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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; Pérez, Concepción; Rodríguez-Franco, María Isabel CSIC ORCID ; Leiva, Rosana; Osuna, Sílvia; Morissea, Christophe; Hammock, Bruce D.; Vázquez-Carrera, Manuel; Vázquez, Santiagoartículo
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; 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; Gallego-Villar, Lorena CSIC ORCID; Rivera-Barahona, Ana CSIC; Oyarzábal, Alfonso CSIC ORCID; Pérez, Belén; Rodríguez-Pombo, Pilar CSIC; Desviat, Lourdes R. CSIC ORCIDartículo
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; 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 A.; García Fuster, M. Julia; Radan, Milica; Djikic, Teodora; Nikolic, Katarina; Pallàs, Mercè; Callado, Luis F.; Escolano, Carmenartículo
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; Ruiz Desviat, Lourdes; Richard, Eva CSICartículo
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; 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 ORCID ; Sabate, Raimon; Pérez, Belén; 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; Moros, María; Durán, Raúl V.; Bustelo, Xosé R. CSIC ORCID ; Nieto, M. Ángela CSIC ORCID ; López, Daniel CSIC ORCID ; Gamarro, Francisco; Garcillán-Barcia, M. Pilar; Varela-Nieto, Isabel CSIC ORCID ; Pérez, Belén; Molina, Elena CSIC ORCID ; Moscoso, Javier CSIC ORCID ; Bachiller, Daniel; Serrano, María C. CSIC ORCID; Marcos, Susana CSIC ORCID; Herranz, Fernando CSIC ORCID; 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; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena CSIC; Espinos, Carmen; Pérez, Belén; Pérez-Dueñas, Belén; Artuch, Rafaelartículo
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; Alves, Sandraartículo
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, Belénartículo
closedAccessaccesoRestringido.pdf.jpg2012DPAGT1-CDG: Report of a patient with fetal hypokinesia phenotypeArroyo Carrera, Ignacio; Matthijs, Gert; Pérez, Belén; 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; Richard, Eva CSIC; 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; Richard, Eva CSICartículo
openAccessPérezB_ExpandingTheGenetic.pdf.jpg2019Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiencyknerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begoña CSIC; Oyarzabal, Alfonso; Pérez, Belén; Jones, Simon A.; Perveen, Rahat; Preece, Mary A.; Rogers, Yvonne ; Treacy, Eileen P.; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W.; Robinson, Ian; Rodríguez-Pombo, Pilar CSIC; Olpin, Simon E.; Banka, Siddharthartículo
closedAccessaccesoRestringido.pdf.jpg2012Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemiaSánchez-Alcudia, Rocío CSIC; Pérez, Belén; Ugarte, Magdalena CSIC; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessPérezB_FunctionalAnalysisOfSplicing.pdf.jpg2015Functional 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; Alves, Sandraartículo
closedAccessaccesoRestringido.pdf.jpg2012Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemiaGallego-Villar, Lorena CSIC ORCID; Pérez-Cerdá, Celia; Pérez, Belén; Abia, David CSIC ORCID ; Ugarte, Magdalena CSIC; Richard, Eva CSIC; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessDesviat RL Fuctional Caracterization.pdf.jpg8-Apr-2015Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and manRivera-Barahona, Ana CSIC; Sánchez-Alcudia, Rocío CSIC; Viecelli, Hiu Man; Rüefenacht, Veronique; Pérez, Belén; Ugarte, Magdalena CSIC; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes R. CSIC ORCIDartículo
openAccess2021 Sci Rep 11-15062.pdf.jpg23-Jul-2021Gene expression analysis method integration and co-expression module detection applied to rare glucide metabolism disorders using ExpHunterSuiteJabato, Fernando M.; Córdoba-Caballero, José; Rojano, Elena; Romá-Mateo, Carlos CSIC ORCID CVN; Sanz, Pascual CSIC ORCID ; Pérez, Belén; Gallego, Diana; Seoane, Pedro; Ranea, Juan A. G.; Perkins, James R.artículo