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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
openAccessCardiomyocytes_Alonso_PV_Art2021.pdf.jpg25-ene-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
openAccessRichardE_CardiomyocytesDerived.pdf.jpg25-ene-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
openAccessijms-24-02182-v2.pdf.jpg22-ene-2023Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with CardiomyopathyÁlvarez, Mar CSIC ORCID; Ruiz-Sala, Pedro; Pérez, Belén CSIC ORCID; Ruiz Desviat, Lourdes; Richard, Eva CSIC ORCIDartículo
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
closedAccessaccesoRestringido.pdf.jpg2012Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemiaGallego-Villar, Lorena CSIC ORCID; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Abia, David CSIC ORCID ; Ugarte, Magdalena CSIC ; Richard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
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, Álvaro CSIC ORCID; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; 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, Álvaro CSIC ORCID; Arroyo, Ignacio; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; 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 CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Navarrete, Rosa; Pérez-Cerdá, Celia; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCIDartículo
openAccessPérezB_GenerationAndCharactization.pdf.jpg5-abr-2018Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB typeRichard, Eva CSIC ORCID; Brasil, Sandra CSIC ORCID; Briso-Montiano, Álvaro CSIC ORCID; Alonso-Barroso, Esmeralda; Gallardo, M. Esther CSIC ORCID; Merinero, Begoña CSIC; Ugarte, Magdalena CSIC ; Desviat, Lourdes R. CSIC ORCID; Pérez, Belén CSIC ORCIDartículo
openAccessIdentification_34_Rivera_postprint.pdf.jpgnov-2018Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associationsRivera-Barahona, Ana CSIC; Navarrete, Rosa; García-Rodríguez, Raquel; Richard, Eva CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez-Cerdá, Celia; Pérez, Belén CSIC ORCID; Gámez, Alejandra CSIC ORCID; Desviat, Lourdes R. CSIC ORCIDartículo
ijms-25-02814.pdf.jpg28-feb-2024Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia PatientArribas-Carreira, Laura; Castro, Margarita; García, Fernando; Navarrete, Rosa; Bravo-Alonso, Irene; Zafra, Francisco CSIC ORCID; Ugarte, Magdalena CSIC; Richard, Eva CSIC ORCID; Pérez, Belén CSIC ORCID; Rodríguez-Pombo, Pilar CSIC ORCIDartículo
openAccessPérezB_MethylmalonicAciduriaCBIB.pdf.jpg2015Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studiesBrasil, Sandra CSIC ORCID; Richard, Eva CSIC ORCID; Jorge-Finnigan, A.; Leal, Fátima CSIC; Merinero, Begoña CSIC; Banerjee, R.; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCIDartículo
closedAccessaccesoRestringido.pdf.jpg2013Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defectsRichard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCIDartículo