Molecular Basis of DOPA-Responsive Dystonia
Biosynthesis of catecholamines and serotonin is mainly regulated by the activity of the hydroxylation reaction catalyzed by tyrosine hydroxylase (TH) in catecholamine synthesis and by tryptophan hydroxylase (TPH) in 5HT-synthesis. 6R-L-erythro-5,6,7,8-tetrahydrobiopterin (BH4) is an essential cofactor for both TH and TPH. BH4 is synthesized from guanosine triphosphate (GTP) through three enzymatic reactions catalyzed by GTP cyclohydrolase I (GCH), pyruvoyltetrahydropterin synthase (PTS), and sepiapterin reductase. GCH is a rate-limiting enzyme for the de novo synthesis of BH4.
KeywordsTyrosine Hydroxylase Catecholamine Synthesis Dihydropteridine Reductase Sepiapterin Reductase Aromatic Amino Acid Hydroxylase
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