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

por Alonso-Barroso, Esmeralda, Pérez, Belén, Desviat, Lourdes Ruiz, Richard, Eva
Publicado 2021

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects

por Martínez-Pizarro, Ainhoa, Desviat, Lourdes R., Ugarte, Magdalena, Pérez, Belén, Richard, Eva
Publicado 2016

Cardiac Complications of Propionic and Other Inherited Organic Acidemias

por Park, Kyung Chan, Krywawych, Steve, Richard, Eva, Desviat, Lourdes R., Swietach, Pawel
Publicado 2020

Dysregulated Cell Homeostasis and miRNAs in Human iPSC-Derived Cardiomyocytes from a Propionic Acidemia Patient with Cardiomyopathy

por Álvarez, Mar, Ruiz-Sala, Pedro, Pérez, Belén, Desviat, Lourdes Ruiz, Richard, Eva
Publicado 2023

The Binding Site of Human Adenosine Deaminase for Cd26/Dipeptidyl Peptidase IV: The Arg142gln Mutation Impairs Binding to Cd26 but Does Not Cause Immune Deficiency

por Richard, Eva, Arredondo-Vega, Francisco X., Santisteban, Ines, Kelly, Susan J., Patel, Dhavalkumar D., Hershfield, Michael S.
Publicado 2000

Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria

por Richard, Eva, Gallego-Villar, Lorena, Rivera-Barahona, Ana, Oyarzábal, Alfonso, Pérez, Belén, Rodríguez-Pombo, Pilar, Desviat, Lourdes R.
Publicado 2018

Dysregulated miRNAs and their pathogenic implications for the neurometabolic disease propionic acidemia

por Rivera-Barahona, Ana, Fulgencio-Covián, Alejandro, Pérez-Cerdá, Celia, Ramos, Ricardo, Barry, Michael A., Ugarte, Magdalena, Pérez, Belén, Richard, Eva, Desviat, Lourdes R
Publicado 2017

O-GlcNAcylation enhances CPS1 catalytic efficiency for ammonia and promotes ureagenesis

por Soria, Leandro R., Makris, Georgios, D’Alessio, Alfonso M., De Angelis, Angela, Boffa, Iolanda, Pravata, Veronica M., Rüfenacht, Véronique, Attanasio, Sergio, Nusco, Edoardo, Arena, Paola, Ferenbach, Andrew T., Paris, Debora, Cuomo, Paola, Motta, Andrea, Nitzahn, Matthew, Lipshutz, Gerald S., Martínez-Pizarro, Ainhoa, Richard, Eva, Desviat, Lourdes R., Häberle, Johannes, van Aalten, Daan M. F., Brunetti-Pierri, Nicola
Publicado 2022