• 1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans 

  Sønderby, Ida Elken; van der Meer, Dennis; Moreau, Clara; Kaufmann, Tobias; Walters, G. Bragi; Ellegaard, Maria; Abdellaoui, Abdel; Ames, David; Amunts, Katrin; Andersson, Micael; Armstrong, Nicola J.; Bernard, Manon; Blackburn, Nicholas B.; Blangero, John; Boomsma, Dorret I.; Brodaty, Henry; Brouwer, Rachel M.; Bülow, Robin; Bøen, Rune; Cahn, Wiepke; Calhoun, Vince D.; Caspers, Svenja; Ching, Christopher R. K.; Cichon, Sven; Ciufolini, Simone; Crespo-Facorro, Benedicto; Curran, Joanne E.; Dale, Anders M.; Dalvie, Shareefa; Dazzan, Paola; de Geus, Eco J. C.; Zubicaray, Greig I. de; Zwarte, Sonja M. C. de; Desrivieres, Sylvane; Doherty, Joanne L.; Donohoe, Gary; Draganski, Bogdan; Ehrlich, Stefan; Eising, Else; Espeseth, Thomas; Fejgin, Kim; Fisher, Simon E.; Fladby, Tormod; Frei, Oleksandr; Frouin, Vincent; Fukunaga, Masaki; Gareau, Thomas; Ge, Tian; Glahn, David C.; Grabe, Hans J.; Groenewold, Nynke A.; Gustafsson, Omar; Haavik, Jan; Haberg, Asta Kristine; Hall, Jeremy; Hashimoto, Ryota; Hehir-Kwa, Jayne Y.; Hibar, Derrek P.; Hillegers, Manon H. J.; Hoffmann, Per; Holleran, Laurena; Holmes, Avram J.; Johansson, Stefan; Jönsson, Erik Gunnar; Hellard, Stephanie Francoise Claire Le; Lundervold, Arvid; Lundervold, Astri J.; Moberget, Torgeir; Nordvik, Jan Egil; Sando, Sigrid Botne; Steen, Vidar Martin; Tamnes, Christian Krog; Agartz, Ingrid; Djurovic, Srdjan; Westlye, Lars Tjelta; Andreassen, Ole; Homuth, Georg; Hottenga, Jouke-Jan; Hulshoff Pol, Hilleke E.; Ikeda, Masashi; Jahanshad, Neda; Jockwitz, Christiane; Jørgensen, Niklas R.; Kikuchi, Masataka; Knowles, Emma E. M.; Kumar, Kuldeep; Leu, Costin; Linden, David E. J.; Liu, Jingyu; Maillard, Anne M.; Martin, Nicholas G.; Martin-Brevet, Sandra; Mather, Karen A.; Mathias, Samuel R.; McMahon, Katie L.; McRae, Allan F.; Medland, Sarah E.; Meyer-Lindenberg, Andreas; Modenato, Claudia; Monereo Sánchez, Jennifer; Morris, Derek W.; Mühleisen, Thomas W.; Murray, Robin M.; Nielsen, Jacob; Nyberg, Lars; Olde Loohuis, Loes M.; Ophoff, Roel A.; Owen, Michael J.; Paus, Tomas; Pausova, Zdenka; Peralta, Juan M.; Pike, G. Bruce; Prieto, Carlos; Quinlan, Erin B.; Reinbold, Céline S.; Reis Marques, Tiago; Rucker, James J. H.; Sachdev, Perminder S.; Schofield, Peter R.; Schork, Andrew J.; Schumann, Gunter; Shin, Jean; Shumskaya, Elena; Silva, Ana I.; Sisodiya, Sanjay M.; Stein, Dan J.; Strike, Lachlan T.; Suzuki, Ikuo K.; Teumer, Alexander; Thalamuthu, Anbupalam; Tordesillas-Gutiérrez, Diana; Uhlmann, Anne; Ulfarsson, Magnus O.; van ‘t Ent, Dennis; van den Bree, Marianne B. M.; Vanderhaeghen, Pierre; Vassos, Evangelos; Wen, Wei; Wittfeld, Katharina; Wright, Margaret J.; Stefansson, Hreinn; Stefansson, Kari; Jacquemont, Sébastien; Thompson, Paul M. (Journal article; Peer reviewed, 2021)

  Low-frequency 1q21.1 distal deletion and duplication copy number variant (CNV) carriers are predisposed to multiple neurodevelopmental disorders, including schizophrenia, autism and intellectual disability. Human carriers ...

• Role of integrin α11β1 in breast cancer 

  Smeland, Hilde Ytre-Hauge (Doctoral thesis, 2021-09-24)

  Breast cancer cells are strongly influenced by a complex tumor microenvironment comprised of a diversity of stromal cells, including a heterogeneous population of cancer associated fibroblasts (CAFs), in addition to the ...

• Structural and biochemical characterization of Malaria parasites 

  Lopez Moreno, Andrea Johana (Doctoral thesis, 2021-09-17)

  The Apicomplexa phylum includes more than 6000 species, and some of them are pathogens of humans and animals of socio-economic importance. The most representative parasites are Plasmodium spp. and Toxoplasma gondii. ...

• Regulatory post-translational modifications and protein-protein interactions involved in function and proteostasis of aromatic amino acid hydroxylases 

  K C, Kunwar Jung (Doctoral thesis, 2021-09-16)

  The non-heme iron and (6R)-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) dependent aromatic amino acid hydroxylases (AAAHs) family of enzymes include phenylalanine hydroxylase (PAH), tyrosine hydroxylase (TH), and tryptophan ...

• The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase 

  Aubi Catevilla, Oscar; Prestegård, Karina Skjervheim; K C, Kunwar Jung; Shi, Tie-Jun; Ying, Ming; Grindheim, Ann Kari; Scherer, Tanja; Ulvik, Arve; McCann, Adrian; Spriet, Endy; Thöny, Beat; Martinez, Aurora (Journal article; Peer reviewed, 2021)

  Phenylketonuria (PKU) is caused by autosomal recessive variants in phenylalanine hydroxylase (PAH), leading to systemic accumulation of L-phenylalanine (L-Phe) that may reach neurotoxic levels. A homozygous Pah-R261Q mouse, ...

• Instability in NAD+ metabolism leads to impaired cardiac mitochondrial function and communication 

  Lauritzen, Knut H.; Olsen, Maria Belland; Ahmed, Mohammed Shakil; Yang, Kuan; Rinholm, Johanne Egge; Bergersen, Linda H.; Esbensen, Qin Ying; Sverkeli, Lars Jansen; Ziegler, Mathias; Attramadal, Håvard; Halvorsen, Bente; Aukrust, Pål; Yndestad, Arne (Journal article; Peer reviewed, 2021)

  Poly(ADP-ribose) polymerase (PARP) enzymes initiate (mt)DNA repair mechanisms and use nicotinamide adenine dinucleotide (NAD+) as energy source. Prolonged PARP activity can drain cellular NAD+ reserves, leading to de-regulation ...

• RNA sequencing and proteomic profiling reveal different alterations by dietary methylmercury in the hippocampal transcriptome and proteome in BALB/c mice 

  Mellingen, Ragnhild Marie; Myrmel, Lene Secher; Lie, Kai Kristoffer; Rasinger, Josef; Madsen, Lise; Nøstbakken, Ole Jakob (Journal article; Peer reviewed, 2021)

  Methylmercury (MeHg) is a highly neurotoxic form of mercury (Hg) present in seafood. Here, we recorded and compared proteomic and transcriptomic changes in hippocampus of male BALB/c mice exposed to two doses of MeHg. Mice ...

• Different glutamate sources and endogenous co-agonists activate extrasynaptic NMDA receptors on amacrine cells of the rod pathway microcircuit 

  Beltran Matas, Pablo; Hartveit, Espen; Veruki, Margaret Lin (Journal article; Peer reviewed, 2021)

  The NMDA receptors (NMDARs) expressed by AII and A17 amacrine cells, the two main inhibitory interneurons of the rod pathway microcircuit in the mammalian retina, are exclusively extrasynaptic, activated by ambient levels ...

• Characterization of porphobilinogen deaminase mutants reveals that arginine-173 is crucial for polypyrrole elongation mechanism 

  Bustad, Helene J.; Kallio, Juha Pekka; Laitaoja, Mikko; Toska, Karen; Kursula, Inari; Martinez, Aurora; Jänis, Janne (Journal article; Peer reviewed, 2021)

  Porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis, catalyzes the sequential coupling of four porphobilinogen (PBG) molecules into a heme precursor. Mutations in PBGD are associated with acute ...

• Metformin treatment response is dependent on glucose growth conditions and metabolic phenotype in colorectal cancer cells 

  Alhourani, Abdelnour H.; Tidwell, Tia R.; Bokil, Ansooya Avinash; Røsland, Gro V.; Tronstad, Karl Johan; Søreide, Kjetil; Hagland, Hanne R. (Journal article; Peer reviewed, 2021)

  Cancer cells exhibit altered metabolism, a phenomenon described a century ago by Otto Warburg. However, metabolic drug targeting is considered an underutilized and poorly understood area of cancer therapy. Metformin, a ...

• Diet quality, stress and common mental health problems: A cohort study of 121,008 adults 

  Schweren, Lizanne J.S.; Larsson, Henrik; Vinke, Petra C.; Li, Lin; Kvalvik, Liv Grimstvedt; Arias-Vasquez, Alejandro; Haavik, Jan; Hartman, Catharina A. (Journal article; Peer reviewed, 2021)

  Background & aims Overall diet quality may partially mediate the detrimental effects of stress and neuroticism on common mental health problems: stressed and/or neurotic individuals may be more prone to unhealthy dietary ...

• Attention-deficit/hyperactivity disorder symptoms and dietary habits in adulthood: A large population-based twin study in Sweden 

  Li, Lin; Taylor, Mark J.; Bälter, Katarina; Kuja-Halkola, Ralf; Chen, Qi; Hegvik, Tor-Arne; Tate, Ashley E.; Chang, Zheng; Arias-Vasquez, Alejandro; Hartman, Catharina A.; Larsson, Henrik (Journal article; Peer reviewed, 2020)

  Associations between adult attention-deficit/hyperactivity disorder (ADHD) symptoms and dietary habits have not been well established and the underlying mechanisms remain unclear. We explored these associations using a ...

• G Protein-Gated Inwardly Rectifying Potassium Channel Subunit 3 Is Upregulated in Rat DRGs and Spinal Cord After Peripheral Nerve Injury 

  Lyu, Chuang; Lyu, Gong-Wei; Mulder, Jan; Martinez, Aurora; Shi, Tie-Jun (Journal article; Peer reviewed, 2020)

  Background: G protein-gated inwardly rectifying potassium (GIRK) channels are involved in the regulation of neuronal excitability. Four GIRK subunits (GIRK1-4) are expressed in rat dorsal root ganglia (DRGs). Recently, we ...

• Inhibition of Tryptophan Hydroxylases and Monoamine Oxidase-A by the Proton Pump Inhibitor, Omeprazole—In Vitro and In Vivo Investigations 

  Betari, Nibal; Sahlholm, Kristoffer; Morató, Xavier; Godoy-Marín, Héctor; Jáuregui, Olga; Teigen, Knut; Ciruela, Francisco; Haavik, Jan (Journal article; Peer reviewed, 2020)

  Serotonin (5-HT) is a hormone and neurotransmitter that modulates neural activity as well as a wide range of other physiological processes including cardiovascular function, bowel motility, and platelet aggregation. 5-HT ...

• Lack of collagen XVIII leads to lipodystrophy and perturbs hepatic glucose and lipid homeostasis 

  Petäistö, Tiina; Vicente, David; Mäkelä, Kari A; Finnilä, Mikko A; Miinalainen, Ilkka; Koivunen, Jarkko; Izzi, Valerio; Aikio, Mari; Karppinen, Sanna-Maria; Davarajan, Raman; Thevenot, Jerome; Herzig, Karl-Heinz; Heljasvaara, Ritva Leena; Pihlajaniemi, Taina (Journal article; Peer reviewed, 2020)

  Liver and adipose tissues play important roles in the regulation of systemic glucose and lipid metabolism. Extracellular matrix synthesis and remodelling are significantly altered in these tissues in obesity and type 2 ...

• Cerebrospinal fluid proteome shows disrupted neuronal development in multiple sclerosis 

  Mosleth, Ellen Færgestad; Vedeler, Christian Alexander; Liland, Kristian Hovde; McLeod, Anette; Bringeland, Gerd Haga; Kroondijk, Liesbeth; Berven, Frode Steingrimsen; Lysenko, Artem; Rawlings, Christopher J.; El-Hajj Eid, Karim; Opsahl, Jill Anette; Gjertsen, Bjørn Tore; Myhr, Kjell-Morten; Gavasso, Sonia (Journal article; Peer reviewed, 2021-02-18)

  Despite intensive research, the aetiology of multiple sclerosis (MS) remains unknown. Cerebrospinal fluid proteomics has the potential to reveal mechanisms of MS pathogenesis, but analyses must account for disease ...

• Editorial: Golgi Dynamics in Physiological and Pathological Conditions 

  Prydz, Kristian; Lupashin, Vladimir; Wang, Yanzhuang; Saraste, Jaakko (Journal article; Peer reviewed, 2020-01-29)

• 2D and 3D U-Nets for skull stripping in a large and heterogeneous set of head MRI using fastai 

  Kaliyugarasan, Satheshkumar; Kocinski, Marek; Lundervold, Arvid; Lundervold, Alexander Selvikvåg (Journal article, 2020)

  Skull stripping in brain imaging is the removal of the parts of images corresponding to non-brain tissue. Fast and accurate skull stripping is a crucial step for numerous medical brain imaging applications, e.g. registration, ...

• Ursodeoxycholic Acid Inhibits Glioblastoma Progression via Endoplasmic Reticulum Stress Related Apoptosis and Synergizes with the Proteasome Inhibitor Bortezomib 

  Yao, Zhong; Zhang, Xun; Zhao, Feihu; Wang, Shuai; Chen, Anjing; Huang, Bin; Wang, Jian; Li, Xingang (Journal article; Peer reviewed, 2020)

  Ursodeoxycholic acid (UDCA) has demonstrated cancer suppressive potential in several tumors. Here, we investigated the antitumor potential and biochemical mechanism of UDCA on glioblastoma multiforme (GBM), the deadliest ...

• Glioblastoma organoids: pre-clinical applications and challenges in the context of immunotherapy 

  Klein, Eliane; Hau, Ann-Christin; Oudin, Anaïs; Golebiewska, Anna; Niclou, Simone Pierrette (Journal article; Peer reviewed, 2020-12-08)

  Malignant brain tumors remain uniformly fatal, even with the best-to-date treatment. For Glioblastoma (GBM), the most severe form of brain cancer in adults, the median overall survival is roughly over a year. New therapeutic ...

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