Browsing Bergen Open Research Archive by Author "Colini Baldeshi, Arianna"

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Tetrahydrobiopterin (BH<inf>4</inf>) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model

K C, Kunwar Jung; Tristán-Noguero, Alba; Altankhuyag, Altanchimeg; Piñol Belenguer, David; Prestegård, Karina Skjervheim; Fernandez-Carasa, Irene; Colini Baldeshi, Arianna; Sigatulina Bondarenko, Maria; García-Cazorla, Angeles; Consiglio, Antonella; Martinez, Aurora (Journal article; Peer reviewed, 2024)

Proteostatic regulation of tyrosine hydroxylase (TH), the rate-limiting enzyme in dopamine biosynthesis, is crucial for maintaining proper brain neurotransmitter homeostasis. Variants of the TH gene are associated with ...