• 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, ...
    • The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1 

      Walter, Jonas; Bolognin, Silvia; Poovathingal, Suresh K.; Magni, Stefano; Gérard, Deborah; Antony, Paul M. A.; Nickels, Sarah L.; Salamanca, Luis; Berger, Emanuel; Smits, Lisa M.; Grzyb, Kamil; Perfeito, Rita; Hoel, Fredrik; Qing, Xiaobing; Ohnmacht, Jochen; Bertacchi, Michele; Jarazo, Javier; Ignac, Tomasz; Monzel, Anna S.; Gonzalez-Cano, Laura; Krüger, Rejko; Sauter, Thomas; Studer, Michèle; Pereira de Almeida, Luis; Tronstad, Karl Johan; Sinkkonen, Lasse; Skupin, Alexander; Schwamborn, Jens C. (Journal article; Peer reviewed, 2021)
      Increasing evidence suggests that neurodevelopmental alterations might contribute to increase the susceptibility to develop neurodegenerative diseases. We investigate the occurrence of developmental abnormalities in ...
    • Patient-derived organoids and orthotopic xenografts of primary and recurrent gliomas represent relevant patient avatars for precision oncology 

      Golebiewska, Anna; Hau, Ann-Christin; Oudin, Anaïs; Stieber, Daniel; Yabo, Yahaya A.; Baus, Virginie; Barthelemy, Vanessa; Klein, Eliane; Bougnaud, Sébastien; Keunen, Olivier; Wantz, May; Michelucci, Alessandro; Neirinckx, Virginie; Muller, Arnaud; Kaoma, Tony; Nazarov, Petr V.; Azuaje, Francisco; De Falco, Alfonso; Flies, Ben; Richart, Lorraine; Poovathingal, Suresh K; Arns, Thais; Grzyb, Kamil; Mock, Andreas; Herold-Mende, Christel; Steino, Anne; Brown, Dennis; May, Patrick; Miletic, Hrvoje; Malta, Tathiane M.; Noushmehr, Houtan; Kwon, Yong-Jun; Jahn, Winnie; Klink, Barbara; Tanner, Georgette; Stead, Lucy F.; Mittelbronn, Michel; Skupin, Alexander; Hertel, Frank; Bjerkvig, Rolf; Niclou, Simone Pierrette (Journal article; Peer reviewed, 2020)
      Patient-based cancer models are essential tools for studying tumor biology and for the assessment of drug responses in a translational context. We report the establishment a large cohort of unique organoids and patient-derived ...
    • PeptideShaker Online: A User-Friendly Web-Based Framework for the Identification of Mass Spectrometry-Based Proteomics Data 

      Farag, Yehia Mokhtar; Horro Marcos, Carlos; Vaudel, Marc; Barsnes, Harald (Journal article; Peer reviewed, 2021)
      Mass spectrometry-based proteomics is a high-throughput technology generating ever-larger amounts of data per project. However, storing, processing, and interpreting these data can be a challenge. A key element in simplifying ...
    • The Peripheral Binding of 14-3-3γ to Membranes Involves Isoform-Specific Histidine Residues 

      Bustad, Helene J.; Skjærven, Lars; Ying, Ming; Halskau, Øyvind; Baumann, Anne; Rodriguez-Larrea, David; Costas, Miguel; Underhaug, Jarl; Sanchez-Ruiz, Jose M.; Martinez, Aurora (Peer reviewed; Journal article, 2012-11-26)
      Mammalian 14-3-3 protein scaffolds include seven conserved isoforms that bind numerous phosphorylated protein partners and regulate many cellular processes. Some 14-3-3-isoforms, notably γ, have elevated affinity for ...
    • Personality traits, risk factors and comorbidities in Attention-deficit/hyperactivity disorder 

      Instanes, Johanne Telnes (Doctoral thesis, 2020-06-19)
      Background: Attention-deficit/hyperactivity disorder (ADHD) comprises cognitive and behavioural traits present from childhood. During lifespan, people with ADHD are more prone to develop psychiatric- and somatic comorbidities ...
    • Personalized Medicine to Improve Treatment of Dopa-Responsive Dystonia—A Focus on Tyrosine Hydroxylase Deficiency 

      Nygaard, Gyrid; Szigetvari, Peter D.; Grindheim, Ann Kari; Ruoff, Peter; Martinez, Aurora; Haavik, Jan; Kleppe, Rune; Flydal, Marte I. (Journal article; Peer reviewed, 2021)
      Dopa-responsive dystonia (DRD) is a rare movement disorder associated with defective dopamine synthesis. This impairment may be due to the fact of a deficiency in GTP cyclohydrolase I (GTPCHI, GCH1 gene), sepiapterin ...
    • PFN2 and NAA80 cooperate to efficiently acetylate the N-terminus of actin 

      Reed, Rasmus; Kind, Laura; Kaziales, Anna; Varland, Sylvia; Dai, Minglu; Richter, Klaus; Drazic, Adrian; Arnesen, Thomas (Journal article; Peer reviewed, 2020)
      The actin cytoskeleton is of profound importance to cell shape, division, and intracellular force generation. Profilins bind to globular (G-)actin and regulate actin filament formation. Although profilins are well-established ...
    • Pharmacokinetics and pharmacodynamics of t-cell bispecifics in the tumour interstitial fluid 

      Eigenmann, Miro Julian; Karlsen, Tine Veronica; Wagner, Marek; Tenstad, Olav; Weinzierl, Tina; Fauti, Tanja; Grimm, Hans Peter; Skogstrand, Trude; Klein, Christian; Sam, Johannes; Umana, Pablo; Bacac, Marina; Wiig, Helge; Walz, Antje-Christine (Journal article; Peer reviewed, 2021)
      The goal of this study is to investigate the pharmacokinetics in plasma and tumour interstitial fluid of two T-cell bispecifics (TCBs) with different binding affinities to the tumour target and to assess the subsequent ...
    • A Pharmacological Chaperone Therapy for Acute Intermittent Porphyria 

      Bustad, Helene J.; Toska, Karen; Schmitt, Caroline; Vorland, Marta; Skjærven, Lars; Kallio, Juha Pekka; Simonin, Sylvie; Lettéron, Philippe; Underhaug, Jarl; Sandberg, Sverre; Martinez, Aurora (Peer reviewed; Journal article, 2019-12-03)
      Mutations in hydroxymethylbilane synthase (HMBS) cause acute intermittent porphyria (AIP), an autosomal dominant disease where typically only one HMBS allele is mutated. In AIP, the accumulation of porphyrin precursors ...
    • Phenylalanine Hydroxylase from Legionella pneumophila Is a Thermostable Enzyme with a Major Functional Role in Pyomelanin Synthesis 

      Flydal, Marte Innselset; Chatfield, Christa H.; Zheng, Huaixin; Gunderson, Felizza F.; Aubi, Oscar; Cianciotto, Nicholas P.; Martinez, Aurora (Peer reviewed; Journal article, 2012-09-26)
      Background: Legionella pneumophila is a pathogenic bacterium that can cause Legionnaires’ disease and other non-pneumonic infections in humans. This bacterium produces a pyomelanin pigment, a potential virulence factor ...
    • Phosphatidylserine receptors enhance SARS-CoV-2 infection 

      Bohan, Dana; Van Ert, Hanora; Ruggio, Natalie; Rogers, Kai J; Badreddine, Mohammad; Aguilar Briseno, José A; Elliff, Jonah; Rojas Chavez, Roberth Anthony; Gao, Boning; Stokowy, Tomasz; Christakou, Eleni; Kursula, Petri; Micklem, David Robert; Gausdal, Gro; Haim, Hillel; Minna, John; Lorens, James Bradley; Maury, Wendy (Journal article; Peer reviewed, 2021)
      Phosphatidylserine (PS) receptors enhance infection of many enveloped viruses through virion-associated PS binding that is termed apoptotic mimicry. Here we show that this broadly shared uptake mechanism is utilized by ...
    • Phosphoglycerate Mutase 1 Activates DNA Damage Repair via Regulation of WIP1 Activity 

      Ohba, Shigeo; Johannessen, Tor-Christian Aase; Chatla, Kamalakar; Yang, Xiaodong; Pieper, Russell O.; Mukherjee, Joydeep (Journal article; Peer reviewed, 2020)
      The metabolic enzyme phosphoglycerate mutase 1 (PGAM1) is overexpressed in several types of cancer, suggesting an additional function beyond its established role in the glycolytic pathway. We here report that PGAM1 is ...
    • Phospholipase D in human blood platelets 

      Vorland, Marta (Doctoral thesis, 2008-05-30)
      We have studied phospholipase D (PLD) in human blood platelets. This enzyme hydrolyzes phosphatidylcholine to phosphatidic acid (PA) and choline, where PA is considered to be the main effector of PLDs function in cells. ...
    • Phosphorylation at serine 31 targets tyrosine hydroxylase tovesicles for transport along microtubules 

      Jorge Finnigan, Ana; Kleppe, Rune; K C, Kunwar Jung; Ying, Ming; Marie, Michael Bruno Eric; Rios Mondragon, Ivan; Salvatore, Michael F; Saraste, Jaakko; Martinez, Aurora (Peer reviewed; Journal article, 2017)
      Tyrosine hydroxylase (TH) catalyzes the conversion of L-tyrosine into L-DOPA, which is the rate-limiting step in the synthesis of catecholamines, such as dopamine, in dopaminergergic neurons. Low dopamine levels and death ...
    • PKU mutation p.G46S prevents the stereospecific binding of l-phenylalanine to the dimer of human phenylalanine hydroxylase regulatory domain 

      Leandro, João; Saraste, Jaakko; Leandro, Paula; Flatmark, Torgeir (Peer reviewed; Journal article, 2017-02)
      Mammalian phenylalanine hydroxylase (PAH) has a potential allosteric regulatory binding site for l‐phenylalanine (l‐Phe), in addition to its catalytic site. This arrangement is supported by a crystal structure of a homodimeric ...
    • PMEPA1 isoform a drives progression of glioblastoma by promoting protein degradation of the Hippo pathway kinase LATS1 

      Ji, Jianxiong; Ding, Kaikai; Luo, Tao; Xu, Ran; Zhang, Xin; Huang, Bin; Chen, An-Jing; Zhang, Di; Miletic, Hrvoje; Bjerkvig, Rolf; Thorsen, Frits; Wang, Jian; Li, Xingang (Peer reviewed; Journal article, 2019)
      The Hippo signaling pathway controls organ development and is also known, in cancer, to have a tumor suppressing role. Within the Hippo pathway, we here demonstrate, in human gliomas, a functional interaction of a transmembrane ...
    • Post-translational modifications of Annexin A2 are linked to its association with perinuclear nonpolysomal mRNP complexes 

      Aukrust, Ingvild; Rosenberg, Linn Andersen; Ankerud, Mia Madeleine; Bertelsen, Vibeke; Hollås, Hanne; Saraste, Jaakko; Grindheim, Ann Kari; Vedeler, Anni (Peer reviewed; Journal article, 2017-02)
      Various post-translational modifications (PTMs) regulate the localisation and function of the multifunctional protein Annexin A2 (AnxA2). In addition to its various tasks as a cytoskeletal- and membrane-associated protein, ...
    • Post-translational modifications of integrin ligands as pathogenic mechanisms in disease 

      Zeltz, Cedric; Gullberg, Donald (Peer reviewed; Journal article, 2014-11)
      Protein post-translational modifications like glycation, carbamylation and citrullination increase the functional diversity of the proteome but in disease situations might do more harm than good. Post-translational ...
    • POU3f2 in human gliomas - Expression pattern and functional role 

      Lellahi, Seyed Mohammad (Master thesis, 2014-06-02)
      Gliomas are tumors of the central nervous system (CNS). They are responsible for about 28% of all central nervous system tumors and for 80% of all malignant brain tumors. The most commonly used classification and grading ...