Aurora Martı́nez

cAMP Analog Mapping of Epac1 and cAMP Kinase

Anne Elisabeth Christensen, Frode Selheim, Johan de Rooij et al. · Journal of Biological Chemistry · 2003 · 399 citations · Full text

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 · 178 citations · Full text

Biology, Missense Mutations, Misfolding Diseases +9

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 · 169 citations · Full text

Protein Chemistry, Aldehyde Dehydrogenase, Aldo-keto Reductase +10

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 · 164 citations · Full text

Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Yair Anikster, Tobias B. Haack, Thierry Vilboux et al. · The American Journal of Human Genetics · 2017 · 149 citations · Full text

Genome Instability, Biallelic Mutations, Mendelian Disorder +8