Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1

Tyrosine hydroxylase (TH) is the rate‐limiting enzyme in dopamine biosynthesis catalyzing the tetrahydrobiopterin (BH4)—dependent hydroxylation of tyrosine to L‐DOPA. Here, we analyzed 25 TH variants associated with various degrees of dopa‐responsive dystonia and evaluate the effect of each variant...

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