Rubio V - Search Results

1

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M. Panza E, et al. Among authors: rubio v. Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21. Brain. 2016. PMID: 26297558 No abstract available.

2

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. Among authors: rubio v. J Mol Biol. 2003 Nov 28;334(3):459-76. doi: 10.1016/j.jmb.2003.09.038. J Mol Biol. 2003. PMID: 14623187

3

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. Among authors: rubio v. 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

4

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. Among authors: rubio v. 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

5

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. Among authors: rubio v. J Mol Biol. 2005 Sep 16;352(2):438-54. doi: 10.1016/j.jmb.2005.07.045. J Mol Biol. 2005. PMID: 16095620

6

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. Among authors: rubio v. 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

7

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. Among authors: rubio v. 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

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. Among authors: rubio v. 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. Among authors: rubio v. 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 N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.

Sancho-Vaello E, Marco-Marín C, Gougeard N, Fernández-Murga L, Rüfenacht V, Mustedanagic M, Rubio V, Häberle J. Sancho-Vaello E, et al. Among authors: rubio v. Hum Mutat. 2016 Jul;37(7):679-94. doi: 10.1002/humu.22995. Epub 2016 May 6. Hum Mutat. 2016. PMID: 27037498

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