Pey AL - Search Results

1

Molecular Mechanisms, Genotype-Phenotype Correlations and Patient-Specific Treatments in Inherited Metabolic Diseases.

Pey AL. Pey AL. J Pers Med. 2023 Jan 5;13(1):117. doi: 10.3390/jpm13010117. J Pers Med. 2023. PMID: 36675778 Free PMC article.

2

The regulatory subunit of PKA-I remains partially structured and undergoes β-aggregation upon thermal denaturation.

Dao KK, Pey AL, Gjerde AU, Teigen K, Byeon IJ, Døskeland SO, Gronenborn AM, Martinez A. Dao KK, et al. Among authors: pey al. PLoS One. 2011 Mar 4;6(3):e17602. doi: 10.1371/journal.pone.0017602. PLoS One. 2011. PMID: 21394209 Free PMC article.

3

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

4

Structure of phenylalanine hydroxylase from Colwellia psychrerythraea 34H, a monomeric cold active enzyme with local flexibility around the active site and high overall stability.

Leiros HK, Pey AL, Innselset M, Moe E, Leiros I, Steen IH, Martinez A. Leiros HK, et al. Among authors: pey al. J Biol Chem. 2007 Jul 27;282(30):21973-86. doi: 10.1074/jbc.M610174200. Epub 2007 May 30. J Biol Chem. 2007. PMID: 17537732 Free article.

5

Iron binding effects on the kinetic stability and unfolding energetics of a thermophilic phenylalanine hydroxylase from Chloroflexus aurantiacus.

Pey AL, Martinez A. Pey AL, et al. J Biol Inorg Chem. 2009 May;14(4):521-31. doi: 10.1007/s00775-009-0467-y. Epub 2009 Jan 20. J Biol Inorg Chem. 2009. PMID: 19153779

6

Tetrahydrobiopterin for patients with phenylketonuria.

Pey AL, Martinez A. Pey AL, et al. Lancet. 2007 Aug 11;370(9586):462-3. doi: 10.1016/S0140-6736(07)61209-4. Lancet. 2007. PMID: 17693159 No abstract available.

7

Biochemical characterization of mutant phenylalanine hydroxylase enzymes and correlation with clinical presentation in hyperphenylalaninaemic patients.

Dobrowolski SF, Pey AL, Koch R, Levy H, Ellingson CC, Naylor EW, Martinez A. Dobrowolski SF, et al. Among authors: pey al. J Inherit Metab Dis. 2009 Feb;32(1):10-21. doi: 10.1007/s10545-008-0942-6. Epub 2008 Oct 21. J Inherit Metab Dis. 2009. PMID: 18937047

8

Rescuing proteins of low kinetic stability by chaperones and natural ligands phenylketonuria, a case study.

Martinez A, Calvo AC, Teigen K, Pey AL. Martinez A, et al. Among authors: pey al. Prog Mol Biol Transl Sci. 2008;83:89-134. doi: 10.1016/S0079-6603(08)00603-X. Prog Mol Biol Transl Sci. 2008. PMID: 19186253 No abstract available.

9

Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.

Calvo AC, Scherer T, Pey AL, Ying M, Winge I, McKinney J, Haavik J, Thöny B, Martinez A. Calvo AC, et al. Among authors: pey al. J Neurochem. 2010 Aug;114(3):853-63. doi: 10.1111/j.1471-4159.2010.06821.x. Epub 2010 May 18. J Neurochem. 2010. PMID: 20492352 Free article.

We have recently identified four compounds (I-IV) with pharmacological chaperone effect for PAH and phenylketonuria mutants (Pey et al. (2008) J. Clin. Invest. 118, 2858-2867). We have now investigated the effect of these compounds on the brain enzymes TH and TPH2, …

We have recently identified four compounds (I-IV) with pharmacological chaperone effect for PAH and phenylketonuria mutants (Pey et …

10

Phenylalanine hydroxylase expression in primary rat hepatocytes is modulated by oxygen concentration.

Ying M, Pey AL, Aarsaether N, Martinez A. Ying M, et al. Among authors: pey al. Mol Genet Metab. 2010 Oct-Nov;101(2-3):279-81. doi: 10.1016/j.ymgme.2010.06.013. Epub 2010 Jun 25. Mol Genet Metab. 2010. PMID: 20638309

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