Pey AL - Search Results

1

Structural dynamics at the active site of the cancer-associated flavoenzyme NQO1 probed by chemical modification with PMSF.

Grieco A, Ruiz-Fresneda MA, Gómez-Mulas A, Pacheco-García JL, Quereda-Moraleda I, Pey AL, Martin-Garcia JM. Grieco A, et al. Among authors: pey al. FEBS Lett. 2023 Nov;597(21):2687-2698. doi: 10.1002/1873-3468.14738. Epub 2023 Sep 30. FEBS Lett. 2023. PMID: 37726177 Free article.

2

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases.

Pey AL, Stricher F, Serrano L, Martinez A. Pey AL, et al. Am J Hum Genet. 2007 Nov;81(5):1006-24. doi: 10.1086/521879. Epub 2007 Oct 2. Am J Hum Genet. 2007. PMID: 17924342 Free PMC article.

3

Dimerization Drives Proper Folding of Human Alanine:Glyoxylate Aminotransferase But Is Dispensable for Peroxisomal Targeting.

Dindo M, Ambrosini G, Oppici E, Pey AL, O'Toole PJ, Marrison JL, Morrison IEG, Butturini E, Grottelli S, Costantini C, Cellini B. Dindo M, et al. Among authors: pey al. J Pers Med. 2021 Apr 6;11(4):273. doi: 10.3390/jpm11040273. J Pers Med. 2021. PMID: 33917320 Free PMC article.

4

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

Erlandsen H, Pey AL, Gámez A, Pérez B, Desviat LR, Aguado C, Koch R, Surendran S, Tyring S, Matalon R, Scriver CR, Ugarte M, Martínez A, Stevens RC. Erlandsen H, et al. Among authors: pey al. Proc Natl Acad Sci U S A. 2004 Nov 30;101(48):16903-8. doi: 10.1073/pnas.0407256101. Epub 2004 Nov 19. Proc Natl Acad Sci U S A. 2004. PMID: 15557004 Free PMC article.

5

Engineering proteins with tunable thermodynamic and kinetic stabilities.

Pey AL, Rodriguez-Larrea D, Bomke S, Dammers S, Godoy-Ruiz R, Garcia-Mira MM, Sanchez-Ruiz JM. Pey AL, et al. Proteins. 2008 Apr;71(1):165-74. doi: 10.1002/prot.21670. Proteins. 2008. PMID: 17932922

6

Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.

Pey AL, Albert A, Salido E. Pey AL, et al. Biomed Res Int. 2013;2013:687658. doi: 10.1155/2013/687658. Epub 2013 Jul 16. Biomed Res Int. 2013. PMID: 23956997 Free PMC article. Review.

7

Intrinsically disordered protein NUPR1 binds to the armadillo-repeat domain of Plakophilin 1.

Santofimia-Castaño P, Rizzuti B, Pey AL, Fárez-Vidal ME, Iovanna JL, Neira JL. Santofimia-Castaño P, et al. Among authors: pey al. Int J Biol Macromol. 2021 Feb 15;170:549-560. doi: 10.1016/j.ijbiomac.2020.12.193. Epub 2020 Dec 29. Int J Biol Macromol. 2021. PMID: 33385445

8

Towards Accurate Genotype-Phenotype Correlations in the CYP2D6 Gene.

Pey AL. Pey AL. J Pers Med. 2020 Oct 8;10(4):158. doi: 10.3390/jpm10040158. J Pers Med. 2020. PMID: 33049937 Free PMC article.

9

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.

Pey AL, Desviat LR, Gámez A, Ugarte M, Pérez B. Pey AL, et al. Hum Mutat. 2003 Apr;21(4):370-8. doi: 10.1002/humu.10198. Hum Mutat. 2003. PMID: 12655546

10

Mechanisms underlying responsiveness to tetrahydrobiopterin in mild phenylketonuria mutations.

Pey AL, Pérez B, Desviat LR, Martínez MA, Aguado C, Erlandsen H, Gámez A, Stevens RC, Thórólfsson M, Ugarte M, Martínez A. Pey AL, et al. Hum Mutat. 2004 Nov;24(5):388-99. doi: 10.1002/humu.20097. Hum Mutat. 2004. PMID: 15459954

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