Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches

by Noelia Benetó, Lluïsa Vilageliu, Daniel Grinberg, Isaac Canals
Published 2020-10-01

Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients

by Raül Santamaria, Amparo Chabás, John W. Callahan, Daniel Grinberg, Lluïsa Vilageliu
Published 2007-10-01

Generation of two NAGLU-mutated homozygous cell lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo B syndrome

by Noelia Benetó, Monica Cozar, Laura Gort, Laura Pacheco, Lluïsa Vilageliu, Daniel Grinberg, Isaac Canals
Published 2020-01-01

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

by Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis
Published 2020-09-01

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

by Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Published 2020-03-01

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

by Marta Gómez-Grau, Elena Garrido, Mónica Cozar, Víctor Rodriguez-Sureda, Carmen Domínguez, Concepción Arenas, Richard A Gatti, Bru Cormand, Daniel Grinberg, Lluïsa Vilageliu
Published 2015-01-01

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

by Christian Griñán-Ferré, Júlia Companys-Alemany, Júlia Jarné-Ferrer, Sandra Codony, Celia González-Castillo, Daniel Ortuño-Sahagún, Lluïsa Vilageliu, Daniel Grinberg, Santiago Vázquez, Mercè Pallàs
Published 2021-03-01

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

by Isaac Canals, Jordi Soriano, Javier G. Orlandi, Roger Torrent, Yvonne Richaud-Patin, Senda Jiménez-Delgado, Simone Merlin, Antonia Follenzi, Antonella Consiglio, Lluïsa Vilageliu, Daniel Grinberg, Angel Raya
Published 2015-10-01

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

by Noelia Benetó, Monica Cozar, Laura Castilla-Vallmanya, Oskar G. Zetterdahl, Madalina Sacultanu, Eulalia Segur-Bailach, María García-Morant, Antonia Ribes, Henrik Ahlenius, Daniel Grinberg, Lluïsa Vilageliu, Isaac Canals
Published 2020-02-01

Cholesterol Regulates Syntaxin 6 Trafficking at trans-Golgi Network Endosomal Boundaries

by Meritxell Reverter, Carles Rentero, Ana Garcia-Melero, Monira Hoque, Sandra Vilà de Muga, Anna Álvarez-Guaita, James R.W. Conway, Peta Wood, Rose Cairns, Lilia Lykopoulou, Daniel Grinberg, Lluïsa Vilageliu, Marta Bosch, Joerg Heeren, Juan Blasi, Paul Timpson, Albert Pol, Francesc Tebar, Rachael Z. Murray, Thomas Grewal, Carlos Enrich
Published 2014-05-01