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Alchemical Design of Pharmacological Chaperones with Higher Affinity for Phenyl...

Conde-Giménez, María; Galano-Frutos, Juan José; Galiana-Cameo, María; Mahía, Alejandro; Victor, Bruno L.; Salillas, Sandra; Velázquez-Campoy, Adrián

Phenylketonuria (PKU) is a rare metabolic disease caused by variations in a human gene, PAH, encoding phenylalanine hydroxylase (PAH), and the enzyme converting the essential amino acid phenylalanine into tyrosine. Many PKU-causing variations compromise the conformational stability of the encoded enzyme, decreasing or abolishing its catalytic activity, and leading to an elevated concentration of phenylalanine i...

Date: 2022   |   Origin: Estudo Geral - Universidade de Coimbra
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