Antisense Mediated Splicing Modulation For Inherited Metabolic Diseases: Challenges for Delivery

od Pérez, Belen, Vilageliu, Lluisa, Grinberg, Daniel, Desviat, Lourdes R.
Izdano 2014

Endoplasmic Reticulum Stress and Autophagy in Homocystinuria Patients with Remethylation Defects

od Martínez-Pizarro, Ainhoa, Desviat, Lourdes R., Ugarte, Magdalena, Pérez, Belén, Richard, Eva
Izdano u PLoS One (2016)

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

od Martínez-Pizarro, Ainhoa, Dembic, Maja, Pérez, Belén, Andresen, Brage S., Desviat, Lourdes R.
Izdano u PLoS Genet (2018)

Cardiac Complications of Propionic and Other Inherited Organic Acidemias

od Park, Kyung Chan, Krywawych, Steve, Richard, Eva, Desviat, Lourdes R., Swietach, Pawel
Izdano u Front Cardiovasc Med (2020)

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

od Gallego-Villar, Lorena, Viecelli, Hiu Man, Pérez, Belén, Harding, Cary O, Ugarte, Magdalena, Thöny, Beat, Desviat, Lourdes R
Izdano u Mol Ther Nucleic Acids (2014)

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

od Richard, Eva, Gallego-Villar, Lorena, Rivera-Barahona, Ana, Oyarzábal, Alfonso, Pérez, Belén, Rodríguez-Pombo, Pilar, Desviat, Lourdes R.
Izdano u Oxid Med Cell Longev (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

od Matos, Liliana, Gonçalves, Vânia, Pinto, Eugénia, Laranjeira, Francisco, Prata, Maria João, Jordan, Peter, Desviat, Lourdes R., Pérez, Belén, Alves, Sandra
Izdano u Data Brief (2015)

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

od Jorge-Finnigan, Ana, Brasil, Sandra, Underhaug, Jarl, Ruíz-Sala, Pedro, Merinero, Begoña, Banerjee, Ruma, Desviat, Lourdes R., Ugarte, Magdalena, Martinez, Aurora, Pérez, Belén
Izdano 2013

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

od Yuste-Checa, Patricia, Vega, Ana I., Martín-Higueras, Cristina, Medrano, Celia, Gámez, Alejandra, Desviat, Lourdes R., Ugarte, Magdalena, Pérez-Cerdá, Celia, Pérez, Belén
Izdano u PLoS One (2017)

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

od Rivera-Barahona, Ana, Fulgencio-Covián, Alejandro, Pérez-Cerdá, Celia, Ramos, Ricardo, Barry, Michael A., Ugarte, Magdalena, Pérez, Belén, Richard, Eva, Desviat, Lourdes R
Izdano u Sci Rep (2017)

Functional and Structural Analysis of Five Mutations Identified in Methylmalonic Aciduria cbIB Type

od Jorge-Finnigan, Ana, Aguado, Cristina, Sánchez-Alcudia, Rocio, Abia, David, Richard, Eva, Merinero, Begoña, Gámez, Alejandra, Banerjee, Ruma, Desviat, Lourdes R., Ugarte, Magdalena, Pérez, Belen
Izdano 2010

Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing

od Trujillano, Daniel, Perez, Belén, González, Justo, Tornador, Cristian, Navarrete, Rosa, Escaramis, Georgia, Ossowski, Stephan, Armengol, Lluís, Cornejo, Verónica, Desviat, Lourdes R, Ugarte, Magdalena, Estivill, Xavier
Izdano 2014

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

od 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
Izdano u Orphanet J Rare Dis (2014)

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

od Erlandsen, Heidi, Pey, Angel L., Gámez, Alejandra, Pérez, Belén, Desviat, Lourdes R., Aguado, Cristina, Koch, Richard, Surendran, Sankar, Tyring, Stephen, Matalon, Reuben, Scriver, Charles R., Ugarte, Magdalena, Martínez, Aurora, Stevens, Raymond C.
Izdano 2004

The Molecular Basis of 3-Methylcrotonylglycinuria, a Disorder of Leucine Catabolism

od Gallardo, M. Esther, Desviat, Lourdes R., Rodríguez, José M., Esparza-Gordillo, Jorge, Pérez-Cerdá, Celia, Pérez, Belén, Rodríguez-Pombo, Pilar, Criado, Olga, Sanz, Raul, Morton, D. Holmes, Gibson, K. Michael, Le, Thuy P., Ribes, Antonia, de Córdoba, Santiago Rodríguez, Ugarte, Magdalena, Peñalva, Miguel Á.
Izdano 2001

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

od 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
Izdano u EMBO Mol Med (2017)

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

od 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
Izdano u Orphanet J Rare Dis (2018)

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

od 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
Izdano u J Clin Med (2019)

Delivery of oligonucleotide‐based therapeutics: challenges and opportunities

od 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
Izdano u EMBO Mol Med (2021)

A Novel Dominant Hyperekplexia Mutation Y705C Alters Trafficking and Biochemical Properties of the Presynaptic Glycine Transporter GlyT2

od Giménez, Cecilio, Pérez-Siles, Gonzalo, Martínez-Villarreal, Jaime, Arribas-González, Esther, Jiménez, Esperanza, Núñez, Enrique, de Juan-Sanz, Jaime, Fernández-Sánchez, Enrique, García-Tardón, Noemí, Ibáñez, Ignacio, Romanelli, Valeria, Nevado, Julián, James, Victoria M., Topf, Maya, Chung, Seo-Kyung, Thomas, Rhys H., Desviat, Lourdes R., Aragón, Carmen, Zafra, Francisco, Rees, Mark I., Lapunzina, Pablo, Harvey, Robert J., López-Corcuera, Beatriz
Izdano 2012