Blar i Department of Biomedicine på forfatter "Knappskog, Per"
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Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in dopa-responsive dystonia
Fossbakk, Agnete; Kleppe, Rune; Knappskog, Per; Martinez, Aurora; Haavik, Jan (Peer reviewed; Journal article, 2014-06-03)Congenital tyrosine hydroxylase deficiency (THD) is found in autosomal-recessive Dopa-responsive dystonia and related neurological syndromes. The clinical manifestations of THD are variable, ranging from early-onset lethal ... -
Genome-wide analysis of attention deficit hyperactivity disorder in Norway
Zayats, Tetyana; Athanasiu, Lavinia; Sønderby, Ida Elken; Djurovic, Srdjan; Westlye, Lars Tjelta; Tamnes, Christian Krog; Fladby, Tormod; Aase, Heidi; Zeiner, Pål; Reichborn-Kjennerud, Ted; Knappskog, Per; Knudsen, Gun Peggy; Andreassen, Ole Andreas; Johansson, Stefan; Haavik, Jan (Peer reviewed; Journal article, 2015-04-13)Background Attention deficit hyperactivity disorder (ADHD) is a highly heritable neuropsychiatric condition, but it has been difficult to identify genes underlying this disorder. This study aimed to explore genetics of ... -
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 ...