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BH4 in tyrosine hydroxylase deficiency
Manage episode 406612505 series 3001064
Indhold leveret af JIMD Podcasts and Journal of Inherited Metabolic Disease. Alt podcastindhold inklusive episoder, grafik og podcastbeskrivelser uploades og leveres direkte af JIMD Podcasts and Journal of Inherited Metabolic Disease eller deres podcastplatformspartner. Hvis du mener, at nogen bruger dit ophavsretligt beskyttede værk uden din tilladelse, kan du følge processen beskrevet her https://da.player.fm/legal.
Listener feedback link: https://form.jotform.com/240459204544050 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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