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D-Index & Metrics

Molecular Biology

D-Index
58
Citations
11613
World Ranking
2093
National Ranking
34

Overview

Beat Thöny is affiliated with the University of Zurich in Switzerland. Their research spans primarily across the fields of Biochemistry, Genetics, and Molecular Biology, as well as Medicine. Within these broad areas, they have contributed notably to subfields including Molecular Biology, Clinical Biochemistry, Biochemistry, Physiology, and Genetics.

Their work focuses on several key topics:

  • Metabolism and Genetic Disorders
  • CRISPR and Genetic Engineering
  • Amino Acid Enzymes and Metabolism
  • Diet and Metabolism Studies
  • Virus-based Gene Therapy Research
  • RNA Regulation and Disease
  • Neonatal Health and Biochemistry

Beat Thöny has authored numerous research papers published in prominent venues. Frequent publication venues include:

  • Molecular Genetics and Metabolism
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Nature Biotechnology
  • Molecular Therapy
  • Journal of Inherited Metabolic Disease

Notable recent publications are:

  • In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels, 2021, Nature Biotechnology
  • Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes, 2021, Molecular Therapy
  • Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes, 2023, Molecular Genetics and Metabolism
  • Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit, 2022, Journal of Inherited Metabolic Disease
  • Peripheral biopterin and neopterin in schizophrenia and depression, 2021, Psychiatry Research

Collaborations form an integral part of Beat Thöny's research network. Frequent co-authors include:

  • Nicole Rimann
  • Nastassja Himmelreich
  • Mriarita Bertoldi
  • Nenad Blau
  • Johannes Häberle

Best Publications

  • Tetrahydrobiopterin biosynthesis, regeneration and functions.

    Beat Thöny;Günter Auerbach;Nenad Blau

  • Tetrahydrobiopterin: biochemistry and pathophysiology.

    Ernst R. Werner;Nenad Blau;Beat Thöny

  • Treatment of a metabolic liver disease by in vivo genome base editing in adult mice

    Lukas Villiger;Hiu Man Grisch-Chan;Helen Lindsay;Helen Lindsay;Femke Ringnalda

  • Epidermal H2O2 accumulation alters tetrahydrobiopterin (6BH4) recycling in vitiligo: Identification of a general mechanism in regulation of all 6BH4-Dependent processes?

    Karin U. Schallreuter;Jeremy Moore;John M. Wood;Wayne D. Beazley

  • The Genetic Landscape and Epidemiology of Phenylketonuria

    Alicia Hillert;Yair Anikster;Amaya Belanger-Quintana;Alberto Burlina

  • In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels.

    Tanja Rothgangl;Melissa K Dennis;Paulo J C Lin;Rurika Oka

  • Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

    Luisa Bonafé;Beat Thöny;Johann M. Penzien;Barbara Czarnecki

  • Influence of Early Stress on Social Abilities and Serotonergic Functions across Generations in Mice

    Tamara B. Franklin;Natacha Linder;Holger Russig;Beat Thöny

  • 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

  • The −24/−12 promoter comes of age

    Beat Thöny;Hauke Hennecke

  • Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency†

    Marcel R. Zurflüh;Johannes Zschocke;Martin Lindner;François Feillet

  • Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.

    Nenad Blau;Luisa Bonafé;Beat Thöny

  • Concurrent evolution of nitrogenase genes and 16S rRNA in Rhizobium species and other nitrogen fixing bacteria

    H. Hennecke;K. Kaluza;B. Thöny;M. Fuhrmann

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

    Angel L. Pey;Ming Ying;Nunilo Cremades;Adrian Velazquez-Campoy

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

    Yair Anikster;Yair Anikster;Tobias B. Haack;Thierry Vilboux;Ben Pode-Shakked;Ben Pode-Shakked

  • A novel binding protein of the origin of the Escherichia coli chromosome.

    Kirsten Skarstad;Beat Thöny;Deog Su Hwang;Arthur Kornberg

  • Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.

    Betina Fiege;Diana Ballhausen;Lucja Kierat;Walter Leimbacher

  • Regulation of Tetrahydrobiopterin Biosynthesis by Shear Stress

    Julian D. Widder;Wei Chen;Li Li;Sergey Dikalov

  • State-of-the-art 2003 on PKU gene therapy

    Zhaobing Ding;Cary O Harding;Beat Thöny

  • Mutations in human monoamine-related neurotransmitter pathway genes.

    Jan Haavik;Nenad Blau;Beat Thöny;Beat Thöny

Frequent Co-Authors

Nenad Blau
Nenad Blau University of Zurich
Claus W. Heizmann
Claus W. Heizmann University of Zurich
Aurora Martinez
Aurora Martinez University of Bergen
Georg F. Hoffmann
Georg F. Hoffmann University Hospital Heidelberg
Hauke Hennecke
Hauke Hennecke ETH Zurich
Marinee Chuah
Marinee Chuah KU Leuven
Thierry VandenDriessche
Thierry VandenDriessche Vrije Universiteit Brussel
Jan Haavik
Jan Haavik University of Bergen
Robert Huber
Robert Huber University of Duisburg-Essen
Herbert Nar
Herbert Nar Boehringer Ingelheim (Germany)

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