Hasil Pencarian - Eva Richard

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  1. 1
    Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia

    Cardiomyocytes Derived from Induced Pluripotent Stem Cells as a Disease Model for Propionic Acidemia oleh Esmeralda Alonso-Barroso, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard

    Diterbitkan 2021-01-01
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  2. 2
    Cardiac Complications of Propionic and Other Inherited Organic Acidemias

    Cardiac Complications of Propionic and Other Inherited Organic Acidemias oleh Kyung Chan Park, Steve Krywawych, Eva Richard, Lourdes R. Desviat, Pawel Swietach

    Diterbitkan 2020-12-01
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  3. 3
    Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects.

    Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects. oleh Ainhoa Martínez-Pizarro, Lourdes R Desviat, Magdalena Ugarte, Belén Pérez, Eva Richard

    Diterbitkan 2016-01-01
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  4. 4
    Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy

    Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy oleh Mar Álvarez, Pedro Ruiz-Sala, Belén Pérez, Lourdes Ruiz Desviat, Eva Richard

    Diterbitkan 2023-01-01
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  5. 5
    Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

    Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene oleh Esmeralda Alonso-Barroso, Sandra Brasil, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard

    Diterbitkan 2017-08-01
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  6. 6
    Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

    Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia oleh Ana Rivera-Barahona, Alejandro Fulgencio-Covián, Celia Pérez-Cerdá, Ricardo Ramos, Michael A. Barry, Magdalena Ugarte, Belén Pérez, Eva Richard, Lourdes R Desviat

    Diterbitkan 2017-07-01
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  7. 7
    Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient

    Metabolic Rewiring and Altered Glial Differentiation in an iPSC-Derived Astrocyte Model Derived from a Nonketotic Hyperglycinemia Patient oleh Laura Arribas-Carreira, Margarita Castro, Fernando García, Rosa Navarrete, Irene Bravo-Alonso, Francisco Zafra, Magdalena Ugarte, Eva Richard, Belén Pérez, Pilar Rodríguez-Pombo

    Diterbitkan 2024-02-01
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  8. 8
    Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology

    Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology oleh Alejandro Fulgencio-Covián, Mar Álvarez, Barry A. Pepers, Arístides López-Márquez, Magdalena Ugarte, Belén Pérez, Willeke M.C. van Roon-Mom, Lourdes R. Desviat, Eva Richard

    Diterbitkan 2020-12-01
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  9. 9
    Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene

    Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene oleh Laura Arribas-Carreira, Irene Bravo-Alonso, Arístides López-Márquez, Esmeralda Alonso-Barroso, Álvaro Briso-Montiano, Ignacio Arroyo, Magdalena Ugarte, Belén Pérez, Celia Pérez-Cerdá, Pilar Rodríguez-Pombo, Eva Richard

    Diterbitkan 2019-08-01
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  10. 10
    Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

    Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene oleh Arístides López-Márquez, Esmeralda Alonso-Barroso, Gema Cerro-Tello, Irene Bravo-Alonso, Laura Arribas-Carreira, Álvaro Briso-Montiano, Rosa Navarrete, Celia Pérez-Cerdá, Magdalena Ugarte, Belén Pérez, Lourdes R. Desviat, Eva Richard

    Diterbitkan 2019-07-01
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  11. 11
    Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia

    Regulating PCCA gene expression by modulation of pseudoexon splicing patterns to rescue enzyme activity in propionic acidemia oleh Ulrika Simone Spangsberg Petersen, Maja Dembic, Ainhoa Martínez-Pizarro, Eva Richard, Lise Lolle Holm, Jesper Foged Havelund, Thomas Koed Doktor, Martin Røssel Larsen, Nils J. Færgeman, Lourdes Ruiz Desviat, Brage Storstein Andresen

    Diterbitkan 2024-03-01
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  12. 12
    Isolated and Combined Remethylation Disorders

    Isolated and Combined Remethylation Disorders oleh Eva Richard PhD, Sandra Brasil PhD, Fátima Leal, Rosa Navarrete, Ana Vega PhD, María Jesús Ecay, Lourdes R. Desviat PhD, Celia Pérez-Cerda PhD, Magdalena Ugarte PhD, Begoña Merinero PhD, Belén Pérez PhD

    Diterbitkan 2017-01-01
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  13. 13
    O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

    O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis oleh Leandro R. Soria, Georgios Makris, Alfonso M. D’Alessio, Angela De Angelis, Iolanda Boffa, Veronica M. Pravata, Véronique Rüfenacht, Sergio Attanasio, Edoardo Nusco, Paola Arena, Andrew T. Ferenbach, Debora Paris, Paola Cuomo, Andrea Motta, Matthew Nitzahn, Gerald S. Lipshutz, Ainhoa Martínez-Pizarro, Eva Richard, Lourdes R. Desviat, Johannes Häberle, Daan M. F. van Aalten, Nicola Brunetti-Pierri

    Diterbitkan 2022-09-01
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