RNA solutions to treat inborn errors of metabolism

por Martinez-Pizarro, Ainhoa, Desviat, Lourdes R.
Publicado 2022

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

Intronic PAH gene mutations cause a splicing defect by a novel mechanism involving U1snRNP binding downstream of the 5’ splice site

por Martínez-Pizarro, Ainhoa, Dembic, Maja, Pérez, Belén, Andresen, Brage S., Desviat, Lourdes R.
Publicado 2018

Antisense Oligonucleotide Rescue of Deep-Intronic Variants Activating Pseudoexons in the 6-Pyruvoyl-Tetrahydropterin Synthase Gene

por Martínez-Pizarro, Ainhoa, Leal, Fátima, Holm, Lise Lolle, Doktor, Thomas K., Petersen, Ulrika S.S., Bueno, María, Thöny, Beat, Pérez, Belén, Andresen, Brage S., Desviat, Lourdes R.
Publicado 2022

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