author-photo

Clara Marco-Marín

Spanish National Research Council

25

Papers

497

Citations

Citation Trend

Filter By

Papers (21) Sort By

Journal Conference Others

Functional and structural characterization of PII-like protein CutA does not support involvement in heavy metal tolerance and hints at a small-molecule carrying/signaling role.

2020 FEBS Journal
Show All
- Source
- Cite
- Save
Citations (3)
Δ 1 ‐Pyrroline‐5‐carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle‐related disorder

2020 Journal of Inherited Metabolic Disease
Show All
- Source
- Cite
- Save
Citations (4)
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

2019 Annals of clinical and translational neurology
Show All
- Source
- Cite
- Save
Citations (7)
The PII-NAGK-PipX-NtcA Regulatory Axis of Cyanobacteria: A Tale of Changing Partners, Allosteric Effectors and Non-covalent Interactions

2018 Frontiers in Molecular Biosciences
Show All
- Source
- Cite
- Save
Citations (29)
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation

2017 Neurogenetics
Show All
- Source
- Cite
- Save
Citations (17)
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

2016 Brain
Show All
- Source
- Cite
- Save
Citations (44)
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations

2016 Human Mutation
Show All
- Source
- Cite
- Save
Citations (21)
Deciphering the mechanism by which 1-pyrrolin-5-carboxylate synthetase defects associate with dominant and recessive human pathologies

2015
Show All
- Source
- Cite
- Save
Citations (0)
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

2012 Journal of Inherited Metabolic Disease
Show All
- Source
- Cite
- Save
Citations (40)
Congenital hypomyelinating neuropathy due to a novel MPZ mutation

2011 Journal of The Peripheral Nervous System
Show All
- Source
- Cite
- Save
Citations (13)