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Browsing by Author Ugarte, Magdalena

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RightsPreviewIssue DateTitleAuthor(s)Type
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 ORCID; Thöny, Beat; Desviat, Lourdes R. CSIC ORCIDartículo
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 ORCID; Espinos, Carmen; Pérez, Belén; Pérez-Dueñas, Belén; Artuch, Rafaelartículo
openAccessRejasMT_DatasetReportingBCKDKInterferenceInaBCAA.pdf.jpg15-Mar-2016Dataset reporting BCKDK interference in a BCAA-catabolism restricted environmentBravo-Alonso, I; Oyarzábal, Alfonso CSIC ORCID; Sánchez-Aragó, María CSIC; Rejas, M. Teresa CSIC ; Merinero, Begoña CSIC; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCIDartículo
openAccessPérezB_DPAGTI-CDGFunctionalAnalysis.pdf.jpg29-Jun-2017DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stressYuste-Checa, Patricia CSIC ORCID; Vega, Ana I.; Martín-Higueras, Cristina; Medrano, Celia; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Pérez-Cerdá, Celia; Pérez, Belénartículo
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 ORCID; Pérez, Belén; 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 ORCID; Pérez, Belén; Richard, Eva CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2012Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemiaSánchez-Alcudia, Rocío CSIC; Pérez, Belén; Ugarte, Magdalena CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
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 ORCID; Richard, Eva CSIC ORCID; 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 ORCID; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes R. CSIC ORCIDartículo
openAccessJ. Biol. Chem.-2004-Rodríguez-4578-87.pdf.jpg6-Feb-2004Fungal metabolic model for 3-methylcrotonyl-CoA carboxylase deficiencyRodríguez, José M.; Ruiz-Sala, Pedro; Ugarte, Magdalena CSIC ORCID; Peñalva, Miguel Ángel CSIC ORCID artículo
openAccessJ. Biol. Chem.-2004-Rodríguez J. M.-32385-92.pdf.jpg30-Jul-2004Fungal metabolic model for type I 3-methylglutaconic aciduriaRodríguez, José M.; Ruiz-Sala, Pedro; Ugarte, Magdalena CSIC ORCID; Peñalva, Miguel Ángel CSIC ORCID artículo
openAccessDesviatLR_GenerationAndCharacterization.pdf.jpg22-May-2019Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB geneLópez-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Cerro-Tello, Gema; Bravo-Alonso, Irene; Arribas-Carreira, Laura; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ORCID; Pérez, Belén; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCIDartículo
openAccessPérezB_GenerationandCharacterizationofaHuman.pdf.jpg16-Jul-2019Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC geneArribas-Carreira, Laura; Bravo-Alonso, Irene; López-Márquez, Arístides CSIC ORCID; Alonso-Barroso, Esmeralda; Briso-Montiano, Alvaro; Arroyo, Ignacio; Ugarte, Magdalena CSIC ORCID; Pérez, Belén; Pérez-Cerdá, Celia; Rodríguez-Pombo, Pilar CSIC ORCID; Richard, Eva CSIC ORCIDartículo
openAccessDesviatLr_GenerationAndCharacterization.pdf.jpg22-Jul-2017Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA geneAlonso-Barroso, Esmeralda; Brasil, Sandra ORCID; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ORCID; Pérez, Belén; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCIDartículo
openAccessPérezB_GenerationAndCharactization.pdf.jpg5-Apr-2018Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB typeRichard, Eva CSIC ORCID; Brasil, Sandra ORCID; Briso-Montiano, Alvaro; Alonso-Barroso, Esmeralda; Gallardo, M. Esther CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Pérez, Belénartículo
openAccessgenes_lactic_acidosis_personalized_treatment.pdf.jpg1-Nov-2019Genes and variants underlying human congenital lactic acidosis—from genetics to personalized treatmentBravo-Alonso, Irene; Navarrete, Rosa; Vega, Ana Isabel; Ruíz-Sala, Pedro; García Silva, María Teresa; Martín-Hernández, Elena; Quijada-Fraile, Pilar; Belanger-Quintana, Amaya; Stanescu, Sinziana; Bueno, María; Vitoria, Isidro; Toledo, Laura; Couce, María Luz; García-Jiménez, Inmaculada; Ramos-Ruiz, Ricardo; Martín, Miguel Ángel; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belén; Rodríguez-Pombo, Pilar CSIC ORCIDartículo
openAccessimproving_deseases_2018.pdf.jpg24-Jul-2018Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsBrasil, Sandra ORCID; Leal, Fátima; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. CSIC ORCID; Riera, Casandra; Padilla, Natàlia; de la Cruz, Xavier; Couce, Mari L.; Martin-Hernández, Elena; Morais, Ana; Pedrón, Consuelo; Peña-Quintana, Luis; Rigoldi, Miriam; Specola, Norma; de Almeida, Isabel T.; Vives, Inmaculada; Yahyaoui, Raquel; Rodríguez-Pombo, Pilar CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Pérez-Cerdá, Celia; Merinero, Begoña CSIC; Pérez, Belénartículo
closedAccessaccesoRestringido.pdf.jpg2010Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic archRivera, Henry; Merinero, Begoña CSIC; Ruiz-Sala, Pedro; Bornstein, Belén CSIC; Gallardo, M. Esther CSIC ORCID; Garesse, Rafael CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Martín, Miguel A.artículo
openAccessPérezB_MethylmalonicAciduriaCBIB.pdf.jpg2015Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studiesBrasil, Sandra ORCID; Richard, Eva CSIC ORCID; Jorge-Finnigan, A.; Leal, Fátima; Merinero, Begoña CSIC; Banerjee, R.; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ORCID; Pérez, Belénartículo
closedAccessaccesoRestringido.pdf.jpg2012Minigenes to confirm exon skipping mutationsDesviat, Lourdes R. CSIC ORCID; Pérez, Belén; Ugarte, Magdalena CSIC ORCIDartículo