Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Lluisa Vilageliu"'
Autor:
Anna Malekkou, Ioanna Sevastou, Gavriella Mavrikiou, Theodoros Georgiou, Lluisa Vilageliu, Marina Moraitou, Helen Michelakakis, Chrystalla Prokopiou, Anthi Drousiotou
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing
Externí odkaz:
https://doaj.org/article/ed28cb0f8c164a91bcb9899c190800d3
Autor:
Isadora Andrade, River Ribeiro, Zumira A. Carneiro, Roberto Giugliani, Catarina Pereira, Claudia Cozma, Daniel Grinberg, Lluïsa Vilageliu, Charles M. Lourenco
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Background Mucopolysaccharidosis VI, or Maroteaux–Lamy disease, is an autosomal recessive disease characterized by deficiency of the enzyme arylsulfatase B in the lysosomal catabolism of glycosaminoglycans. Due to reduced (or even null) en
Externí odkaz:
https://doaj.org/article/6ddbc9dc239d45769128ef2220eba000
Autor:
Evangelia Dimitriou, Marina Moraitou, Mónica Cozar, Jenny Serra-Vinardell, Lluïsa Vilageliu, Daniel Grinberg, Irene Mavridou, Helen Michelakakis
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100614- (2020)
Gaucher disease (GD) is characterized by a marked phenotypic and genetic diversity. It is caused by the functional deficiency of the lysosomal enzyme β-glucocerebrosidase (GCase), which in most instances results from mutations in the GBA1 gene and o
Externí odkaz:
https://doaj.org/article/db1b2d148fd249fea79ee6f766ac274f
Autor:
Noelia Benetó, Monica Cozar, Laura Gort, Laura Pacheco, Lluïsa Vilageliu, Daniel Grinberg, Isaac Canals
Publikováno v:
Stem Cell Research, Vol 42, Iss , Pp - (2020)
Externí odkaz:
https://doaj.org/article/41f73bb302f04b13a76e72b5fbda0a02
Autor:
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
Publikováno v:
Stem Cell Reports, Vol 5, Iss 4, Pp 546-557 (2015)
Induced pluripotent stem cell (iPSC) technology has been successfully used to recapitulate phenotypic traits of several human diseases in vitro. Patient-specific iPSC-based disease models are also expected to reveal early functional phenotypes, altho
Externí odkaz:
https://doaj.org/article/41412330940d4205b3aa8f678df1978c
Autor:
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
Publikováno v:
Cell Reports, Vol 7, Iss 3, Pp 883-897 (2014)
Inhibition of cholesterol export from late endosomes causes cellular cholesterol imbalance, including cholesterol depletion in the trans-Golgi network (TGN). Here, using Chinese hamster ovary (CHO) Niemann-Pick type C1 (NPC1) mutant cell lines and hu
Externí odkaz:
https://doaj.org/article/06a91864d03547b39c978ce313decb26
Publikováno v:
Journal of Lipid Research, Vol 48, Iss 10, Pp 2275-2282 (2007)
GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene. On reaching the endosomal-lysosomal compartment, the β-galactosidase protein associates with t
Externí odkaz:
https://doaj.org/article/c812617b08cd4dc180f200e5451a83d3
Autor:
Marta Gómez-Grau, Elena Garrido, Mónica Cozar, Víctor Rodriguez-Sureda, Carmen Domínguez, Concepción Arenas, Richard A Gatti, Bru Cormand, Daniel Grinberg, Lluïsa Vilageliu
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0135873 (2015)
Nonsense mutations are quite prevalent in inherited diseases. Readthrough drugs could provide a therapeutic option for any disease caused by this type of mutation. Geneticin (G418) and gentamicin were among the first to be described. Novel compounds
Externí odkaz:
https://doaj.org/article/909ebe48748f44eea94e58b1a585b559