Browsing Bergen Open Research Archive by Author "Szigetvari, Peter Daniel"
Now showing items 1-6 of 6
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The effects of phenylalanine and tyrosine levels on dopamine production in rat PC12 cells. Implications for treatment of phenylketonuria, tyrosinemia type 1 and comorbid neurodevelopmental disorders
Szigetvari, Peter Daniel; Patil, Sudarshan; Birkeland, Even; Kleppe, Rune; Haavik, Jan (Journal article; Peer reviewed, 2023)Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, resulting in phenylalanine accumulation and impaired tyrosine production. In Tyrosinemia ... -
Monoamine synthesis in neurometabolic disorders affecting catecholaminergic functioning: biochemical mechanisms and treatment implications
Szigetvari, Peter Daniel (Doctoral thesis, 2024-02-14)Løpet av de siste 100 år er det oppdaget hundrevis av arvelige metabolske forstyrrelser. Slike tilstander har ofte recessiv Mendelsk arv og kalles også medfødte metabolismefeil. Symptomene debuterer vanligvis like etter ... -
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 ... -
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 ... -
Structure of the ALS Mutation Target Annexin A11 Reveals a Stabilising N-Terminal Segment
Lillebostad, Peder August Gudmundsen; Raasakka, Arne; Hjellbrekke, Silje Johannessen; Patil, Sudarshan; Røstbø, Trude Kvalnes; Hollås, Hanne; Sakya, Siri; Szigetvari, Peter Daniel; Vedeler, Anni; Kursula, Petri (Journal article; Peer reviewed, 2020)The functions of the annexin family of proteins involve binding to Ca2+, lipid membranes, other proteins, and RNA, and the annexins share a common folded core structure at the C terminus. Annexin A11 (AnxA11) has a long ... -
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 ...