Browsing Department of Biomedicine by Author "Fossbakk, Agnete"
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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 ... -
Human tyrosine hydroxylase: Oxygen dependence and role in Dopa responsive dystonia
Fossbakk, Agnete (Doctoral thesis, 2016-10-07)The aromatic amino acid hydroxylases (AAHs); phenylalanine hydroxylase (PAH), tyrosine hydroxylase (TH), tryptophan hydroxylase 1 and 2 (TPH 1/TPH 2); are structurally and functionally related enzymes. All AAHs require ... -
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 ... -
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 ...