Marco-Marín C - Search Results

1

Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.

Arranz JA, Riudor E, Marco-Marín C, Rubio V. Arranz JA, et al. J Inherit Metab Dis. 2007 Apr;30(2):217-26. doi: 10.1007/s10545-007-0429-x. Epub 2007 Mar 1. J Inherit Metab Dis. 2007. PMID: 17334707

2

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy.

Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C. Martínez-Rubio D, et al. Among authors: marco marin c. Int J Mol Sci. 2023 Nov 16;24(22):16400. doi: 10.3390/ijms242216400. Int J Mol Sci. 2023. PMID: 38003592 Free PMC article.

3

Site-directed mutagenesis of Escherichia coli acetylglutamate kinase and aspartokinase III probes the catalytic and substrate-binding mechanisms of these amino acid kinase family enzymes and allows three-dimensional modelling of aspartokinase.

Marco-Marín C, Ramón-Maiques S, Tavárez S, Rubio V. Marco-Marín C, et al. J Mol Biol. 2003 Nov 28;334(3):459-76. doi: 10.1016/j.jmb.2003.09.038. J Mol Biol. 2003. PMID: 14623187

4

First-time crystallization and preliminary X-ray crystallographic analysis of a bacterial-archaeal type UMP kinase, a key enzyme in microbial pyrimidine biosynthesis.

Marco-Marín C, Escamilla-Honrubia JM, Rubio V. Marco-Marín C, et al. Biochim Biophys Acta. 2005 Mar 14;1747(2):271-5. doi: 10.1016/j.bbapap.2004.11.010. Epub 2004 Dec 9. Biochim Biophys Acta. 2005. PMID: 15698963

5

Understanding carbamoyl phosphate synthetase deficiency: impact of clinical mutations on enzyme functionality.

Yefimenko I, Fresquet V, Marco-Marín C, Rubio V, Cervera J. Yefimenko I, et al. J Mol Biol. 2005 May 27;349(1):127-41. doi: 10.1016/j.jmb.2005.03.078. Epub 2005 Apr 12. J Mol Biol. 2005. PMID: 15876373

6

The crystal structure of Pyrococcus furiosus UMP kinase provides insight into catalysis and regulation in microbial pyrimidine nucleotide biosynthesis.

Marco-Marín C, Gil-Ortiz F, Rubio V. Marco-Marín C, et al. J Mol Biol. 2005 Sep 16;352(2):438-54. doi: 10.1016/j.jmb.2005.07.045. J Mol Biol. 2005. PMID: 16095620

7

A novel two-domain architecture within the amino acid kinase enzyme family revealed by the crystal structure of Escherichia coli glutamate 5-kinase.

Marco-Marín C, Gil-Ortiz F, Pérez-Arellano I, Cervera J, Fita I, Rubio V. Marco-Marín C, et al. J Mol Biol. 2007 Apr 13;367(5):1431-46. doi: 10.1016/j.jmb.2007.01.073. Epub 2007 Feb 3. J Mol Biol. 2007. PMID: 17321544

8

The crystal structure of the complex of PII and acetylglutamate kinase reveals how PII controls the storage of nitrogen as arginine.

Llácer JL, Contreras A, Forchhammer K, Marco-Marín C, Gil-Ortiz F, Maldonado R, Fita I, Rubio V. Llácer JL, et al. Proc Natl Acad Sci U S A. 2007 Nov 6;104(45):17644-9. doi: 10.1073/pnas.0705987104. Epub 2007 Oct 24. Proc Natl Acad Sci U S A. 2007. PMID: 17959776 Free PMC article.

9

The site for the allosteric activator GTP of Escherichia coli UMP kinase.

Marco-Marín C, Rubio V. Marco-Marín C, et al. FEBS Lett. 2009 Jan 5;583(1):185-9. doi: 10.1016/j.febslet.2008.11.043. Epub 2008 Dec 9. FEBS Lett. 2009. PMID: 19071117 Free article.

10

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.

Martinelli D, Häberle J, Rubio V, Giunta C, Hausser I, Carrozzo R, Gougeard N, Marco-Marín C, Goffredo BM, Meschini MC, Bevivino E, Boenzi S, Colafati GS, Brancati F, Baumgartner MR, Dionisi-Vici C. Martinelli D, et al. J Inherit Metab Dis. 2012 Sep;35(5):761-76. doi: 10.1007/s10545-011-9411-8. Epub 2011 Dec 15. J Inherit Metab Dis. 2012. PMID: 22170564

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