Martinez A - Search Results

1

Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria.

Wettstein S, Underhaug J, Perez B, Marsden BD, Yue WW, Martinez A, Blau N. Wettstein S, et al. Among authors: martinez a. Eur J Hum Genet. 2015 Mar;23(3):302-9. doi: 10.1038/ejhg.2014.114. Epub 2014 Jun 18. Eur J Hum Genet. 2015. PMID: 24939588 Free PMC article.

2

The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.

Knappskog PM, Eiken HG, Martinez A, Flatmark T, Apold J. Knappskog PM, et al. Among authors: martinez a. Hum Genet. 1995 Feb;95(2):171-3. doi: 10.1007/BF00209396. Hum Genet. 1995. PMID: 7860062

3

Partial characterization and three-dimensional-structural localization of eight mutations in exon 7 of the human phenylalanine hydroxylase gene associated with phenylketonuria.

Bjørgo E, Knappskog PM, Martinez A, Stevens RC, Flatmark T. Bjørgo E, et al. Among authors: martinez a. Eur J Biochem. 1998 Oct 1;257(1):1-10. doi: 10.1046/j.1432-1327.1998.2570001.x. Eur J Biochem. 1998. PMID: 9799096 Free article.

4

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. Among authors: martinez ma, martinez a. Hum Mutat. 2004 Nov;24(5):388-99. doi: 10.1002/humu.20097. Hum Mutat. 2004. PMID: 15459954

5

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: martinez a. 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.

6

Conformational flexibility of alpha-lactalbumin related to its membrane binding capacity.

Halskau O, Underhaug J, Frøystein NA, Martínez A. Halskau O, et al. Among authors: martinez a. J Mol Biol. 2005 Jun 24;349(5):1072-86. doi: 10.1016/j.jmb.2005.04.020. J Mol Biol. 2005. PMID: 15913646

7

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients.

Pérez B, Desviat LR, Gómez-Puertas P, Martínez A, Stevens RC, Ugarte M. Pérez B, et al. Among authors: martinez a. Mol Genet Metab. 2005 Dec;86 Suppl 1:S11-6. doi: 10.1016/j.ymgme.2005.06.009. Epub 2005 Aug 8. Mol Genet Metab. 2005. PMID: 16091306 Review.

8

Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice.

Scavelli R, Ding Z, Blau N, Haavik J, Martínez A, Thöny B. Scavelli R, et al. Among authors: martinez a. Mol Genet Metab. 2005 Dec;86 Suppl 1:S153-5. doi: 10.1016/j.ymgme.2005.09.015. Epub 2005 Nov 11. Mol Genet Metab. 2005. PMID: 16290004

9

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. Among authors: martinez a. 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.

10

Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase.

Thöny B, Calvo AC, Scherer T, Svebak RM, Haavik J, Blau N, Martinez A. Thöny B, et al. Among authors: martinez a. J Neurochem. 2008 Jul;106(2):672-81. doi: 10.1111/j.1471-4159.2008.05423.x. Epub 2008 Apr 14. J Neurochem. 2008. PMID: 18419768 Free article.

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