Martínez A - Search Results

1

Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.

Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B. Gallego D, et al. Among authors: martinez a. Hum Mutat. 2020 Jul;41(7):1329-1338. doi: 10.1002/humu.24026. Epub 2020 Apr 30. Hum Mutat. 2020. PMID: 32333439 Free article.

2

PKU mutation (D143G) associated with an apparent high residual enzyme activity: expression of a kinetic variant form of phenylalanine hydroxylase in three different systems.

Knappskog PM, Eiken HG, Martínez A, Bruland O, Apold J, Flatmark T. Knappskog PM, et al. Among authors: martinez a. Hum Mutat. 1996;8(3):236-46. doi: 10.1002/(SICI)1098-1004(1996)8:3<236::AID-HUMU7>3.0.CO;2-7. Hum Mutat. 1996. PMID: 8889583

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

4

Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase.

Pey AL, Thórólfsson M, Teigen K, Ugarte M, Martínez A. Pey AL, et al. Among authors: martinez a. J Am Chem Soc. 2004 Oct 27;126(42):13670-8. doi: 10.1021/ja047713s. J Am Chem Soc. 2004. PMID: 15493924

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

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.

7

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Brasil S, Underhaug J, Ruíz-Sala P, Merinero B, Banerjee R, Desviat LR, Ugarte M, Martinez A, Pérez B. Jorge-Finnigan A, et al. Among authors: martinez a. Hum Mol Genet. 2013 Sep 15;22(18):3680-9. doi: 10.1093/hmg/ddt217. Epub 2013 May 13. Hum Mol Genet. 2013. PMID: 23674520 Free PMC article.

8

Functional studies of tyrosine hydroxylase missense variants reveal distinct patterns of molecular defects in Dopa-responsive dystonia.

Fossbakk A, Kleppe R, Knappskog PM, Martinez A, Haavik J. Fossbakk A, et al. Among authors: martinez a. Hum Mutat. 2014 Jul;35(7):880-90. doi: 10.1002/humu.22565. Epub 2014 Jun 3. Hum Mutat. 2014. PMID: 24753243 Free PMC article.

9

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.

10

Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG.

Yuste-Checa P, Brasil S, Gámez A, Underhaug J, Desviat LR, Ugarte M, Pérez-Cerdá C, Martinez A, Pérez B. Yuste-Checa P, et al. Among authors: martinez a. Hum Mutat. 2017 Feb;38(2):160-168. doi: 10.1002/humu.23138. Epub 2016 Nov 21. Hum Mutat. 2017. PMID: 27774737

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