• Publications
  • Influence
The crystal structure of the complex of PII and acetylglutamate kinase reveals how PII controls the storage of nitrogen as arginine
TLDR
The crystal structure of the complex between NAGK and PII of Synechococcus elongatus is described and it is proved the physiological relevance of the observed interactions by site-directed mutagenesis and functional studies.
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
TLDR
Morphological and functional studies of fibroblast mitochondria show that P5CS deficiency is not associated with the mitochondrial alterations observed in Δ1-pyrroline-5-carboxylate reductase deficiency (another proline biosynthesis defect presenting cutis laxa and neurological alterations).
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
TLDR
Observation of the OTC structure appears a simple approach for discrimination between causative and trivial mSNCs, comparing favourably in this sample with three formalized structure-based and/or sequence-based in silico assessment methods, and supporting the causation of complete deficiency by the mutations p.Pro305Arg and p.Ser96Phe.
The PII-NAGK-PipX-NtcA Regulatory Axis of Cyanobacteria: A Tale of Changing Partners, Allosteric Effectors and Non-covalent Interactions
TLDR
Cyanobacterial studies yielded a first structure of a PII complex with an enzyme, deciphering how PII can cause enzyme activation, and how it promotes nitrogen stockpiling as arginine in cyanobacteria and plants.
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
TLDR
Results suggest that the pathway involving the enzyme encoded by ALDH18A1 (Δ1-pyrroline-5-carboxylate synthase, P5CS) is deficient, and it is shown that the enzymatic activity linked to one of the dominant mutations is deficient.
Understanding N‐Acetyl‐L‐Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations
TLDR
Enzyme activity and stability assays with 12 mutations introduced into pure recombinant Pseudomonas aeruginosa NAGS, together with in silico structural analysis, support the pathogenic role of most NAGSD‐associated mutations found.
...
1
2
3
4
...