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RESEARCH ARTICLEM echanisms Underlying Responsiveness toTetrahydrobiopterin in mild PhenylketonuriaMutationsAngel L. Pey,1 Bele nPe rez,1 Lourdes R. Desviat,1 MaAngeles Mart nez,1 Cristina Aguado,1 Heidi Erlandsen,2 Alejandra Ga mez,2 Raymond C. Stevens,2 Matth as Tho ro lfsson,3 Magdalena Ugarte,1nand Aurora Mart nez31 Centro de Biolog a Molecular Severo Ochoa, CSIC-Universidad Auto noma de Madrid, Madrid, Spain;2 The Scripps Research Institute,Department of Molecular Biology, La Jolla, California;3 Department of Biomedicine, University of Bergen, Bergen, NorwayCommunicated by Linda TyfieldA subtype of phenylalanine hydroxylase (PAH) deficiency that responds to cofactor ( tetrahydrobiopterin , BH4)supplementation has been associated with phenylketonuria (PKU) mutations. The Underlying molecularmechanism of this Responsiveness is as yet unknown and requires a detailed in vitro expression analysis of theassociated mutations.
RESEARCH ARTICLE Mechanisms Underlying Responsiveness to Tetrahydrobiopterin in Mild Phenylketonuria Mutations Angel L. Pey,1 Bele´nPe´rez,1 Lourdes R. Desviat,1 Ma Angeles Martı´nez,1 Cristina Aguado,1 Heidi Erlandsen,2 Alejandra Ga´mez,2 Raymond C. Stevens,2 Matthı ´as Thoro´lfsson,3 Magdalena Ugarte,1n and Aurora Martı´nez3 1Centro de Biologı ´a Molecular Severo …
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