Detalhe da pesquisa
1.
Tetrahydrobiopterin (BH4) treatment stabilizes tyrosine hydroxylase: Rescue of tyrosine hydroxylase deficiency phenotypes in human neurons and in a knock-in mouse model.
J Inherit Metab Dis
; 47(3): 494-508, 2024 05.
Artigo
Inglês
| MEDLINE | ID: mdl-38196161
2.
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Hum Mutat
; 40(4): 483-494, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30667134
3.
The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.
Nat Commun
; 12(1): 2073, 2021 04 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33824313