SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing

por Santamaria, Raül, Vilageliu, Lluïsa, Grinberg, Daniel
Publicado 2008

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches

por Benetó, Noelia, Vilageliu, Lluïsa, Grinberg, Daniel, Canals, Isaac
Publicado 2020

EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome

por Canals, Isaac, Benetó, Noelia, Cozar, Mónica, Vilageliu, Lluïsa, Grinberg, Daniel
Publicado 2015

New murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease

por Gómez-Grau, Marta, Albaigès, Júlia, Casas, Josefina, Auladell, Carme, Dierssen, Mara, Vilageliu, Lluïsa, Grinberg, Daniel
Publicado 2017

Gaucher disease: Biochemical and molecular findings in 141 patients diagnosed in Greece

por Dimitriou, Evangelia, Moraitou, Marina, Cozar, Mónica, Serra-Vinardell, Jenny, Vilageliu, Lluïsa, Grinberg, Daniel, Mavridou, Irene, Michelakakis, Helen
Publicado 2020

A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease

por Malekkou, Anna, Sevastou, Ioanna, Mavrikiou, Gavriella, Georgiou, Theodoros, Vilageliu, Lluisa, Moraitou, Marina, Michelakakis, Helen, Prokopiou, Chrystalla, Drousiotou, Anthi
Publicado 2020

Mapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula

por Giraldo, Pilar, Alfonso, Pilar, Irún, Pilar, Gort, Laura, Chabás, Amparo, Vilageliu, Lluïsa, Grinberg, Daniel, Sá Miranda, Clara M, Pocovi, Miguel
Publicado 2012

Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux–Lamy syndrome): a case report

por Andrade, Isadora, Ribeiro, River, Carneiro, Zumira A., Giugliani, Roberto, Pereira, Catarina, Cozma, Claudia, Grinberg, Daniel, Vilageliu, Lluïsa, Lourenco, Charles M.
Publicado 2022

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

por Gómez-Grau, Marta, Garrido, Elena, Cozar, Mónica, Rodriguez-Sureda, Víctor, Domínguez, Carmen, Arenas, Concepción, Gatti, Richard A., Cormand, Bru, Grinberg, Daniel, Vilageliu, Lluïsa
Publicado 2015

Inhibition of Soluble Epoxide Hydrolase Ameliorates Phenotype and Cognitive Abilities in a Murine Model of Niemann Pick Type C Disease

por Griñán-Ferré, Christian, Companys-Alemany, Júlia, Jarné-Ferrer, Júlia, Codony, Sandra, González-Castillo, Celia, Ortuño-Sahagún, Daniel, Vilageliu, Lluïsa, Grinberg, Daniel, Vázquez, Santiago, Pallàs, Mercè
Publicado 2021

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

Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks

por Canals, Isaac, Soriano, Jordi, Orlandi, Javier G., Torrent, Roger, Richaud-Patin, Yvonne, Jiménez-Delgado, Senda, Merlin, Simone, Follenzi, Antonia, Consiglio, Antonella, Vilageliu, Lluïsa, Grinberg, Daniel, Raya, Angel
Publicado 2015

A De Novo FOXP1 Truncating Mutation in a Patient Originally Diagnosed as C Syndrome

por Urreizti, Roser, Damanti, Sarah, Esteve, Carla, Franco-Valls, Héctor, Castilla-Vallmanya, Laura, Tonda, Raul, Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Publicado 2018

Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development

por Benetó, Noelia, Cozar, Monica, Castilla-Vallmanya, Laura, Zetterdahl, Oskar G., Sacultanu, Madalina, Segur-Bailach, Eulalia, García-Morant, María, Ribes, Antonia, Ahlenius, Henrik, Grinberg, Daniel, Vilageliu, Lluïsa, Canals, Isaac
Publicado 2020

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase

por Brands, Marion M, Hoogeveen-Westerveld, Marianne, Kroos, Marian A, Nobel, Willemieke, Ruijter, George J, Özkan, Lale, Plug, Iris, Grinberg, Daniel, Vilageliu, Lluïsa, Halley, Dicky J, Ploeg, Ans T van der, Reuser, Arnold J
Publicado 2013

A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes

por Urreizti, Roser, Cueto-Gonzalez, Anna Maria, Franco-Valls, Héctor, Mort-Farre, Sílvia, Roca-Ayats, Neus, Ponomarenko, Julia, Cozzuto, Luca, Company, Carlos, Bosio, Mattia, Ossowski, Stephan, Montfort, Magda, Hecht, Jochen, Tizzano, Eduardo F., Cormand, Bru, Vilageliu, Lluïsa, Opitz, John M., Neri, Giovanni, Grinberg, Daniel, Balcells, Susana
Publicado 2017