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

Por Pérez, Belen, Vilageliu, Lluisa, Grinberg, Daniel, Desviat, Lourdes R.
Publicado em 2014

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 no PLoS One (2016)

Switching Hemispheres: A New Migration Strategy for the Disjunct Argentinean Breeding Population of Barn Swallow (Hirundo rustica)

Por Garcia-Perez, Belen, Hobson, Keith A., Powell, Rebecca L., Still, Christopher J., Huber, Gernot H.
Publicado em 2013

Undifferentiated and Differentiated PC12 Cells Protected by Huprines Against Injury Induced by Hydrogen Peroxide

Por Pera, Marta, Camps, Pelayo, Muñoz-Torrero, Diego, Perez, Belen, Badia, Albert, Clos Guillen, M Victoria
Publicado em 2013

Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria

Por Wettstein, Sarah, Underhaug, Jarl, Perez, Belen, Marsden, Brian D, Yue, Wyatt W, Martinez, Aurora, Blau, Nenad
Publicado no Eur J Hum Genet (2015)

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 no Mol Ther Nucleic Acids (2014)

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 no Data Brief (2015)

Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of the Literature

Por Vitoria, Isidro, Martín-Hernández, Elena, Peña-Quintana, Luis, Bueno, María, Quijada-Fraile, Pilar, Dalmau, Jaime, Molina-Marrero, Sofia, Pérez, Belén, Merinero, Begoña
Publicado no JIMD Rep (2015)

Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

Por Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Publicado no PLoS One (2015)

Correction: Functional Characterization of the spf/ash Splicing Variation in OTC Deficiency of Mice and Man

Por Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Publicado no PLoS One (2015)

cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period

Por Palanca, Daniel, Garcia-Cazorla, Angels, Ortiz, Jessica, Jou, Cristina, Cusí, Victoria, Suñol, Mariona, Toll, Teresa, Perez, Belén, Ormazabal, Aida, Fowler, Brian, Artuch, Rafael
Publicado em 2012

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

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

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 no PLoS One (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 no Sci Rep (2017)

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

Por 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
Publicado em 2010

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

Por 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
Publicado em 2014

Pharmacokinetics of experimental pentavalent antimony after intramuscular administration in adult volunteers()

Por Vásquez, Laura, Scorza Dagert, José V., Scorza, José V., Vicuña-Fernández, Nelson, de Peña, Yaneira Petit, López, Sabrina, Bendezú, Herminia, Rojas, Elina, Vásquez, Libia, Pérez, Belén
Publicado em 2006

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 no Orphanet J Rare Dis (2014)

Synthesis and biological evaluation of N-cyanoalkyl-, N-aminoalkyl-, and N-guanidinoalkyl-substituted 4-aminoquinoline derivatives as potent, selective, brain permeable antitrypano...

Por Sola, Irene, Artigas, Albert, Taylor, Martin C., Pérez-Areales, F. Javier, Viayna, Elisabet, Clos, M. Victòria, Pérez, Belén, Wright, Colin W., Kelly, John M., Muñoz-Torrero, Diego
Publicado no Bioorg Med Chem (2016)

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

Por 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.
Publicado em 2004