Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.

Pey, Angel L; Pérez, Belén; Desviat, Lourdes R; Martínez, Maria Angeles; Aguado, Cristina; Erlandsen, Heidi; Gámez, Alejandra; Stevens, Raymond C; Thórólfsson, Matthías; Ugarte, Magdalena; Martínez, Aurora

Pey, Angel L; Pérez, Belén; Desviat, Lourdes R; Martínez, Maria Angeles; Aguado, Cristina; Erlandsen, Heidi; Gámez, Alejandra; Stevens, Raymond C; Thórólfsson, Matthías; Ugarte, Magdalena; Martínez, Aurora.

Affiliation

Pey AL; Centro de Biología Molecular Severo Ochoa, CSIC-Universidad Autónoma de Madrid, Madrid, Spain.

Hum Mutat ; 24(5): 388-99, 2004 Nov.

Article in En | MEDLINE | ID: mdl-15459954

Subject(s)

Biopterins/analogs & derivatives; Biopterins/metabolism; Mutation/genetics; Phenylalanine Hydroxylase/genetics; Phenylalanine Hydroxylase/metabolism; Phenylketonurias/enzymology; Phenylketonurias/genetics; Biopterins/pharmacology; Calorimetry; Catalysis/drug effects; Cell-Free System; Escherichia coli/genetics; Half-Life; Humans; Kinetics; Models, Molecular; Molecular Sequence Data; Phenylalanine Hydroxylase/chemistry; Phenylalanine Hydroxylase/deficiency; Protein Binding; Protein Biosynthesis; Protein Conformation; Recombinant Proteins/genetics; Recombinant Proteins/metabolism; Thermodynamics; Transcription, Genetic

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Collection: 01-internacional Database: MEDLINE Main subject: Phenylalanine Hydroxylase / Phenylketonurias / Biopterins / Mutation Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2004 Document type: Article Affiliation country: Spain Country of publication: United States

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