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openAccess20 JMC 9237  (2-Oxaadamant-1-yl ureas).pdf.jpg20202-Oxaadamant-1-yl Ureas as Soluble Epoxide Hydrolase Inhibitors: In Vivo Evaluation in a Murine Model of Acute PancreatitisCodony, Sandra; Pujol, Eugènia; Pizarro, J.; Feixas, Ferran; Valverde,E.; Loza, María Isabel; Brea, José Manuel; Saez, Elena; Oyarzabal, Julen; Pineda-Lucena, Antonio; Pérez, Belén CSIC ORCID; Pérez, Concepción CSIC ORCID; Rodríguez-Franco, María Isabel CSIC ORCID ; Leiva, Rosana; Osuna, Sílvia; Morissea, Christophe; Hammock, Bruce D.; Vázquez-Carrera, Manuel; Vázquez, Santiagoartículo
openAccess2022 Human Mutation 43-1430.pdf.jpgOct-2022A functional platform for the selection of pathogenic variants of PMM2 amenable to rescue via the use of pharmacological chaperonesSegovia-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 ORCIDartículo
openAccessLourdesRDesviat_A SensitiveAssay.pdf.jpg16-Sep-2014A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liverGallego-Villar, Lorena CSIC ORCID; Viecelli, Hiu Man; Pérez, Belén CSIC ORCID; Harding, Cary O; Ugarte, Magdalena CSIC ; Thöny, Beat; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessDesviatLR_AlteredRedoxHomeostasis.pdf.jpg20-Mar-2018Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and HomocystinuriaRichard, Eva CSIC ORCID; Gallego-Villar, Lorena CSIC ORCID; Rivera-Barahona, Ana CSIC; Oyarzábal, Alfonso CSIC ORCID; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessRodriguez_EurJMedChem_2021_editorial.pdf.jpg15-Oct-2021Benzofuranyl-2-imidazoles as imidazoline I2 receptor ligands for Alzheimer's diseaseRodriguez Arévalo, Sergio; Bagán, Andrea; Griñán Ferré, Christian; Vasilopoulou, Foteini; Pallàs, Mercè; Brocos Mosquera, Iria; Callado, Luis F.; Loza, M Isabel; Martínez, Antón L.; Brea, José; Pérez, Belén CSIC ORCID; Molins, Elies CSIC ORCID ; De Jonghe, Steven; Daelemans, Dirk; Radan, Milica; Djikic, Teodora; Nikolic, Katarina; Hernández Hernández, Elena; García-Fuster, M. Julia; García Sevilla, Jesús A.; Escolano, Carmenartículo
openAccessAbas_JMedChem_2020_postprint.pdf.jpg9-Apr-2020Bicyclic alfa-iminophosphonates as highly affinity imidazoline I2 receptor ligands for Alzheimer’s DiseaseAbás, Sònia; Rodríguez Arévalo, Sergio; Bagán, Andrea; Griñán Ferré, Christian; Vasilopoulou, Foteini; Brocos Mosquera, Iria; Muguruza, Carolina; Pérez, Belén CSIC ORCID; Molins, Elies CSIC ORCID ; Luque, F. Javier; Pérez Lozano, Pilar; Jonghe, Steven de; Daelemans, Dirk; Naesens, Lieve; Brea, José; Loza, María Isabel; Hernández Hernández, Elena; García-Sevilla, Jesús Andrés; García Fuster, M. Julia; Radan, Milica; Djikic, Teodora; Nikolic, Katarina; Pallàs, Mercè; Callado, Luis F.; Escolano, Carmenartículo
openAccessRichardE_CardiomyocytesDerived.pdf.jpg25-Jan-2021Cardiomyocytes derived from induced pluripotent stem cells as a disease model for propionic acidemiaAlonso-Barroso, Esmeralda; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCIDartículo
openAccessCardiomyocytes_Alonso_PV_Art2021.pdf.jpg25-Jan-2021Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic AcidemiaAlonso-Barroso, Esmeralda; Pérez, Belén CSIC ORCID; Ruiz Desviat, Lourdes; Richard, Eva CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2013cblE-type homocystinuria presenting with features of haemolytic-uremic syndrome in the newborn periodPalanca, Daniel; García-Cazorla, Angels; Ortiz, Jessica; Jou, Cristina; Cusí, Victoria; Suñol, Mariona; Toll, Teresa; Pérez, Belén CSIC ORCID; Ormazabal, Aida; Fowler, Brian; Artuch, Rafaelartículo
openAccessJMC2020.pdf.jpg24-Jul-2020Centrally Active Multitarget Anti-Alzheimer Agents Derived from the Antioxidant Lead CR-6Pérez-Areales, F. Javier; Garrido, María; Aso, Ester; Bartolini, Manuela; De Simone, Angela; Espargaró, Alba; Ginex, Tiziana CSIC ORCID ; Sabate, Raimon; Pérez, Belén CSIC ORCID; Andrisano, Vincenza; Puigoriol-Illamola, Dolors; Pallàs, Mercè; Luque, F. Javier; Loza, María Isabel; Brea, José; Ferrer, Isidro; Ciruela, Francisco; Messeguer Peypoch, Ángel CSIC ORCID; Muñoz-Torrero, Diegoartículo
openAccessVOLUMEN 4.pdf.jpg2020Challenges in Biomedicine and HealthDelgado, Mario; Ruíz del Árbol, María ; Durán, Raúl V. CSIC ORCID; Bustelo, Xosé R. CSIC ORCID ; Nieto, M. Ángela CSIC ORCID ; López-Serrano, Daniel CSIC ORCID; Gamarro, Francisco; Garcillán-Barcia, M. Pilar; Varela-Nieto, Isabel CSIC ORCID ; Pérez, Belén CSIC ORCID; Molina, Elena CSIC ORCID ; Moscoso, Javier CSIC ORCID ; Bachiller, Daniel CSIC ORCID; Serrano, María C. CSIC ORCID ; Marcos, Susana CSIC ORCID ; Herranz, Fernando CSIC ORCID CVN; D’Este, Pablocapítulo de libro
closedAccessaccesoRestringido.pdf.jpg2013Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiencyTondo, Mireia; Calpena, Eduardo CSIC ORCID; Arriola, Gema; Sanz, Paloma CSIC; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena CSIC ; Espinós, Carmen CSIC ORCID; Pérez, Belén CSIC ORCID; Pérez-Dueñas, Belén; Artuch, Rafaelartículo
closedAccessaccesoRestringido.pdf.jpg2021CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington¿s diseasePicó, Sara; Parras, Alberto; Santos-Galindo, María CSIC ORCID; Pose-Utrilla, Julia CSIC; Castro, Margarita; Fraga, Enrique; Hernández Hernández, Ivo; Elorza, Ainara; Anta, Héctor; Wang, Nan; Martí-Sánchez, Laura; Belloc, Eulàlia; García-Esparcia, Paula; Garrido, Juan J.; Ferrer, Isidro; Macías García, Daniel CSIC ORCID CVN; Mir, Pablo CSIC ORCID; Artuch, Rafael; Pérez, Belén CSIC ORCID; Hernández, Félix; Navarro, Pilar; López-Sendón, José Luis; Iglesias, Teresa CSIC ORCID ; Yang, Willian; Méndez, Raúl CSIC ORCID; Lucas, José Javier CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg29-Sep-2021CPEB alteration and aberrant transcriptome-polyadenylation lead to a treatable SLC19A3 deficiency in Huntington’s diseasePicó, Sara; Parras, Alberto; Santos-Galindo, María CSIC ORCID; Pose-Utrilla, Julia CSIC; Castro, Margarita; Fraga, Enrique; Hernández, Ivó H.; Elorza, Ainara; Anta, Héctor; Wang, Nan; Martí-Sánchez, Laura; Belloc, Eulàlia; García-Esparcia, Paula; Garrido, Juan J.; Ferrer, Isidro; Macías García, Daniel CSIC ORCID CVN; Mir, Pablo CSIC ORCID; Artuch, Rafael; Pérez, Belén CSIC ORCID; Hernández, Félix; Navarro, Pilar; López-Sendón, José Luis; Iglesias, Teresa CSIC ORCID ; Yang, X. William; Méndez, Raúl CSIC ORCID; Lucas, José Javier CSIC ORCIDartículo
openAccessPérezB_DataInSupportOfAFunctional.pdf.jpg28-Oct-2015Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS IIMatos, Liliana; GonÇalves, Vânia; Pinto, Eugénia; Laranjeira, Francisco; Prata, Maria João; Jordan, Peter; Desviat, Lourdes R. CSIC ORCID; Pérez, Belén CSIC ORCID; Alves, Sandraartículo
openAccessacs.jmedchem.1c02150.pdf.jpg24-Mar-2022Discovery and In Vivo Proof of Concept of a Highly Potent Dual Inhibitor of Soluble Epoxide Hydrolase and Acetylcholinesterase for the Treatment of Alzheimer's DiseaseCodony, Sandra; Pont, Caterina; Griñán-Ferré, Christian; Di Pede-Mattatelli, Ania CSIC; Calvó-Tusell, Carla; Feixas, Ferran; Osuna, Sílvia; Jarné-Ferrer, Júlia; Naldi, Marina; Bartolini, Manuela; Loza, María Isabel; Brea, José; Pérez, Belén CSIC ORCID; Bartra Cabré, Clara CSIC ORCID; Sanfeliu, Coral CSIC ORCID; Juárez-Jiménez, Jordi; Morisseau, Christophe; Hammock, Bruce D.; Pallàs, Mercè; Vázquez, Santiago; Muñoz-Torrero, Diegoartículo
openAccessPérezB_DPAGTI-CDGFunctionalAnalysis.pdf.jpg29-Jun-2017DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stressYuste-Checa, Patricia CSIC; Vega, Ana I.; Martín-Higueras, Cristina; Medrano, Celia; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2012DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotypeArroyo Carrera, Ignacio; Matthijs, Gert; Pérez, Belén CSIC ORCID; Pérez-Cerdá, Celiaartículo
openAccessDesviatLR_DysregulatedmiRNAsAndTheirPathogenic.pdf.jpg18-Jul-2017Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemiaRivera-Barahona, Ana CSIC; Fulgencio-Covián, Alejandro; Pérez-Cerdá, Celia; Ramos, Ricardo; Barry, Michael A; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Richard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessRichardE_EndoplasmicReticulumStress.pdf.jpg9-Mar-2016Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defectsMartínez-Pizarro, Ainhoa; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Richard, Eva CSIC ORCIDartículo