Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock‐in mouse model - Jung‐KC, Kunwar; Tristán‐Noguero, Alba; Altankhuyag, Altanchimeg; Piñol Belenguer, David; Prestegård, Karina S.; Fernandez‐Carasa, Irene; Colini Baldeschi, Arianna; Sigatulina Bondarenko, Maria; García‐Cazorla, Angeles; Consiglio, Antonella; Martinez, Aurora (Journal of inherited metabolic disease, 2024)
Keywords: Animals; Biopterins - analogs & derivatives; Catalepsy; Catecholamines; Dan protein; Disease Models, Animal; Dopamine; Dopamine - metabolism; Female; Gene Knock-In Techniques; Heterozygosity; Homeostasis; Humans; Inhibitory postsynaptic potentials; iPSC‐derived neurons; Latency; Male; Mice; mice model; Neurons - metabolism; pharmacological chaperones; Phenotype; Phenotypes; Phenylketonurias - drug therapy; Phenylketonurias - genetics; Phenylketonurias - metabolism; Proteins; Tetrahydrobiopterin; tetrahydrobiopterin (BH4); Tyrosine 3-monooxygenase; Tyrosine 3-Monooxygenase - metabolism; tyrosine hydroxylase deficiency (THD); mice model; pharmacological chaperones; iPSC‐derived neurons; tyrosine hydroxylase deficiency (THD); dopamine; tetrahydrobiopterin (BH4)