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Beat Thöny
Beat Thöny
Professor of Clincial Biochemistry, Department of Pediatrics, University of Zürich, Switzerland
Verified email at kispi.uzh.ch - Homepage
Title
Cited by
Cited by
Year
Tetrahydrobiopterin biosynthesis, regeneration and functions
B Thöny, G Auerbach, N Blau
Biochemical Journal 347 (1), 1-16, 2000
10382000
Tetrahydrobiopterin: biochemistry and pathophysiology
ER Werner, N Blau, B Thöny
Biochemical journal 438 (3), 397-414, 2011
4872011
Tetrahydrobiopterin: biochemistry and pathophysiology
E Werner, N Blau, B Thöny
Biochemical Journal 438, 397–414, 2011
4872011
Treatment of a metabolic liver disease by in vivo genome base editing in adult mice
L Villiger, HM Grisch-Chan, H Lindsay, F Ringnalda, CB Pogliano, ...
Nature medicine 24 (10), 1519-1525, 2018
3682018
Epidermal H2O2 accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: identification of a general mechanism in regulation of all 6BH4-dependent processes?
KU Schallreuter, J Moore, JM Wood, WD Beazley, EMJ Peters, LK Marles, ...
Journal of investigative dermatology 116 (1), 167-174, 2001
3562001
Reviews of evidence regarding interventions to reduce tobacco use and exposure to environmental tobacco smoke
DP Hopkins, PA Briss, CJ Ricard, CG Husten, VG Carande-Kulis, ...
American journal of preventive medicine 20 (2), 16-66, 2001
3342001
Disorders of Tetrahydrobiopterin and Rerated Biogenic Amines
N Blau
The metabolic & molecular bases of inherited disease, 1725-1776, 2002
3002002
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
L Bonafé, B Thöny, JM Penzien, B Czarnecki, N Blau
The American Journal of Human Genetics 69 (2), 269-277, 2001
2672001
Influence of early stress on social abilities and serotonergic functions across generations in mice
TB Franklin, N Linder, H Russig, B Thöny, IM Mansuy
PloS one 6 (7), e21842, 2011
2502011
Molecular genetics of tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency
MR Zurflüh, J Zschocke, M Lindner, F Feillet, C Chery, A Burlina, ...
Human mutation 29 (1), 167-175, 2008
2442008
Mutations in the BH4‐metabolizing genes GTP cyclohydrolase I, 6‐pyruvoyl‐tetrahydropterin synthase, sepiapterin reductase, carbinolamine‐4a‐dehydratase, and …
B Thöny, N Blau
Human mutation 27 (9), 870-878, 2006
2312006
The− 24/− 12 promoter comes of age
B Thöny, H Hennecke
FEMS microbiology reviews 5 (4), 341-357, 1989
2301989
In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels
T Rothgangl, MK Dennis, PJC Lin, R Oka, D Witzigmann, L Villiger, W Qi, ...
Nature biotechnology 39 (8), 949-957, 2021
2212021
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
N Blau, L Bonafé, B Thöny
Molecular genetics and metabolism 74 (1-2), 172-185, 2001
2182001
Concurrent evolution of nitrogenase genes and 16S rRNA in Rhizobium species and other nitrogen fixing bacteria
H Hennecke, K Kaluza, B Thöny, M Fuhrmann, W Ludwig, E Stackebrandt
Archives of Microbiology 142, 342-348, 1985
1941985
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria
AL Pey, M Ying, N Cremades, A Velazquez-Campoy, T Scherer, B Thöny, ...
The Journal of clinical investigation 118 (8), 2858-2867, 2008
1882008
The genetic landscape and epidemiology of phenylketonuria
A Hillert, Y Anikster, A Belanger-Quintana, A Burlina, BK Burton, ...
The American Journal of Human Genetics 107 (2), 234-250, 2020
1872020
Transcriptional activation of promoters of the superoxide and multiple antibiotic resistance regulons by Rob, a binding protein of the Escherichia coli origin of chromosomal …
KW Jair, X Yu, K Skarstad, B Thöny, N Fujita, A Ishihama, RE Wolf Jr
Journal of bacteriology 178 (9), 2507-2513, 1996
1631996
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy
J Friedman, E Roze, JE Abdenur, R Chang, S Gasperini, V Saletti, ...
Annals of neurology 71 (4), 520-530, 2012
1562012
Biallelic mutations in DNAJC12 cause hyperphenylalaninemia, dystonia, and intellectual disability
Y Anikster, TB Haack, T Vilboux, B Pode-Shakked, B Thöny, N Shen, ...
The American Journal of Human Genetics 100 (2), 257-266, 2017
1492017
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