Article
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.
The Journal of biological chemistry - 8 Dec 1995
Oppliger T, Thöny B, Nar H, Bürgisser D, Huber R, Heizmann C W, Blau N
Abstract excerpt
Four naturally occurring mutants with single amino acid alterations in human 6-pyruvoyltetrahydropterin synthase (PTPS) were overexpressed and characterized in vitro. The corresponding DNA mutations were found in patients with hyperphenylalaninemia and monoamine neurotransmitter insufficiency due to lack of the tetrahydrobiopterin biosynthetic enzyme PTPS. To predict the structure of the mutant enzymes, computer...
Topics
- Alcohol Oxidoreductases
- Amino Acid Sequence
- Animals
- Base Sequence
- Cells, Cultured
- Humans
- Molecular Sequence Data
- Mutation
- Phenylalanine
- Phosphorus-Oxygen Lyases