Associated Papers
Mouse models for inherited monoamine neurotransmitter disorders.
Thöny B et al.
Journal of Inherited Metabolic Disease, 2024
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA et al.
Human Genomics, 2022
Clinical, biochemical and molecular spectrum of mild 6-pyruvoyl-tetrahydropterin synthase deficiency and a case report.
Song B et al.
Fetal and Pediatric Pathology, 2021
Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice.
Korner G et al.
Journal of Inherited Metabolic Disease, 2016
Tetrahydrobiopterin: biochemistry and pathophysiology.
Werner ER et al.
The Biochemical Journal, 2011
Loss of post-translational modification sites in disease.
Li S et al.
Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing, 2010
Automated inference of molecular mechanisms of disease from amino acid substitutions.
Li B et al.
Bioinformatics (oxford, England), 2009
[Mutation analysis and one novel mutation detection of 6-pyruvoyl tetrahydropterin synthase gene in children with tetrahydrobiopterin deficiency].
Qu YJ et al.
Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae, 2008
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Thöny B et al.
Human Mutation, 2006
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
Blau N et al.
Human Mutation, 2000
Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.
Romstad A et al.
Clinical Chemistry, 1999
Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.
Scherer-Oppliger T et al.
The Journal of Biological Chemistry, 1999
Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients.
Imamura T et al.
Journal of Human Genetics, 1999
Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.
Liu TT et al.
Human Mutation, 1998
6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.
Hanihara T et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 1997
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Thöny B et al.
Human Mutation, 1997
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.
Oppliger T et al.
The Journal of Biological Chemistry, 1995
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
Thöny B et al.
American Journal of Human Genetics, 1994