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Lista de obras de Clara Marco-Marín

A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.

artículo científico publicado en 2017

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

artículo científico publicado en 2007

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

scientific journal article

Congenital hypomyelinating neuropathy due to a novel MPZ mutation

scientific article published on 01 December 2011

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

article by J. A. Arranz et al published 1 March 2007 in Journal of Inherited Metabolic Disease

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

artículo científico publicado en 2004

Nitrogen storage regulation by PII protein: lessons learned from taxonomic outliers

scientific article published on 13 January 2020

P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9

scientific article published on 19 July 2019

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.

artículo científico publicado en 2003

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

artículo científico publicado en 2005

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

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

artículo científico publicado en 2012

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