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Browsing by Author Ugarte, Magdalena

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openAccessLourdesRDesviat_A SensitiveAssay.pdf.jpg16-Sep-2014A sensitive assay system to test antisense oligonucleotides for splice suppression therapy in the mouse liverGallego-Villar, Lorena ; Viecelli, Hiu Man; Pérez, Belén ; Harding, Cary O; Ugarte, Magdalena ; Thöny, Beat; Desviat, Lourdes R. artículo
closedAccessaccesoRestringido.pdf.jpg2013Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiencyTondo, Mireia; Calpena, Eduardo ; Arriola, Gema; Sanz, Paloma ; Martorell, Loreto; Ormazabal, Aida; Castejón, Esperanza; Ugarte, Magdalena ; 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 ; Sánchez-Aragó, María ; Rejas, M. Teresa ; Merinero, Begoña ; García-Cazorla, Angels; Artuch, Rafael; Ugarte, Magdalena ; Rodríguez-Pombo, Pilar artículo
openAccessPérezB_DPAGTI-CDGFunctionalAnalysis.pdf.jpg29-Jun-2017DPAGT1-CDG: Functional analysis of diseasecausing pathogenic mutations and role of endoplasmic reticulum stressYuste-Checa, Patricia ; Vega, Ana I.; Martín-Higueras, Cristina; Medrano, Celia; Gámez, Alejandra ; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Pérez, Belén artículo
openAccessDesviatLR_DysregulatedmiRNAsAndTheirPathogenic.pdf.jpg18-Jul-2017Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemiaRivera-Barahona, Ana ; Fulgencio-Covián, Alejandro; Pérez-Cerdá, Celia; Ramos, Ricardo; Barry, Michael A; Ugarte, Magdalena ; Pérez, Belén ; Richard, Eva ; Desviat, Lourdes R. artículo
openAccessRichardE_EndoplasmicReticulumStress.pdf.jpg9-Mar-2016Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defectsMartínez-Pizarro, Ainhoa; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez, Belén ; Richard, Eva artículo
closedAccessaccesoRestringido.pdf.jpg2012Feasibility of nonsense mutation readthrough as a novel therapeutical approach in propionic acidemiaSánchez-Alcudia, Rocío ; Pérez, Belén ; Ugarte, Magdalena ; Desviat, Lourdes R. artículo
closedAccessaccesoRestringido.pdf.jpg2012Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemiaGallego-Villar, Lorena ; Pérez Cerdá, Cecilia; Pérez, Belén ; Abia, David ; Ugarte, Magdalena ; Richard, Eva ; Desviat, Lourdes R. artículo
openAccessDesviat RL Fuctional Caracterization.pdf.jpg8-Apr-2015Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and manRivera-Barahona, Ana ; Sánchez-Alcudia, Rocío ; Viecelli, Hiu Man; Rüefenacht, Veronique; Pérez, Belén ; Ugarte, Magdalena ; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes R. artículo
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 ; Peñalva, Miguel Ángel 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 ; Peñalva, Miguel Ángel artículo
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 ; Briso-Montiano, Alvaro; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena ; Pérez, Belén ; Desviat, Lourdes R. ; Richard, Eva artículo
openAccessPérezB_GenerationAndCharactization.pdf.jpg5-Apr-2018Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB typeRichard, Eva ; Brasil, Sandra ; Briso-Montiano, Alvaro; Alonso-Barroso, Esmeralda; Gallardo, M. Esther ; Merinero, Begoña ; Ugarte, Magdalena ; Desviat, Lourdes R. ; Pérez, Belén artículo
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 ; Leal, Fátima ; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. ; 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 ; Ugarte, Magdalena ; Pérez-Cerda, Celia; Merinero, Begoña ; Pérez, Belén artículo
openAccessPérezB_ImprovingTheDiagnosis.pdf.jpg2018Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsBrasil, Sandra ; Leal, Fátima ; Vega, Ana; Navarrete, Rosa; Ecay, María J.; Desviat, Lourdes R. ; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Pérez-Cerdá, Celia; Merinero, Begoña ; Pérez, Belén artículo
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 ; Ruiz-Sala, Pedro; Bornstein, Belén ; Gallardo, M. Esther ; Garesse, Rafael ; Ugarte, Magdalena ; Martín, Miguel A.artículo
openAccessPérezB_MethylmalonicAciduriaCBIB.pdf.jpg2015Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studiesBrasil, Sandra ; Richard, Eva ; Jorge-Finnigan, A.; Leal, Fátima ; Merinero, Begoña ; Banerjee, R.; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez, Belén artículo
closedAccessaccesoRestringido.pdf.jpg2012Minigenes to confirm exon skipping mutationsDesviat, Lourdes R. ; Pérez, Belén ; Ugarte, Magdalena artículo
closedAccessaccesoRestringido.pdf.jpg2013Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defectsRichard, Eva ; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez, Belén artículo
closedAccessaccesoRestringido.pdf.jpg2012Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic diseasePérez, Belén ; Rodríguez-Pombo, Pilar ; Ugarte, Magdalena ; Desviat, Lourdes R. artículo