|Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations|
H Erlandsen, AL Pey, A Gámez, B Pérez, LR Desviat, C Aguado, R Koch, ...
Proceedings of the National Academy of Sciences 101 (48), 16903-16908, 2004
|Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases|
AL Pey, F Stricher, L Serrano, A Martinez
The American Journal of Human Genetics 81 (5), 1006-1024, 2007
|Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria|
AL Pey, M Ying, N Cremades, A Velazquez-Campoy, T Scherer, B Thöny, ...
The Journal of clinical investigation 118 (8), 2858-2867, 2008
|Phenylketonuria: Genotype–phenotype correlations based on expression analysis of structural and functional mutations in PAH|
AL Pey, LR Desviat, A Gámez, M Ugarte, B Pérez
Human mutation 21 (4), 370-378, 2003
|Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations|
AL Pey, B Pérez, LR Desviat, MA Martínez, C Aguado, H Erlandsen, ...
Human mutation 24 (5), 388-399, 2004
|Primary hyperoxalurias: disorders of glyoxylate detoxification|
E Salido, AL Pey, R Rodriguez, V Lorenzo
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1822 (9 …, 2012
|Effects of prolonged stanozolol treatment on antioxidant enzyme activities, oxidative stress markers, and heat shock protein HSP72 levels in rat liver|
A Pey, A Saborido, I Blázquez, J Delgado, A Megı́as
The Journal of steroid biochemistry and molecular biology 87 (4-5), 269-277, 2003
|Structure of phenylalanine hydroxylase from Colwellia psychrerythraea 34H, a monomeric cold active enzyme with local flexibility around the active site and high overall stability|
HKS Leiros, AL Pey, M Innselset, E Moe, I Leiros, IH Steen, A Martinez
Journal of Biological Chemistry 282 (30), 21973-21986, 2007
|Human cystathionine beta-synthase (CBS) contains two classes of binding sites for S-adenosyl-L-methionine (SAM): complex regulation of CBS activity and stability by SAM.|
AL Pey, T Majtan, JM Sanchez-Ruiz, JP Kraus
Biochemical Journal 449 (1), 109-121, 2013
|Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with …|
AL Pey, E Salido, JM Sanchez-Ruiz
Amino acids 41 (5), 1233-1245, 2011
|The role of protein denaturation energetics and molecular chaperones in the aggregation and mistargeting of mutants causing primary hyperoxaluria type I|
N Mesa-Torres, I Fabelo-Rosa, D Riverol, C Yunta, A Albert, E Salido, ...
PLoS One 8 (8), e71963, 2013
|The activity of wild-type and mutant phenylalanine hydroxylase and its regulation by phenylalanine and tetrahydrobiopterin at physiological and pathological concentrations: an …|
AL Pey, A Martinez
Molecular genetics and metabolism 86, 43-53, 2005
|Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase|
AL Pey, M Thórólfsson, K Teigen, M Ugarte, A Martínez
Journal of the American Chemical Society 126 (42), 13670-13678, 2004
|Specific interaction of the diastereomers 7 (R)-and 7 (S)-tetrahydrobiopterin with phenylalanine hydroxylase: implications for understanding primapterinuria and vitiligo|
AL Pey, A Martinez, R Charubala, DJ Maitland, K Teigen, A Calvo, ...
The FASEB journal 20 (12), 2130-2132, 2006
|Engineering proteins with tunable thermodynamic and kinetic stabilities|
AL Pey, D Rodriguez‐Larrea, S Bomke, S Dammers, R Godoy‐Ruiz, ...
Proteins: Structure, Function, and Bioinformatics 71 (1), 165-174, 2008
|Rescuing proteins of low kinetic stability by chaperones and natural ligands: phenylketonuria, a case study|
A Martinez, AC Calvo, K Teigen, AL Pey
Progress in molecular biology and translational science 83, 89-134, 2008
|Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients|
SF Dobrowolski, AL Pey, R Koch, H Levy, CC Ellingson, EW Naylor, ...
Journal of inherited metabolic disease 32 (1), 10, 2009
|FAD binding overcomes defects in activity and stability displayed by cancer-associated variants of human NQO1|
AL Pey, CF Megarity, DJ Timson
Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1842 (11 …, 2014
|Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2|
AC Calvo, T Scherer, AL Pey, M Ying, I Winge, J McKinney, J Haavik, ...
Journal of neurochemistry 114 (3), 853-863, 2010
|Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase|
TJ McCorvie, J Kopec, AL Pey, F Fitzpatrick, D Patel, R Chalk, L Shrestha, ...
Human molecular genetics 25 (11), 2234-2244, 2016