13023_2015_375_MOESM2_ESM.tif (1.4 MB)
Additional file 2: Figure S2. of Genotype-phenotype associations in French patients with phenylketonuria and importance of genotype for full assessment of tetrahydrobiopterin responsiveness
figure
posted on 2015-12-15, 05:00 authored by Elise Jeannesson-Thivisol, François Feillet, Céline Chéry, Pascal Perrin, Shyue-Fang Battaglia-Hsu, Bernard Herbeth, Aline Cano, Magalie Barth, Alain Fouilhoux, Karine Mention, François Labarthe, Jean-Baptiste Arnoux, François Maillot, Catherine Lenaerts, Cécile Dumesnil, Kathy Wagner, Daniel Terral, Pierre Broué, Loïc de Parscau, Claire Gay, Alice Kuster, Antoine Bédu, Gérard Besson, Delphine Lamireau, Sylvie Odent, Alice Masurel, Jean-Louis Guéant, Fares NamourThe 5 mutations identified in this study as being BH4-responsive are localized in the catalytic domain of phenylalanine hydroxylase. The PAH monomer is drawn as a ribbon representation complexed with tetrahydrobiopterin (BH4 orange balls), thienylalanine (analog substrate) and iron (red sphere). The N-terminal regulatory domain (residues 103 – 142) is in blue, the catalytic domain (residues 143–410) is in green and the dimerization motif (residues 411–427) is in purple. Mutated aminoacids are indicated in red. (TIF 1429 kb)
