heterogeneously Integrated on Si

por Holewa, Paweł, Sakanas, Aurimas, Gür, Ugur M., Mrowiński, Paweł, Huck, Alexander, Wang, Bi-Ying, Musiał, Anna, Yvind, Kresten, Gregersen, Niels, Syperek, Marcin, Semenova, Elizaveta
Publicado 2022

Toxic response caused by a misfolding variant of the mitochondrial protein short-chain acyl-CoA dehydrogenase

por Schmidt, Stinne P., Corydon, Thomas J., Pedersen, Christina B., Vang, Søren, Palmfeldt, Johan, Stenbroen, Vibeke, Wanders, Ronald J. A., Ruiter, Jos P. N., Gregersen, Niels
Publicado 2010

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

por Fernandez-Guerra, Paula, Gonzalez-Ebsen, Ana C., Boonen, Susanne E., Courraud, Julie, Gregersen, Niels, Mehlsen, Jesper, Palmfeldt, Johan, Olsen, Rikke K. J., Brinth, Louise Schouborg
Publicado 2021

Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?

por Fogh, Sarah, Dipace, Graziana, Bie, Anne, Veiga‐da‐Cunha, Maria, Hansen, Jakob, Kjeldsen, Margrethe, Mosegaard, Signe, Ribes, Antonia, Gregersen, Niels, Aagaard, Lars, Van Schaftingen, Emile, Olsen, Rikke K. J.
Publicado 2021

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report

por Dessein, Anne-Frédérique, Fontaine, Monique, Andresen, Brage S, Gregersen, Niels, Brivet, Michèle, Rabier, Daniel, Napuri-Gouel, Silvia, Dobbelaere, Dries, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Briand, Gilbert, Millington, David S, Vianey-Saban, Christine, Wanders, Ronald JA, Vamecq, Joseph
Publicado 2010

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

por Fryland, Tue, Christensen, Jane H., Pallesen, Jonatan, Mattheisen, Manuel, Palmfeldt, Johan, Bak, Mads, Grove, Jakob, Demontis, Ditte, Blechingberg, Jenny, Ooi, Hong Sain, Nyegaard, Mette, Hauberg, Mads E., Tommerup, Niels, Gregersen, Niels, Mors, Ole, Corydon, Thomas J., Nielsen, Anders L., Børglum, Anders D.
Publicado 2016

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

por Olsen, Rikke K.J., Koňaříková, Eliška, Giancaspero, Teresa A., Mosegaard, Signe, Boczonadi, Veronika, Mataković, Lavinija, Veauville-Merllié, Alice, Terrile, Caterina, Schwarzmayr, Thomas, Haack, Tobias B., Auranen, Mari, Leone, Piero, Galluccio, Michele, Imbard, Apolline, Gutierrez-Rios, Purificacion, Palmfeldt, Johan, Graf, Elisabeth, Vianey-Saban, Christine, Oppenheim, Marcus, Schiff, Manuel, Pichard, Samia, Rigal, Odile, Pyle, Angela, Chinnery, Patrick F., Konstantopoulou, Vassiliki, Möslinger, Dorothea, Feichtinger, René G., Talim, Beril, Topaloglu, Haluk, Coskun, Turgay, Gucer, Safak, Botta, Annalisa, Pegoraro, Elena, Malena, Adriana, Vergani, Lodovica, Mazzà, Daniela, Zollino, Marcella, Ghezzi, Daniele, Acquaviva, Cecile, Tyni, Tiina, Boneh, Avihu, Meitinger, Thomas, Strom, Tim M., Gregersen, Niels, Mayr, Johannes A., Horvath, Rita, Barile, Maria, Prokisch, Holger
Publicado 2016