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

Cardiac Complications of Propionic and Other Inherited Organic Acidemias

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

A Sensitive Assay System To Test Antisense Oligonucleotides for Splice Suppression Therapy in the Mouse Liver

por Gallego-Villar, Lorena, Viecelli, Hiu Man, Pérez, Belén, Harding, Cary O, Ugarte, Magdalena, Thöny, Beat, Desviat, Lourdes R
Publicado 2014

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

Data in support of a functional analysis of splicing mutations in the IDS gene and the use of antisense oligonucleotides to exploit an alternative therapy for MPS II

por Matos, Liliana, Gonçalves, Vânia, Pinto, Eugénia, Laranjeira, Francisco, Prata, Maria João, Jordan, Peter, Desviat, Lourdes R., Pérez, Belén, Alves, Sandra
Publicado 2015

DPAGT1-CDG: Functional analysis of disease-causing pathogenic mutations and role of endoplasmic reticulum stress

por Yuste-Checa, Patricia, Vega, Ana I., Martín-Higueras, Cristina, Medrano, Celia, Gámez, Alejandra, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
Publicado 2017

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

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

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations

por Matos, Liliana, Canals, Isaac, Dridi, Larbi, Choi, Yoo, Prata, Maria João, Jordan, Peter, Desviat, Lourdes R, Pérez, Belén, Pshezhetsky, Alexey V, Grinberg, Daniel, Alves, Sandra, Vilageliu, Lluïsa
Publicado 2014

Delivery is key: lessons learnt from developing splice‐switching antisense therapies

por Godfrey, Caroline, Desviat, Lourdes R, Smedsrød, Bård, Piétri‐Rouxel, France, Denti, Michela A, Disterer, Petra, Lorain, Stéphanie, Nogales‐Gadea, Gisela, Sardone, Valentina, Anwar, Rayan, EL Andaloussi, Samir, Lehto, Taavi, Khoo, Bernard, Brolin, Camilla, van Roon‐Mom, Willeke MC, Goyenvalle, Aurélie, Aartsma‐Rus, Annemieke, Arechavala‐Gomeza, Virginia
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

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

por Brasil, Sandra, Leal, Fátima, Vega, Ana, Navarrete, Rosa, Ecay, María Jesús, Desviat, Lourdes R., Riera, Casandra, Padilla, Natàlia, de la Cruz, Xavier, Couce, Mari Luz, Martin-Hernández, Elena, Morais, Ana, Pedrón, Consuelo, Peña-Quintana, Luis, Rigoldi, Miriam, Specola, Norma, de Almeida, Isabel Tavares, Vives, Inmaculada, Yahyaoui, Raquel, Rodríguez-Pombo, Pilar, Ugarte, Magdalena, Pérez-Cerda, Celia, Merinero, Begoña, Pérez, Belén
Publicado 2018

Genes and Variants Underlying Human Congenital Lactic Acidosis—From Genetics to Personalized Treatment

por Bravo-Alonso, Irene, Navarrete, Rosa, Vega, Ana Isabel, Ruíz-Sala, Pedro, García Silva, María Teresa, Martín-Hernández, Elena, Quijada-Fraile, Pilar, Belanger-Quintana, Amaya, Stanescu, Sinziana, Bueno, María, Vitoria, Isidro, Toledo, Laura, Couce, María Luz, García-Jiménez, Inmaculada, Ramos-Ruiz, Ricardo, Martín, Miguel Ángel, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Merinero, Begoña, Pérez, Belén, Rodríguez-Pombo, Pilar
Publicado 2019

Delivery of oligonucleotide‐based therapeutics: challenges and opportunities

por Hammond, Suzan M, Aartsma‐Rus, Annemieke, Alves, Sandra, Borgos, Sven E, Buijsen, Ronald A M, Collin, Rob W J, Covello, Giuseppina, Denti, Michela A, Desviat, Lourdes R, Echevarría, Lucía, Foged, Camilla, Gaina, Gisela, Garanto, Alejandro, Goyenvalle, Aurelie T, Guzowska, Magdalena, Holodnuka, Irina, Jones, David R, Krause, Sabine, Lehto, Taavi, Montolio, Marisol, Van Roon‐Mom, Willeke, Arechavala‐Gomeza, Virginia
Publicado 2021