Ángel L. Pey

Predicted Effects of Missense Mutations on Native-State Stability Account for Phenotypic Outcome in Phenylketonuria, a Paradigm of Misfolding Diseases

Ángel L. Pey, François Stricher, Luís Serrano et al. · The American Journal of Human Genetics · 2007 · 181 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

Heidi Erlandsen, Ángel L. Pey, Alejandra Gámez et al. · Proceedings of the National Academy of Sciences · 2004 · 173 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +16

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

Ángel L. Pey, Ming Ying, Nunilo Cremades et al. · Journal of Clinical Investigation · 2008 · 167 citations · Full text

Life Sciences, Biochemistry, Pharmacology +16

Phenylketonuria: Genotype-phenotype correlations based on expression analysis of structural and functional mutations in<i>PAH</i>

Ángel L. Pey, Lourdes R. Desviat, Alejandra Gámez et al. · Human Mutation · 2003 · 138 citations · Full text

Life Sciences, Biochemistry, Genetics +17

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations

Ángel L. Pey, Belén Pérez, Lourdes R. Desviat et al. · Human Mutation · 2004 · 125 citations

Life Sciences, Genetics, Molecular Genetics +15