Gámez A - Search Results

1

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.

Vega AI, Pérez-Cerdá C, Abia D, Gámez A, Briones P, Artuch R, Desviat LR, Ugarte M, Pérez B. Vega AI, et al. Among authors: gamez a. J Inherit Metab Dis. 2011 Aug;34(4):929-39. doi: 10.1007/s10545-011-9328-2. Epub 2011 May 4. J Inherit Metab Dis. 2011. PMID: 21541725

2

Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions.

Desviat LR, Pérez B, Gámez A, Sánchez A, García MJ, Martínez-Pardo M, Marchante C, Bóveda D, Baldellou A, Arena J, Sanjurjo P, Fernández A, Cabello ML, Ugarte M. Desviat LR, et al. Among authors: gamez a. Eur J Hum Genet. 1999 Apr;7(3):386-92. doi: 10.1038/sj.ejhg.5200312. Eur J Hum Genet. 1999. PMID: 10234516

3

Expression analysis of phenylketonuria mutations. Effect on folding and stability of the phenylalanine hydroxylase protein.

Gámez A, Pérez B, Ugarte M, Desviat LR. Gámez A, et al. J Biol Chem. 2000 Sep 22;275(38):29737-42. doi: 10.1074/jbc.M003231200. J Biol Chem. 2000. PMID: 10875932 Free article.

4

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. Among authors: gamez a. Hum Mutat. 2003 Apr;21(4):370-8. doi: 10.1002/humu.10198. Hum Mutat. 2003. PMID: 12655546

5

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: gamez a. Hum Mutat. 2004 Nov;24(5):388-99. doi: 10.1002/humu.20097. Hum Mutat. 2004. PMID: 15459954

6

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: gamez 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.

7

Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

Jorge-Finnigan A, Aguado C, Sánchez-Alcudia R, Abia D, Richard E, Merinero B, Gámez A, Banerjee R, Desviat LR, Ugarte M, Pérez B. Jorge-Finnigan A, et al. Among authors: gamez a. Hum Mutat. 2010 Sep;31(9):1033-42. doi: 10.1002/humu.21307. Hum Mutat. 2010. PMID: 20556797 Free PMC article.

8

Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.

Jorge-Finnigan A, Gámez A, Pérez B, Ugarte M, Richard E. Jorge-Finnigan A, et al. Among authors: gamez a. Biochim Biophys Acta. 2010 Nov;1802(11):959-67. doi: 10.1016/j.bbadis.2010.08.002. Epub 2010 Aug 6. Biochim Biophys Acta. 2010. PMID: 20696242 Free article.

9

Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.

Yuste-Checa P, Medrano C, Gámez A, Desviat LR, Matthijs G, Ugarte M, Pérez-Cerdá C, Pérez B. Yuste-Checa P, et al. Among authors: gamez a. Clin Genet. 2015;87(1):42-8. doi: 10.1111/cge.12402. Epub 2014 May 22. Clin Genet. 2015. PMID: 24720419

10

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein.

Yuste-Checa P, Gámez A, Brasil S, Desviat LR, Ugarte M, Pérez-Cerdá C, Pérez B. Yuste-Checa P, et al. Among authors: gamez a. Hum Mutat. 2015 Sep;36(9):851-60. doi: 10.1002/humu.22817. Epub 2015 Jul 23. Hum Mutat. 2015. PMID: 26014514 Free article.

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