Tetrahydrobiopterin (BH
dopamine
iPSC-derived neurons
mice model
pharmacological chaperones
tetrahydrobiopterin (BH4)
tyrosine hydroxylase deficiency (THD)
Journal
Journal of inherited metabolic disease
ISSN: 1573-2665
Titre abrégé: J Inherit Metab Dis
Pays: United States
ID NLM: 7910918
Informations de publication
Date de publication:
09 Jan 2024
09 Jan 2024
Historique:
revised:
05
12
2023
received:
14
07
2023
accepted:
06
12
2023
medline:
10
1
2024
pubmed:
10
1
2024
entrez:
10
1
2024
Statut:
aheadofprint
Résumé
Proteostatic regulation of tyrosine hydroxylase (TH), the rate-limiting enzyme in dopamine biosynthesis, is crucial for maintaining proper brain neurotransmitter homeostasis. Variants of the TH gene are associated with tyrosine hydroxylase deficiency (THD), a rare disorder with a wide phenotypic spectrum and variable response to treatment, which affects protein stability and may lead to accelerated degradation, loss of TH function and catecholamine deficiency. In this study, we investigated the effects of the TH cofactor tetrahydrobiopterin (BH
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : European Research Council
ID : 2012-StG-311736-PD-HUMMODEL
Pays : International
Informations de copyright
© 2024 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.
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