Derechos | Preview | Fecha Public. | Título | Autor(es) | Tipo |
openAccess | | 20-mar-2018 | Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria | Richard, 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 ORCID | artículo |
openAccess | | 25-ene-2021 | Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia | Alonso-Barroso, Esmeralda; Pérez, Belén CSIC ORCID; Ruiz Desviat, Lourdes; Richard, Eva CSIC ORCID | artículo |
openAccess | | 25-ene-2021 | Cardiomyocytes derived from induced pluripotent stem cells as a disease model for propionic acidemia | Alonso-Barroso, Esmeralda; Pérez, Belén CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Richard, Eva CSIC ORCID | artículo |
openAccess | | 22-ene-2023 | Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy | Álvarez, Mar CSIC ORCID; Ruiz-Sala, Pedro; Pérez, Belén CSIC ORCID; Ruiz Desviat, Lourdes; Richard, Eva CSIC ORCID | artículo |
openAccess | | 18-jul-2017 | Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia | Rivera-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 ORCID | artículo |
openAccess | | 9-mar-2016 | Endoplasmic reticulum stress and autophagy in homocystinuria patients with remethylation defects | Martínez-Pizarro, Ainhoa; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID; Richard, Eva CSIC ORCID | artículo |
closedAccess | | 2012 | Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia | Gallego-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 ORCID | artículo |
openAccess | | 22-may-2019 | Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene | López-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 ORCID | artículo |
openAccess | | 16-jul-2019 | Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene | Arribas-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 ORCID | artículo |
openAccess | | 22-jul-2017 | Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene | Alonso-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 ORCID | artículo |
openAccess | | 5-abr-2018 | Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type | Richard, 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 ORCID | artículo |
openAccess | | nov-2018 | Identification of 34 novel mutations in propionic acidemia: Functional characterization of missense variants and phenotype associations | Rivera-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 ORCID | artículo |
| | 28-feb-2024 | Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient | Arribas-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 ORCID | artículo |
openAccess | | 2015 | Methylmalonic aciduria cblB type: Characterization of two novel mutations and mitochondrial dysfunction studies | Brasil, 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 ORCID | artículo |
closedAccess | | 2013 | Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects | Richard, Eva CSIC ORCID; Desviat, Lourdes R. CSIC ORCID; Ugarte, Magdalena CSIC ; Pérez, Belén CSIC ORCID | artículo |