Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.

doi:10.1212/wnl.52.1.182

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Article

Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia.

Neurology - 1 Jan 1999

Hirano M, Ueno S

Abstract excerpt

Guanosine 5'-triphosphate cyclohydrolase I (GCH) mutants (H144P and T186K) associated with dominant dopa-responsive dystonia were enzymatically inactive and inhibited the normal enzyme, suggesting that GCH activity in a heterozygote was <50% of control. The M211I mutant associated with recessive...

Topics

Animals
COS Cells
Dystonia
Enzyme Activation
GTP Cyclohydrolase
Gene Expression Regulation, Enzymologic
Genes, Dominant
Genes, Recessive
Humans
Mutation, Missense
Phenotype
Phenylalanine
RNA, Messenger
Transfection

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