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1

State-of-the-Art 2019 on Gene therapy for Phenylketonuria

Grisch-Chan, Hiu Man, Schwank, Gerald, Harding, Cary O, Thony, Beat

Journal:

Human Gene Therapy

Year:

2019

Language:

english

File:

PDF, 386 KB

english, 2019

2

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

Journal:

Year:

2008

Language:

english

File:

PDF, 309 KB

english, 2008

3

Tetrahydrobiopterin: biochemistry and pathophysiology

Werner, Ernst R., Blau, Nenad, Thöny, Beat

Journal:

Biochemical Journal

Year:

2011

Language:

english

File:

PDF, 1.15 MB

english, 2011

4

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Anikster, Yair, Haack, Tobias B., Vilboux, Thierry, Pode-Shakked, Ben, Thöny, Beat, Shen, Nan, Guarani, Virginia, Meissner, Thomas, Mayatepek, Ertan, Trefz, Friedrich K., Marek-Yagel, Dina, Martinez,

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 1.03 MB

english, 2017

5

Tetrahydrobiopterin treatment reduces brain L-Phe but only partially improves serotonin in hyperphenylalaninemic ENU1/2 mice

Scherer, Tanja, Allegri, Gabriella, Sarkissian, Christineh N., Ying, Ming, Grisch-Chan, Hiu Man, Rassi, Anahita, Winn, Shelley R., Harding, Cary O., Martinez, Aurora, Thöny, Beat

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 815 KB

english, 2018

6

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes

Beat Thöny, Nenad Blau

Journal:

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

7

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

Tanja Oppliger, Beat Thöny, Claudia Kluge, Ana Matasovic, Claus W. Heizmann, Alberto Ponzone, Marco Spada, Nenad Blau

Journal:

Year:

1997

Language:

english

File:

PDF, 191 KB

english, 1997

8

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

Tanja Scherer-Oppliger, Ana Matasovic, Stephanie Laufs, Harvey L. Levy, Elisabeth J. Quackenbush, Nenad Blau, Beat Thöny

Journal:

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

9

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

Nenad Blau, Tanja Scherer-Oppliger, Alessandra Baumer, Mariluce Riegel, Ana Matasovic, Albert Schinzel, Jaak Jaeken, Beat Thöny

Journal:

Year:

2000

Language:

english

File:

PDF, 261 KB

english, 2000

10

More transgenic mouse models of dopamine deficiency

Beat Thöny, Nenad Blau

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 75 KB

english, 2004

11

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

Beat Thöny, Nenad Blau

Journal:

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

12

Mutations in human monoamine-related neurotransmitter pathway genes

Jan Haavik, Nenad Blau, Beat Thöny

Journal:

Year:

2008

Language:

english

File:

PDF, 294 KB

english, 2008

13

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

Journal:

Year:

2008

Language:

english

File:

PDF, 74 KB

english, 2008

14

Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail

David Meili, Jana Kralovicova, Julian Zagalak, Luisa Bonafé, Laura Fiori, Nenad Blau, Beat Thöny, Igor Vorechovsky

Journal:

Year:

2009

Language:

english

File:

PDF, 480 KB

english, 2009

15

Pseudoexon exclusion by antisense therapy in 6-pyruvoyl-tetrahydropterin synthase deficiency

Sandra Brasil, Hiu Man Viecelli, David Meili, Anahita Rassi, Lourdes R. Desviat, Belen Pérez, Magdalena Ugarte, Beat Thöny

Journal:

Year:

2011

Language:

english

File:

PDF, 404 KB

english, 2011

16

Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features

Gurusidheshwar M. Wali, Beat Thony, Nenad Blau

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 477 KB

english, 2010

17

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

Giovanna Zorzi, Beat Thöny, Nenad Blau

Journal:

Journal of Neurochemistry

Year:

2002

Language:

english

File:

PDF, 114 KB

english, 2002

18

Retrovirus-Mediated Double Transduction of the GTPCH and PTPS Genes Allows 6-Pyruvoyltetrahydropterin Synthase-Deficient Human Fibroblasts to Synthesize and Release Tetrahydrobiopterin

Stephanie Laufs, Nenad Blau, Beat Thöny

Journal:

Journal of Neurochemistry

Year:

1998

Language:

english

File:

PDF, 823 KB

english, 1998

19

Epidermal H2O2 Accumulation Alters Tetrahydrobiopterin (6BH4) Recycling in Vitiligo: Identification of a General Mechanism in Regulation of All 6BH4-Dependent Processes?

Schallreuter, Karin U., Moore, Jeremy, Wood, John M., Beazley, Wayne D., Peters, Eva M. J., Marles, Lee K., Behrens-Williams, Stefanie C., Dummer, Reinhard, Blau, Nenad, Thony, Beat

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 322 KB

english, 2001

20

ThenifENgenes participating in FeMo cofactor biosynthesis and genes encoding dinitrogenase are part of the same operon inBradyrhizobiumspecies

O. Mario Aguilar, Josef Taormino, Beat Thöny, Thomas Ramseier, Hauke Hennecke, Aladar A. Szalay

Journal:

Molecular Genetics and Genomics

Year:

1990

Language:

english

File:

PDF, 891 KB

english, 1990

21

Structural and functional homology between the α and β subunits of the nitrogenase MoFe protein as revealed by sequencing theRhizobium japonicum nifKgene

Beat Thöny, Klaus Kaluza, Hauke Hennecke

Journal:

Molecular Genetics and Genomics

Year:

1985

Language:

english

File:

PDF, 855 KB

english, 1985

22

Immunohistochemical localisation of pterin-4α-carbinolamine dehydratase in rat peripheral organs

A. Résibois, Laetitia Cuvelier, Michal Svoboda, Claus W. Heizmann, Beat Thöny

Journal:

Histochemistry and Cell Biology

Year:

1999

Language:

english

File:

PDF, 734 KB

english, 1999

23

Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria

Thomas Opladen, Marcel Zurflüh, Ilse Kern, Lucja Kierat, Beat Thöny, Nenad Blau

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 188 KB

english, 2005

24

Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 114 KB

english, 2010

25

Tetrahydrobiopterin in biomedical research

Nenad Blau, Beat Thöny

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 74 KB

english, 2009

26

Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

Thomas Opladen, Bettina Abu Seda, Anahita Rassi, Beat Thöny, Georg F. Hoffmann, Nenad Blau

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 252 KB

english, 2011

27

Erratum to: Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience

Thomas Opladen, Bettina Abu Seda, Anahita Rassi, Beat Thöny, Georg F. Hoffmann, Nenad Blau

Journal:

Journal of Inherited Metabolic Disease

Year:

2011

Language:

english

File:

PDF, 44 KB

english, 2011

28

Long-term glial cell line-derived neurotrophic factor overexpression in the intact nigrostriatal system in rats leads to a decrease of dopamine and increase of tetrahydrobiopterin production

Ali Sajadi, Matthias Bauer, Beat Thöny, Patrick Aebischer

Journal:

Journal of Neurochemistry

Year:

2005

Language:

english

File:

PDF, 175 KB

english, 2005

29

Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase

Beat Thöny, Ana C. Calvo, Tanja Scherer, Randi M. Svebak, Jan Haavik, Nenad Blau, Aurora Martinez

Journal:

Journal of Neurochemistry

Year:

2008

Language:

english

File:

PDF, 390 KB

english, 2008

30

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

Ana C. Calvo, Tanja Scherer, Angel L. Pey, Ming Ying, Ingeborg Winge, Jeffrey McKinney, Jan Haavik, Beat Thöny, Aurora Martinez

Journal:

Journal of Neurochemistry

Year:

2010

Language:

english

File:

PDF, 445 KB

english, 2010

31

The −24/−12 promoter comes of age

Beat Thöny, Hauke Hennecke

Journal:

FEMS Microbiology Letters

Year:

1989

Language:

english

File:

PDF, 1.40 MB

english, 1989

32

Ammonia Monitoring in Switzerland with Passive Samplers: Patterns, Determinants and Comparison with Modelled Concentrations

Lotti Thöni, Peter Brang, Sabine Braun, Eva Seitler, Beat Rihm

Journal:

Environmental Monitoring and Assessment

Year:

2004

Language:

english

File:

PDF, 525 KB

english, 2004

33

Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency

Stephanie Laufs, Seon Hee Kim, Sunyoung Kim, Nenad Blau, Beat Thöny

Journal:

The Journal of Gene Medicine

Year:

2000

Language:

english

File:

PDF, 159 KB

english, 2000

34

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

Christineh N. Sarkissian, Ming Ying, Tanja Scherer, Beat Thöny, Aurora Martinez

Journal:

Year:

2012

Language:

english

File:

PDF, 451 KB

english, 2012

35

Tetrahydrobiopterin in the Treatment of Infantile Hypertrophic Pyloric Stenosis

Christian P. Braegger, Marcus Schwöbel, Jakob von Känel, Ernst R. Werner, Beat Thöny, Nenad Blau

Journal:

Biochemical and Molecular Medicine

Year:

1997

Language:

english

File:

PDF, 95 KB

english, 1997

36

Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase : Modified cysteine residues inhibit the enzyme activity

Daniel M. BÜRGISSER, Beat THÖNY, Udo REDWEIK, Peter HUNZIKER, Claus W. HEIZMANN, Nenad BLAU

Journal:

Year:

1994

Language:

english

File:

PDF, 690 KB

english, 1994

37

Human Pterin-4α-Carbinolamine Dehydratase/Dimerization Cofactor of Hepatocyte Nuclear Factor-1α : Characterization and Kinetic Analysis of Wild-Type and Mutant Enzymes

Sandra Köster, Beat Thony, Peter Macheroux, Hans-Christoph Curtius, Claus W. Heizmann, Wolfgang Pfleiderer, Sandro Ghisla

Journal:

Year:

1995

Language:

english

File:

PDF, 1.17 MB

english, 1995

38

Chromosomal Localization, Genomic Structure and Characterization of the Human Gene and a Retropseudogene for 6-Pyruvoyltetrahydropterin Synthase

Claudia Kluge, Lukrecija Brecevic, Claus W. Heizmann, Nenad Blau, Beat Thöny

Journal:

Year:

1996

Language:

english

File:

PDF, 1.53 MB

english, 1996

39

Chromosomal Location of Two Human Genes Encoding Tetrahydrobiopterin-Metabolizing Enzymes: 6-Pyruvoyltetrahydropterin Synthase Maps to 11q22.3-q23.3, and Pterin-4α-Carbinolamine Dehydratase Maps to 10q22

Beat Thöny, Claus W. Heizmann, Marie-Geneviève Mattei

Journal:

Year:

1994

File:

PDF, 226 KB

1994

40

Molecular Heterogeneity of Nonphenylketonuria Hyperphenylalaninemia in 25 Danish Patients

Per Guldberg, Karen Friis Henriksen, Beat Thöny, Nenad Blau, Flemining Güttler

Journal:

Year:

1994

File:

PDF, 229 KB

1994

41

6-Pyruvoyl Tetrahydropterin Synthase, An Enzyme With a Novel Type of Active Site Involving Both Zinc Binding and an Intersubunit Catalytic Triad Motif; Site-directed Mutagenesis of the Proposed Active Center, Characterization of the Metal Binding Site and Modelling of substrate Binding

Daniel M. Bürgisser, Beat Thöny, Udo Redweik, Daniel Hess, Claus W. Heizmann, Robert Huber, Herbert Nar

Journal:

Journal of Molecular Biology

Year:

1995

Language:

english

File:

PDF, 3.43 MB

english, 1995

42

Crystallographic and kinetic investigations on the mechanism of 6-pyruvoyl tetrahydropterin synthase

Tarmo Ploom, Beat Thöny, Jeongbin Yim, Soojin Lee, Herbert Nar, Walter Leimbacher, John Richardson, Robert Huber, Günter Auerbach

Journal:

Journal of Molecular Biology

Year:

1999

Language:

english

File:

PDF, 373 KB

english, 1999

43

Tetrahydrobiopterin Deficiencies without Hyperphenylalaninemia: Diagnosis and Genetics of DOPA-Responsive Dystonia and Sepiapterin Reductase Deficiency

Nenad Blau, Luisa Bonafé, Beat Thöny

Journal:

Molecular Genetics and Metabolism

Year:

2001

Language:

english

File:

PDF, 591 KB

english, 2001

44

Detection of Sepiapterin in CSF of Patients with Sepiapterin Reductase Deficiency

Giovanna Zorzi, Udo Redweik, Heike Trippe, Johann M. Penzien, Beat Thöny, Nenad Blau

Journal:

Molecular Genetics and Metabolism

Year:

2002

Language:

english

File:

PDF, 42 KB

english, 2002

45

Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme

Beat Thöny, Walter Leimbacher, Daniel Bürgisser, Claus W. Heizmann

Journal:

Biochemical and Biophysical Research Communications

Year:

1992

Language:

english

File:

PDF, 1.43 MB

english, 1992

46

Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21–q22 and 2p14–p12, respectively, by in situ hybridization

Beat Thöny, Claus W. Heizmann, Marie-Geneviève Mattei

Journal:

Year:

1995

Language:

english

File:

PDF, 279 KB

english, 1995

47

Nuclear localization of tetrahydrobiopterin biosynthetic enzymes

Lina Elzaouk, Stephanie Laufs, Dirk Heerklotz, Walter Leimbacher, Nenad Blau, Annette Résibois, Beat Thöny

Journal:

Biochimica et Biophysica Acta (BBA) - General Subjects

Year:

2004

Language:

english

File:

PDF, 693 KB

english, 2004

48

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

Beat Thöny, Zhaobing Ding, Aurora Martı́nez

Journal:

Year:

2004

Language:

english

File:

PDF, 147 KB

english, 2004

49

Sepiapterin Reductase Deficiency: Clinical Presentation and Evaluation of Long-Term Therapy

Bernard Echenne, Agathe Roubertie, Birgit Assmann, Thomas Lutz, Johann M. Penzien, Beat Thöny, Nenad Blau, Georg F. Hoffmann

Journal:

Pediatric Neurology

Year:

2006

Language:

english

File:

PDF, 142 KB

english, 2006

50

The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria

Cary O Harding, Mark Neff, Krzysztof Wild, Kelly Jones, Lina Elzaouk, Beat Thöny, Sheldon Milstien

Journal:

Molecular Genetics and Metabolism

Year:

2004

Language:

english

File:

PDF, 186 KB

english, 2004