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BH4 in tyrosine hydroxylase deficiency

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Manage episode 406612505 series 3001064
Content provided by JIMD Podcasts and Journal of Inherited Metabolic Disease. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by JIMD Podcasts and Journal of Inherited Metabolic Disease or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://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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173 episodes

Artwork
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Manage episode 406612505 series 3001064
Content provided by JIMD Podcasts and Journal of Inherited Metabolic Disease. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by JIMD Podcasts and Journal of Inherited Metabolic Disease or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://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
  continue reading

173 episodes

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