BH4 in tyrosine hydroxylase deficiency
Mar 15, 2024•16 min
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Episode description
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Kunwar Jung-KC and Alba Tristán-Noguero discuss tyrosine hydroxylase deficiency and explain how the tyrosine hyodroxylase cofactor, BH4, has shown early therapeutic potential in human neurons and a knock-in mouse model.
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model
Kunwar Jung-KC, Alba Tristán-Noguero, et al
https://doi.org/10.1002/jimd.12702
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