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Browsing by Author Marco-Marín, Clara

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Showing results 1 to 12 of 12
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openAccess2017 Neurogenetics 18-245-Manuscrito.pdf.jpgDec-2017A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutationSancho, Paula; Sánchez-Monteagudo, Ana; Collado, Antonio; Marco-Marín, Clara CSIC ORCID; Domínguez-Gonzalez, Cristina; Camacho, Ana CSIC; Knecht, Erwin; Espinós, Carmen CSIC ORCID; Lupo, Vincenzo CSIC ORCIDartículo
openAccessG5K_JMB2007.pdf.jpg13-Apr-2007A Novel Two-domain Architecture Within the Amino Acid Kinase Enzyme Family Revealed by the Crystal Structure of Escherichia coli Glutamate 5-kinaseMarco-Marín, Clara CSIC ORCID; Gil-Ortiz, Fernando CSIC ORCID; Pérez-Arellano, Isabel CSIC; Cervera, Javier; Fita, Ignacio CSIC ORCID ; Rubio, Vicente CSIC ORCID artículo
openAccess2016 Brain 139-e3 Author vers.pdf.jpgJan-2016ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanismPanza, Emanuele; Escamilla-Honrubia, Juan Manuel; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine CSIC; De Michele, Giuseppe; Brescia Morra, Vincenzo; Liguori, Rocco; Salviati, Leonardo; Donati, Maria Alice; Cusano, Roberto; Pippucci, Tommaso; Ravazzolo, Roberto; Nemeth, Andrea H; Smithson, Sarah; Davies, Sally; Hurst, Jane A; Bordo, Domenico; Rubio, Vicente CSIC ORCID ; Seri, Marcoartículo
openAccess2011 J Peripher Nerv Syst 16-347 vers aut.pdf.jpgDec-2011Congenital hypomyelinating neuropathy due to a novel MPZ mutationSevilla, Teresa; Lupo, Vincenzo CSIC ORCID; Sivera, Rafael; Marco-Marín, Clara CSIC ORCID; Martínez-Rubio, Dolores CSIC; Rivas, Eloy; Hernández, Arturo; Palau Martínez, Francesc CSIC ORCID; Espinós, Carmen CSIC ORCIDartículo
openAccesssebbm2015_Juanma.pdf.jpg7-Sep-2015Deciphering the mechanism by which 1-pyrrolin-5-carboxylate synthetase defects associate with dominant and recessive human pathologiesEscamilla Honrubia, Juan Manuel CSIC ORCID; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine; Rubio, Vicente CSIC ORCID póster de congreso
openAccess2021 FEBS J 288-1142.pdf.jpgFeb-2021Functional and structural characterization of PII-like protein CutA does not support involvement in heavy metal tolerance and hints at a small-molecule carrying/signaling roleSelim, Khaled A.; Tremiño, Lorena; Marco-Marín, Clara CSIC ORCID; Alva, Vikram; Espinosa, Javier; Contreras, Asunción; Hartmann, Marcus D.; Forchhammer, Karl; Rubio, Vicente CSIC ORCID artículo
openAccessMarco Marin Tesis.pdf.jpg19-Feb-2007Máquinas moleculares que sintetizan anhidridos fosfóricosMarco-Marín, Clara CSIC ORCIDtesis doctoral
openAccess2020 FEBS J 287-439 vers aut.pdf.jpgFeb-2020Nitrogen storage regulation by PII protein: lessons learned from taxonomic outliersRubio, Vicente CSIC ORCID ; Marco-Marín, Clara CSIC ORCID; Llácer, José Luis CSIC ORCID comentario
openAccess2007 PNAS 104-17644_vers aut.pdf.jpg6-Nov-2007The crystal structure of the complex of PII and acetylglutamate kinase reveals how PII controls the storage of nitrogen as arginineLlácer, José Luis CSIC ORCID ; Contreras, Asunción; Forchhammer, Karl; Marco-Marín, Clara CSIC ORCID; Gil-Ortiz, Fernando CSIC ORCID; Maldonado, R.; Fita, Ignacio CSIC ORCID ; Rubio, Vicente CSIC ORCID artículo
openAccess2018 Front Mol Biosci 5-00091.pdf.jpg13-Nov-2018The PII-NAGK-PipX-NtcA Regulatory Axis of Cyanobacteria: A Tale of Changing Partners, Allosteric Effectors and Non-covalent InteractionsForcada-Nadal, Alicia CSIC ORCID; Llácer, José Luis CSIC ORCID ; Contreras, Asunción; Marco-Marín, Clara CSIC ORCID; Rubio, Vicente CSIC ORCID artículo
openAccess2016 Hum Mutat 37-679 Auth Vers.pdf.jpgJul-2016Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural ConsiderationsSancho-Vaello, Enea CSIC ORCID; Marco-Marín, Clara CSIC ORCID; Gougeard, Nadine CSIC; Fernandez-Murga, Leonor; Rufenacht, Veronique; Mustedanagic, Merima; Rubio, Vicente CSIC ORCID ; Rubio, Vicente CSIC ORCID ; Haberle, Johannesartículo
openAccess2020 J Inherit Metab Dis 43-0657 vers aut.pdf.jpgJul-2020Δ 1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorderMarco-Marín, Clara CSIC ORCID; Escamilla-Honrubia, Juan M.; Llácer, José Luis CSIC ORCID ; Seri, Marco; Panza, Emanuele; Rubio, Vicente CSIC ORCID revisión