Blar i Department of Biomedicine på forfatter "Haavik, Jan"

Viser treff 41-60 av 62

    • Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum 

      Yang, Zhiyu; Wu, Hanrui; Lee, Phil H.; Tsetsos, Fotis; Davis, Lea K.; Yu, Dongmei; Lee, Sang Hong; Dalsgaard, Søren; Haavik, Jan; Barta, Csaba; Zayats, Tetyana; Eapen, Valsamma; Wray, Naomi R.; Devlin, Bernie; Daly, Mark; Neale, Benjamin; Børglum, Anders D.; Crowley, James J.; Scharf, Jeremiah; Mathews, Carol A.; Faraone, Stephen V.; Franke, Barbara; Mattheisen, Manuel; Smoller, Jordan W.; Paschou, Peristera (Journal article; Peer reviewed, 2021)
      Background Tourette syndrome (TS) is often found comorbid with other neurodevelopmental disorders across the impulsivity-compulsivity spectrum, with attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder ...

    • Involvement of the 14-3-3 Gene Family in Autism Spectrum Disorder and Schizophrenia: Genetics, Transcriptomics and Functional Analyses 

      Torrico, Bàrbara; Antón-Galindo, Ester; Fernàndez-Castillo, Noèlia; Rojo-Francàs, Eva; Ghorbani, Sadaf; Pineda-Cirera, Laura; Hervas, Amaia; Rueda, Isabel; Moreno, Estefanía; Fullerton, Janice M.; Casadó, Vicent; Buitelaar, Jan K; Rommelse, Nanda; Franke, Barbara; Reif, Andreas; Chiocchetti, Andreas G; Freitag, Christine; Kleppe, Rune; Haavik, Jan; Toma, Claudio; Cormand, Bru (Journal article; Peer reviewed, 2020)
      The 14-3-3 protein family are molecular chaperones involved in several biological functions and neurological diseases. We previously pinpointed YWHAZ (encoding 14-3-3ζ) as a candidate gene for autism spectrum disorder (ASD) ...

    • Labor epidural analgesia and subsequent risk of offspring autism spectrum disorder and attention-deficit/hyperactivity disorder: A cross-national cohort study of over 4.5 million individuals and their siblings in Finland, Norway, and Sweden 

      Hegvik, Tor-Arne; Klungsøyr, Kari; Kuja-Halkola, Ralf; Remes, Hanna; Haavik, Jan; D*Onofrio, Brian M.; Metsä-Simola, Niina; Engeland, Anders; Fazel, Seena; Lichtenstein, Paul; Martikainen, Pekka; Larsson, Henrik; Sariaslan, Amir (Journal article; Peer reviewed, 2023)
      Background A recent study has suggested that labor epidural analgesia may be associated with increased rates of offspring autism spectrum disorder. Subsequent replication attempts have lacked sufficient power to confidently ...

    • Mammalian CSAD and GADL1 have distinct biochemical properties and patterns of brain expression 

      Winge, Ingeborg; Teigen, Knut; Fossbakk, Agnete; Mahootchi, Elaheh; Kleppe, Rune; Sköldberg, Filip; Kämpe, Olle; Haavik, Jan (Peer reviewed; Journal article, 2015-11)
      Variants in the gene encoding the enzyme glutamic acid decarboxylase like 1 (GADL1) have been associated with response to lithium therapy. Both GADL1 and the related enzyme cysteine sulfinic acid decarboxylase (CSAD) have ...

    • Modelling cellular signal communication mediated by phosphorylation dependent interaction with 14-3-3 proteins 

      Kleppe, Rune; Ghorbani, Sadaf; Martinez, Aurora; Haavik, Jan (Peer reviewed; Journal article, 2014-01-03)
      The 14-3-3 proteins are important effectors of Ser/Thr phosphorylation in eukaryotic cells. Using mathematical modelling we investigated the roles of these proteins as effectors in signalling pathways that involve ...

    • Novel loci associated with attention-deficit/hyperactivity disorder are revealed by leveraging polygenic overlap with educational attainment 

      Shadrin, Alexey A.; Smeland, Olav Bjerkehagen; Zayats, Tetyana; Schork, Andrew J; Frei, Oleksandr; Bettella, Francesco; Witoelar, Aree; Li, Wen; Eriksen, Jon Alm; Krull, Florian; Djurovic, Srdjan; Faraone, Stephen V.; Reichborn-Kjennerud, Ted; Thompson, Wesley K; Johansson, Stefan; Haavik, Jan; Dale, Anders; Wang, Yunpeng; Andreassen, Ole Andreas (Peer reviewed; Journal article, 2018-02)
      Objective Attention-deficit/hyperactivity disorder (ADHD) is a common and highly heritable psychiatric condition. By exploiting the reported relationship between ADHD and educational attainment (EA), we aimed to improve ...

    • 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 ...

    • Prevalence and clinical correlates of insomnia in adults with attention-deficit hyperactivity disorder 

      Brevik, Erlend Joramo; Lundervold, Astri; Halmøy, Anne; Posserud, Maj-Britt Rocio; Instanes, Johanne Telnes; Bjorvatn, Bjørn; Haavik, Jan (Peer reviewed; Journal article, 2017-08)
      Objective: To investigate the prevalence of insomnia in adults with Attention-deficit hyperactivity disorder (ADHD) and its association with clinical subtypes, current ADHD symptoms, and stimulant treatment. Method: We ...

    • The quaternary structure of human tyrosine hydroxylase: effects of dystonia‐associated missense variants on oligomeric state and enzyme activity 

      Szigetvari, Peter Daniel; Muruganandam, Gopinath; Kallio, Juha; Hallin, Erik Ingmar; Fossbakk, Agnete; Loris, Remy; Kursula, Inari; Møller, Lisbeth Birk; Knappskog, Per; Kursula, Petri; Haavik, Jan (Journal article; Peer reviewed, 2019)
      Tyrosine hydroxylase (TH) is a multi-domain, homo-oligomeric enzyme that catalyses the rate-limiting step of catecholamine neurotransmitter biosynthesis. Missense variants of human TH are associated with a recessive ...

    • Regulation of tyrosine hydroxylase is preserved across different homo- and heterodimeric 14-3-3 proteins 

      Ghorbani, Sadaf; Fossbakk, Agnete; Jorge Finnigan, Ana; Flydal, Marte Innselset; Haavik, Jan; Kleppe, Rune (Peer reviewed; Journal article, 2016-05)
      Tyrosine hydroxylase (TH) is regulated by members of the 14-3-3 protein family. However, knowledge about the variation between 14-3-3 proteins in their regulation of TH is still limited. We examined the binding, effects ...

    • Risk factors of suicidal spectrum behaviors in adults and adolescents with attention-deficit / hyperactivity disorder – a systematic review 

      Austgulen, Amalie; Skram, Nanna Karen Gilberg; Haavik, Jan; Lundervold, Astri J. (Journal article; Peer reviewed, 2023-08-21)
      Introduction: Adolescents and adults with attention-deficit/hyperactivity disorder (ADHD) are at increased risk of suicidal spectrum behaviors (SSBs). However, there is limited knowledge about risk factors triggering SSBs ...

    • Serine 19 phosphorylation and 14‐3‐3 binding regulate phosphorylation and dephosphorylation of tyrosine hydroxylase on serine 31 and serine 40 

      Ghorbani, Sadaf; Szigetvari, Peter Daniel; Haavik, Jan; Kleppe, Rune (Peer reviewed; Journal article, 2019-09-17)
      Multisite phosphorylation and structural flexibility allow for complex regulation of proteins through cellular signaling. Tyrosine hydroxylase (TH), a key enzyme of catecholamine synthesis, is regulated by multiple neuronal ...

    • Serum concentrations of kynurenines in adult patients with attention-deficit hyperactivity disorder (ADHD): a case–control study 

      Aarsland, Tore Ivar Malmei; Landaas, Elisabeth Toverud; Hegvik, Tor-Arne; Ulvik, Arve; Halmøy, Anne; Ueland, Per Magne; Haavik, Jan (Peer reviewed; Journal article, 2015-11-05)
      Background: The essential amino acid tryptophan is catabolised mainly through the kynurenine pathway. Altered circulating levels of kynurenines have been reported in chronic inflammatory conditions and in several ...

    • Sex differences in parent–offspring recurrence of attention-deficit/hyperactivity disorder 

      Solberg, Berit Skretting; Hegvik, Tor-Arne; Halmøy, Anne; Skjaerven, Rolv; Engeland, Anders; Haavik, Jan; Klungsøyr, Kari (Journal article; Peer reviewed, 2020)
      Background Attention-deficit/hyperactivity disorder (ADHD) is a highly heritable neurodevelopmental disorder sharing genetic risk factors with other common psychiatric disorders. However, intergenerational recurrence ...

    • Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p 

      Weiner, Daniel J.; Ling, Emi; Erdin, Serkan; Tai, Derek J. C.; Yadav, Rachita; Grove, Jakob; Fu, Jack M.; Nadig, Ajay; Carey, Caitlin E.; Baya, Nikolas; Bybjerg-Grauholm, Jonas; Mortensen, Preben B.; Werge, Thomas; Demontis, Ditte; Mors, Ole; Nordentoft, Merete; Als, Thomas D.; Baekvad-Hansen, Marie; Rosengren, Anders; Havdahl, Alexandra Karoline Saasen; Hedemand, Anne; Palotie, Aarno; Chakravarti, Aravinda; Arking, Dan; Sulovari, Arvis; Starnawska, Anna; Thiruvahindrapuram, Bhooma; de Leeuw, Christiaan; Carey, Caitlin; Ladd-Acosta, Christine; van der Merwe, Celia; Devlin, Bernie; Cook, Edwin H.; Eichler, Evan; Corfield, Elizabeth Claire; Dieleman, Gwen; Schellenberg, Gerard; Hakonarson, Hakon; Coon, Hilary; Dziobek, Isabel; Vorstman, Jacob; Girault, Jessica; Sutcliffe, James S.; Duan, Jinjie; Nurnberger, John; Hallmayer, Joachim; Buxbaum, Joseph; Piven, Joseph; Weiss, Lauren; Davis, Lea; Janecka, Magdalena; Mattheisen, Manuel; State, Matthew W.; Gill, Michael; Daly, Mark; Uddin, Mohammed; Andreassen, Ole; Szatmari, Peter; Lee, Phil Hyoun; Anney, Richard; Ripke, Stephan; Satterstrom, Kyle; Santangelo, Susan; Kuo, Susan; van Elst, Ludger Tebartz; Rolland, Thomas; Bougeron, Thomas; Polderman, Tinca; Turner, Tychele; Underwood, Jack; Manikandan, Veera; Pillalamarri, Vamsee; Warrier, Varun; Philipsen, Alexandra; Reif, Andreas; Hinney, Anke; Cormand, Bru; Bau, Claiton H. D.; Rovaris, Diego Luiz; Sonuga-Barke, Edmund; Grevet, Eugenio Horacio; Salum, Giovanni; Larsson, Henrik Bo W.; Buitelaar, Jan; Haavik, Jan; McGough, James; Kuntsi, Jonna; Elia, Josephine; Lesch, Klaus-Peter; Klein, Marieke; Bellgrove, Mark; Tesli, Martin Steen; Leung, Patrick W. L.; Pan, Pedro M.; Dalsgaard, Søren; Loo, Sandra; Medland, Sarah; Faraone, Stephen; Reichborn-Kjennerud, Ted; Banaschewski, Tobias; Hawi, Ziarih; Berretta, Sabina; Macosko, Evan Z.; Sebat, Jonathan; O’Connor, Luke J.; Hougaard, David M.; Børglum, Anders D.; Talkowski, Michael E.; McCarroll, Steven A.; Robinson, Elise B. (Journal article; Peer reviewed, 2022)
      The canonical paradigm for converting genetic association to mechanism involves iteratively mapping individual associations to the proximal genes through which they act. In contrast, in the present study we demonstrate the ...

    • Structure and substrate specificity determinants of the taurine biosynthetic enzyme cysteine sulphinic acid decarboxylase 

      Mahootchi, Elaheh; Raasakk, Arne; Luan, Weisha; Muruganandam, Gopinath; Loris, Remy; Haavik, Jan; Kursula, Petri (Journal article; Peer reviewed, 2021)
      Pyridoxal 5́-phosphate (PLP) is an important cofactor for amino acid decarboxylases with many biological functions, including the synthesis of signalling molecules, such as serotonin, dopamine, histamine, γ-aminobutyric ...

    • Structure of the mouse acidic amino acid decarboxylase GADL1 

      Raasakka, Arne; Mahootchi, Elaheh; Winge, Ingeborg; Luan, Weisha; Kursula, Petri; Haavik, Jan (Journal article; Peer reviewed, 2018)
      Pyridoxal 5′-phosphate (PLP) is a ubiquitous cofactor in various enzyme classes, including PLP-dependent decarboxylases. A recently discovered member of this class is glutamic acid decarboxylase-like protein 1 (GADL1), ...

    • Synthetic corticosteroids as tryptophan hydroxylase stabilizers 

      Betari, Nibal; Teigen, Knut; Sahlholm, Kristoffer; Haavik, Jan (Journal article; Peer reviewed, 2021)
      Background: Clinically, corticosteroids are used mainly for their immune-modulatory properties but are also known to influence mood. Despite evidence of a role in regulating tryptophan hydroxylases (TPH), key enzymes in ...

    • Tyrosine and tryptophan hydroxylases as therapeutic targets in human disease 

      Waløen, Kai; Kleppe, Rune; Martinez, Aurora; Haavik, Jan (Peer reviewed; Journal article, 2017)
      Introduction: The ancient and ubiquitous monoamine signalling molecules serotonin, dopamine, norepinephrine, and epinephrine are involved in multiple physiological functions. The aromatic amino acid hydroxylases tyrosine ...

    • Tyrosinemia Type 1 and symptoms of ADHD: Biochemical mechanisms and implications for treatment and prognosis 

      Barone, Helene; Bliksrud, Yngve Thomas; Elgen, Irene Bircow; Szigetvari, Peter Daniel; Kleppe, Rune; Ghorbani, Sadaf; Hansen, Eirik Vangsøy; Haavik, Jan (Peer reviewed; Journal article, 2020)
      Hereditary tyrosinemia Type 1 (HT‐1) is a rare metabolic disease where the enzyme catalyzing the final step of tyrosine breakdown is defect, leading to accumulation of toxic metabolites. Nitisinone inhibits the degradation ...