| 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 |  | 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 |
| 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 |
| openAccess |  | 25-jun-2020 | The GATA3 X308_Splice breast cancer mutation is a hormone context-dependent oncogenic driver | Hruschka, Natascha; Kalisz, Mark; Subijana, María; Graña-Castro, Osvaldo; Caño-Ochoa, Francisco del CSIC ORCID; Paré Brunet, Laia; Sagrera, Ana; Reynies, Aurelien De; Kloesh, Bernhard; Chin, Suet-Feung; Burgués, Octavio; Andreu, David; Bermejo, Begoña; Cejalvo, Juan Miguel; Sutton, Joe; Caldas, Carlos; Ramón-Maiques, Santiago CSIC ORCID ; Carroll, Jason S.; Prat, Aleix; Real, Francisco X.; Martinelli, Paola | artículo |
