Mostrando resultados 1 a 20 de 27
Siguiente >
Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | oct-2022 | A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperones | Segovia-Falquina, Cristina; Vilas, Alicia; Leal, Fátima CSIC; Caño-Ochoa, Francisco del CSIC ORCID; Kirk, Edwin P.; Ugarte, Magdalena CSIC ; Ramón-Maiques, Santiago CSIC ORCID ; Gámez, Alejandra CSIC ORCID; Pérez, Belén CSIC ORCID | artículo |
openAccess | | 9-ene-2023 | A Tailored Strategy to Crosslink the Aspartate Transcarbamoylase Domain of the Multienzymatic Protein CAD | Caño-Ochoa, Francisco del CSIC ORCID; Rubio del Campo, Antonio CSIC ORCID; Ramón-Maiques, Santiago CSIC ORCID | artículo |
closedAccess | | 15-jun-2021 | Afatinib Exerts Immunomodulatory Effects by Targeting the Pyrimidine Biosynthesis Enzyme CAD | Tu, Hsin Fang; Ko, Chun Jung; Lee, Ching Tai; Lee, Cheng Fan; Lan, Shao Wei; Lin, Hsin Hsien; Lin, Hsin Ying; Ku, Chia-Chi; Lee, Der Yen; Chen, I-Chun; Chuang, Ya-Hui; Caño-Ochoa, Francisco del CSIC ORCID; Ramón-Maiques, Santiago CSIC ORCID ; Ho, Chao-Chi; Lee, Ming-Shyue; Chang, Geen-Dong | artículo |
openAccess | | 1-ago-2023 | Beyond genetics: Deciphering the impact of missense variants in CAD deficiency | Caño-Ochoa, Francisco del CSIC ORCID; Ng, Bobby G.; Rubio-Del-Campo, Antonio; Mahajan, Sonal; Wilson, Matthew P.; Vilar, Marçal CSIC ORCID ; Rymen, Daisy; Sánchez-Pintos, Paula; Kenny, Janna; Martos, Myriam; Ley Campos, Teresa; Wortmann, Saskia B.; Freeze, Hudson H.; Ramón-Maiques, Santiago CSIC ORCID | artículo |
openAccess | | 2019 | CAD, A Multienzymatic Protein at the Head of de Novo Pyrimidine Biosynthesis | Caño-Ochoa, Francisco del CSIC ORCID; Moreno-Morcillo, María CSIC ORCID; Ramón-Maiques, Santiago CSIC ORCID | artículo |
openAccess | | oct-2020 | Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy | Caño-Ochoa, Francisco del CSIC ORCID; Ng, Bobby G.; Abedalthagafi, Malak; Almannai, Mohammed; Cohn, Ronald D.; Costain, Gregory; Elpeleg, Orly; Houlden, Henry; Karimiani, Ehsan Ghayoor; Liu, Pengfei; Manzini, M Chiara; Maroofian, Reza; Muriello, Michael; Al-Otaibi, Ali; Patel, Hema; Shimon, Edvardson; Sutton, V. Reid; Toosi, Mehran Beiraghi; Wolfe, Lynne A.; Rosenfeld, Jill A.; Freeze, Hudson H.; Ramón-Maiques, Santiago CSIC ORCID | artículo |
openAccess | | oct-2021 | Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease | Caño-Ochoa, Francisco del CSIC ORCID; Ramón-Maiques, Santiago CSIC ORCID | revisión |
openAccess | | jul-2022 | Functional and structural deficiencies of Gemin5 variants associated with neurological disorders | Francisco-Velilla, Rosario CSIC ORCID; Embarc-Buh, Azman; Caño-Ochoa, Francisco del CSIC ORCID; Abellan, Salvador; Vilar, Marçal CSIC ORCID ; Alvarez, Sara; Fernandez-Jaen, Alberto; Kour, Sukhleen; Rajan, Deepa S.; Pandey, Udai Bhan; Ramón-Maiques, Santiago CSIC ORCID ; Martínez-Salas, Encarnación CSIC ORCID | artículo |
openAccess | | 1-dic-2021 | Insight on molecular pathogenesis and pharmacochaperoning potential in phosphomannomutase 2 deficiency, provided by novel human phosphomannomutase 2 structures | Briso-Montiano, Álvaro CSIC ORCID; Caño-Ochoa, Francisco del CSIC ORCID; Vilas, Alicia; Velázquez-Campoy, Adrián; Rubio, Vicente CSIC ORCID ; Pérez, Belén CSIC ORCID; Ramón-Maiques, Santiago CSIC ORCID | artículo |
openAccess | | 11-feb-2021 | Mechanisms of feedback inhibition and sequential firing of active sites in plant aspartate transcarbamoylase | Bellin, Leo; Caño-Ochoa, Francisco del CSIC ORCID; Velázquez-Campoy, Adrián; Möhlmann, Torsten; Ramón-Maiques, Santiago CSIC ORCID | artículo |
openAccess | | 1999 | N-acetyi-L-glutamate kinase from Escherichia coli: Cloning of the gene, purification and crystallization of the recombinant enzyme and preliminary X-ray analysis of the free and ligand-bound forms | Gil-Ortiz, Fernando CSIC ORCID; Ramón-Maiques, Santiago CSIC ORCID ; Marina, Alberto CSIC ORCID ; Fita, Ignacio CSIC ORCID ; Rubio, Vicente CSIC ORCID | artículo |
closedAccess | | 2023 | New findings with the IBV decoy for cell entry inhibition of SARS-CoV-2, and unique structural data for soluble dimeric ACE2 bound to the viral S trimer | Forcada-Nadal, Alicia CSIC ORCID; López-Redondo, Marisa CSIC; Franco, María Luisa CSIC; Francés-Gómez, Clara CSIC ORCID; Ruiz-Partida, Rafael; Marco-Marín, Clara CSIC ORCID; Zamora-Caballero, Sara; Rubio-Del-Campo, Antonio; Hernández-Sierra, María del Pilar; Gougeard, Nadine CSIC ORCID; Espinosa, Carolina; Adhav, Anmol CSIC ORCID; Villamayor-Belinchón, Laura; Gozalbo-Rovira, Roberto CSIC ORCID; Sanz-Frasquet, Carla CSIC; Bravo, Jerónimo CSIC ORCID ; Ramón-Maiques, Santiago CSIC ORCID ; Vilar, Marçal CSIC ORCID ; Rubio, Vicente CSIC ORCID ; Geller, Ron CSIC ORCID ; Marina, Alberto CSIC ORCID ; Llácer, José Luis CSIC ORCID | comunicación de congreso |
openAccess | | 2020 | Origins, (Co)Evolution and Diversity of Life | Bovolenta, Paola CSIC ORCID; Manzanares, Miguel CSIC ORCID; Buceta, Javier CSIC ORCID ; Briones, Carlos CSIC ORCID; Jiménez-Serra, Izaskun CSIC ORCID; Valpuesta, José M. CSIC ORCID ; Ramón-Maiques, Santiago CSIC ORCID ; Zardoya, Rafael CSIC ORCID ; Riesgo Gil, Ana ; Casares, Fernando CSIC ORCID; Maeso, Ignacio CSIC ORCID; Valverde, Sergi CSIC ORCID ; Ares, Saúl CSIC ORCID ; Lalueza-Fox, Carles CSIC ORCID ; Torre, Ignacio de la ; Elena, Santiago F. CSIC ORCID ; Comas, Iñaki CSIC ORCID ; Rivas, Germán CSIC ORCID CVN ; García-Ruiz, Eva CSIC ORCID | capítulo de libro |
openAccess | | mar-2023 | Pathogenic variants of the coenzyme A biosynthesis-associated enzyme phosphopantothenoylcysteine decarboxylase cause autosomal-recessive dilated cardiomyopathy | Bravo-Alonso, Irene; Morin, Matias; Arribas-Carreira, Laura; Álvarez, Mar CSIC ORCID; Padrón-Giner, Consuelo; Soletto, Lucia; Santolaria, Carlos; Ramón-Maiques, Santiago CSIC ORCID ; Ugarte, Magdalena CSIC ; Rodríguez-Pombo, Pilar CSIC ORCID; Ariño, Joaquín; Moreno-Pelayo, Miguel Ángel; Pérez, Belén CSIC ORCID | artículo |
openAccess | | 11-nov-2022 | Phosphorylation of T897 in the dimerization domain of Gemin5 modulates protein interactions and translation regulation | Francisco-Velilla, Rosario CSIC ORCID; Embarc-Buh, Azman; Abellan, Salvador; Caño-Ochoa, Francisco del CSIC ORCID; Ramón-Maiques, Santiago CSIC ORCID ; Martínez-Salas, Encarnación CSIC ORCID | artículo |
closedAccess | | 24-feb-2006 | Structural bases of feed-back control of arginine biosynthesis, revealed by the structures of two hexameric N-acetylglutamate kinases, from Thermotoga maritima and Pseudomonas aeruginosa | Ramón-Maiques, Santiago CSIC ORCID ; Fernández-Murga, María Leonor CSIC; Gil-Ortiz, Fernando CSIC ORCID; Vagin, Alexei; Fita, Ignacio CSIC ORCID ; Rubio, Vicente CSIC ORCID | artículo |
openAccess | | 18-nov-2019 | Structural basis for the dimerization of Gemin5 and its role in protein recruitment and translation control | Moreno-Morcillo, María CSIC ORCID; Francisco-Velilla, Rosario CSIC ORCID; Embarc-Buh, Azman; Fernández-Chamorro, Javier; Ramón-Maiques, Santiago CSIC ORCID ; Martínez-Salas, Encarnación CSIC ORCID | artículo |
openAccess | | 6-jun-2017 | Structural Insight into the Core of CAD, the Multifunctional Protein Leading De Novo Pyrimidine Biosynthesis | Moreno-Morcillo, María CSIC ORCID; Grande-García, Araceli; Ruiz-Ramos, Alba; Caño-Ochoa, Francisco del CSIC ORCID; Boskovic, Jasminka; Ramón-Maiques, Santiago CSIC ORCID | artículo |
closedAccess | | 2016 | Structure and Functional Characterization of Human Aspartate Transcarbamoylase, the Target of the Anti-tumoral Drug PALA | Ruiz-Ramos, A.; Velázquez-Campoy, Adrián; Grande-García, Araceli; Moreno-Morcillo, M.; Ramón-Maiques, Santiago CSIC ORCID | artículo |
closedAccess | | 2002 | Structure of acetylglutamate kinase, a key enzyme for arginine biosynthesis and a prototype for the amino acid kinase enzyme family, during catalysis | Ramón-Maiques, Santiago CSIC ORCID ; Marina, Alberto CSIC ORCID ; Gil-Ortiz, Fernando CSIC ORCID; Fita, Ignacio CSIC ORCID ; Rubio, Vicente CSIC ORCID | artículo |