Treatment of infantile-onset Pompe disease in a rat model with muscle-directed AAV gene therapy

Autor: Sergio Muñoz, Joan Bertolin, Veronica Jimenez, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Laia Vilà, Victor Sacristan, Elena Barbon, Giuseppe Ronzitti, Jihad El Andari, Warut Tulalamba, Quang Hong Pham, Jesus Ruberte, Thierry VandenDriessche, Marinee K. Chuah, Dirk Grimm, Federico Mingozzi, Fatima Bosch

Publikováno v: Molecular Metabolism, Vol 81, Iss , Pp 101899- (2024)

Objective: Pompe disease (PD) is caused by deficiency of the lysosomal enzyme acid α-glucosidase (GAA), leading to progressive glycogen accumulation and severe myopathy with progressive muscle weakness. In the Infantile-Onset PD (IOPD), death genera

Externí odkaz: https://doaj.org/article/51f4889c5f3c445fbc764529166584d8

Analysis of Parainflammation in Chronic Glaucoma Using Vitreous-OCT Imaging

Autor: María Jesús Rodrigo, Manuel Subías, Alberto Montolío, Silvia Méndez-Martínez, Teresa Martínez-Rincón, Lorena Arias, David García-Herranz, Irene Bravo-Osuna, Julian Garcia-Feijoo, Luis Pablo, José Cegoñino, Rocio Herrero-Vanrell, Ana Carretero, Jesus Ruberte, Elena Garcia-Martin, Amaya Pérez del Palomar

Publikováno v: Biomedicines, Vol 9, Iss 12, p 1792 (2021)

Glaucoma causes blindness due to the progressive death of retinal ganglion cells. The immune response chronically and subclinically mediates a homeostatic role. In current clinical practice, it is impossible to analyse neuroinflammation non-invasivel

Externí odkaz: https://doaj.org/article/f20f58b2759c42969ea123ed66414a9f

Novel Use of PLGA Microspheres to Create an Animal Model of Glaucoma with Progressive Neuroretinal Degeneration

Autor: David Garcia-Herranz, Maria Jesus Rodrigo, Manuel Subias, Teresa Martinez-Rincon, Silvia Mendez-Martinez, Irene Bravo-Osuna, Aina Bonet, Jesus Ruberte, Julian Garcia-Feijoo, Luis Pablo, Elena Garcia-Martin, Rocío Herrero-Vanrell

Publikováno v: Pharmaceutics, Vol 13, Iss 2, p 237 (2021)

Progressive degeneration of neuroretinal tissue with maintained elevated intraocular pressure (IOP) to simulate chronic glaucoma was produced by intracameral injections of poly (lactic-co-glycolic) acid (PLGA) microspheres (Ms) in rat eyes. The right

Externí odkaz: https://doaj.org/article/c1026394f17840c589e696776cc3a9d1

Long-term retinal PEDF overexpression prevents neovascularization in a murine adult model of retinopathy.

Autor: Virginia Haurigot, Pilar Villacampa, Albert Ribera, Assumpcio Bosch, David Ramos, Jesus Ruberte, Fatima Bosch

Publikováno v: PLoS ONE, Vol 7, Iss 7, p e41511 (2012)

Neovascularization associated with diabetic retinopathy (DR) and other ocular disorders is a leading cause of visual impairment and adult-onset blindness. Currently available treatments are merely palliative and offer temporary solutions. Here, we te

Externí odkaz: https://doaj.org/article/e6c05e1f4d9d48f58b856f4efd74bff3

EuroPhenome: a repository for high-throughput mouse phenotyping data

Autor: Karen B Avraham, Ramiro Ramirez-Solis, Michel Roux, Paul Potter, Vassilis Aidinis, Rudi Balling, Annemarie Zimprich, Andrew Blake, Pierre Dubus, FATIMA BOSCH, Ann-Marie Mallon, Paul Denny, Daniela Marazziti, CECILIA MANNIRONI, RAFAELE MATTEONI, Holger Maier, Jan Rozman, Marc Le Bert, Werner Muller, Martin Klingenspor, Daniela Vogt Weisenhorn, Elizabeth Cartwright, Nadia Rosenthal, Christine Podrini, David Richardson, Marcello Raspa, Lore Becker, Tura Ferre, John Hancock, Tim Beck, Markus W. Ollert, Natasha Karp, Eckhard Wolf, Sylvie Franckhauser, Ian Jackson, GIUSEPPEDOMENICO TOCCHINIVALENTINI, Liliane Michalik, Veronique Brault, Jean Louis Mandel, Martin Hrabe de Angelis, CHIARA DI PIETRO, ELENI DOUNI, Sabine Hölter-Koch, SOPHIA DJEBALI, Lydia Teboul, Amiel Dror, SABRINA PUTTI, JESUS RUBERTE, Wolfgang Wurst, Yann Herault, Lillian Garrett, Sukhpal Prehar, Jacqueline Marvel, Beatrice Desvergne, Silvia Mandillo, GIANCARLO DEIDDA

Publikováno v: Nucleic acids research 38 (2010): D577–D585. doi:10.1093/nar/gkp1007
info:cnr-pdr/source/autori:Morgan H; Beck T; Blake A; Gates H; Adams N; Debouzy G; Leblanc S; Lengger C; Maier H; Melvin D; Meziane H; Richardson D; Wells S; White J; Wood J; The EUMODIC Consortium; de Angelis MH; Brown SD; Hancock JM; Mallon AM./titolo:EuroPhenome: a repository for high-throughput mouse phenotyping data/doi:10.1093%2Fnar%2Fgkp1007/rivista:Nucleic acids research/anno:2010/pagina_da:D577/pagina_a:D585/intervallo_pagine:D577–D585/volume:38
Nucleic Acids Research
Nucleic Acids Res. 38, 1, D577-D585 (2010)
Morgan, H, Beck, T, Blake, A, Gates, H, Adams, N, Debouzy, G, Leblanc, S, Lengger, C, Maier, H, Melvin, D, Meziane, H, Richardson, D, Wells, S, White, J, Wood, J, De Angelis, M H, Brown, S D M, Hancock, J M, Mallon, A M, Neyses, L, Cartwright, E, Prehar, S, Zi, M & Muller, W 2009, ' EuroPhenome: A repository for high-throughput mouse phenotyping data ', Nucleic acids research., vol. 38, no. 1, pp. D577-D585 . https://doi.org/10.1093/nar/gkp1007
D585
D577

The broad aim of biomedical science in the postgenomic era is to link genomic and phenotype information to allow deeper understanding of the processes leading from genomic changes to altered phenotype and disease. The EuroPhenome project (http://www.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b704c4cc9e74669375313eda984abfcf