Thöny B - Search Results

1

The Pah-R261Q mouse reveals oxidative stress associated with amyloid-like hepatic aggregation of mutant phenylalanine hydroxylase.

Aubi O, Prestegård KS, Jung-Kc K, Shi TS, Ying M, Grindheim AK, Scherer T, Ulvik A, McCann A, Spriet E, Thöny B, Martinez A. Aubi O, et al. Among authors: thony b. Nat Commun. 2021 Apr 6;12(1):2073. doi: 10.1038/s41467-021-22107-1. Nat Commun. 2021. PMID: 33824313 Free PMC article.

2

Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.

Thöny B, Ding Z, Martínez A. Thöny B, et al. FEBS Lett. 2004 Nov 19;577(3):507-11. doi: 10.1016/j.febslet.2004.10.056. FEBS Lett. 2004. PMID: 15556637 Free article.

3

Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice.

Scavelli R, Ding Z, Blau N, Haavik J, Martínez A, Thöny B. Scavelli R, et al. Among authors: thony b. Mol Genet Metab. 2005 Dec;86 Suppl 1:S153-5. doi: 10.1016/j.ymgme.2005.09.015. Epub 2005 Nov 11. Mol Genet Metab. 2005. PMID: 16290004

4

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.

Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N. Zurflüh MR, et al. Among authors: thony b. Hum Mutat. 2008 Jan;29(1):167-75. doi: 10.1002/humu.20637. Hum Mutat. 2008. PMID: 17935162

5

Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase.

Thöny B, Calvo AC, Scherer T, Svebak RM, Haavik J, Blau N, Martinez A. Thöny B, et al. J Neurochem. 2008 Jul;106(2):672-81. doi: 10.1111/j.1471-4159.2008.05423.x. Epub 2008 Apr 14. J Neurochem. 2008. PMID: 18419768 Free article.

6

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.

Pey AL, Ying M, Cremades N, Velazquez-Campoy A, Scherer T, Thöny B, Sancho J, Martinez A. Pey AL, et al. Among authors: thony b. J Clin Invest. 2008 Aug;118(8):2858-67. doi: 10.1172/JCI34355. J Clin Invest. 2008. PMID: 18596920 Free PMC article.

7

Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.

Calvo AC, Scherer T, Pey AL, Ying M, Winge I, McKinney J, Haavik J, Thöny B, Martinez A. Calvo AC, et al. Among authors: thony b. J Neurochem. 2010 Aug;114(3):853-63. doi: 10.1111/j.1471-4159.2010.06821.x. Epub 2010 May 18. J Neurochem. 2010. PMID: 20492352 Free article.

8

Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.

Heintz C, Troxler H, Martinez A, Thöny B, Blau N. Heintz C, et al. Among authors: thony b. Mol Genet Metab. 2012 Apr;105(4):559-65. doi: 10.1016/j.ymgme.2011.12.025. Epub 2012 Jan 12. Mol Genet Metab. 2012. PMID: 22300847 Free article.

9

The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.

Sarkissian CN, Ying M, Scherer T, Thöny B, Martinez A. Sarkissian CN, et al. Among authors: thony b. Hum Mutat. 2012 Oct;33(10):1464-73. doi: 10.1002/humu.22128. Epub 2012 Jul 2. Hum Mutat. 2012. PMID: 22644647

10

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency.

Korner G, Noain D, Ying M, Hole M, Flydal MI, Scherer T, Allegri G, Rassi A, Fingerhut R, Becu-Villalobos D, Pillai S, Wueest S, Konrad D, Lauber-Biason A, Baumann CR, Bindoff LA, Martinez A, Thöny B. Korner G, et al. Among authors: thony b. Brain. 2015 Oct;138(Pt 10):2948-63. doi: 10.1093/brain/awv224. Epub 2015 Aug 14. Brain. 2015. PMID: 26276013 Free article.

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