sp2-Iminosugars targeting human lysosomal β-hexosaminidase as pharmacological chaperone candidates for late-onset Tay-Sachs disease

Autor: Manuel González-Cuesta, Irene Herrera-González, M. Isabel García-Moreno, Roger A. Ashmus, David J. Vocadlo, José M. García Fernández, Eiji Nanba, Katsumi Higaki, Carmen Ortiz Mellet

Publikováno v: Journal of Enzyme Inhibition and Medicinal Chemistry, Vol 37, Iss 1, Pp 1364-1374 (2022)

The late-onset form of Tay-Sachs disease displays when the activity levels of human β-hexosaminidase A (HexA) fall below 10% of normal, due to mutations that destabilise the native folded form of the enzyme and impair its trafficking to the lysosome

Externí odkaz: https://doaj.org/article/669c8768aeed4cfeb39c9878c1d290c2

Clinical phenotypes and quality of life to define post-COVID-19 syndrome: a cluster analysis of the multinational, prospective ORCHESTRA cohortResearch in context

Autor: Elisa Gentilotti, Anna Górska, Adriana Tami, Roy Gusinow, Massimo Mirandola, Jesús Rodríguez Baño, Zaira R. Palacios Baena, Elisa Rossi, Jan Hasenauer, Iris Lopes-Rafegas, Elda Righi, Natascia Caroccia, Salvatore Cataudella, Zeno Pasquini, Thomas Osmo, Lidia Del Piccolo, Alessia Savoldi, Samir Kumar-Singh, Fulvia Mazzaferri, Maria Giulia Caponcello, Gerolf de Boer, Gabriel Levy Hara, Pasquale De Nardo, Surbhi Malhotra, Lorenzo Maria Canziani, Jade Ghosn, Aline-Marie Florence, Nadhem Lafhej, Bernardina T.F. van der Gun, Maddalena Giannella, Cédric Laouénan, Evelina Tacconelli, Mariana Nunes Pinho Guedes, Gaia Maccarrone, Maria Diletta Pezzani, Marcella Sibani, Ruth Joanna Davies, Stefania Vitali, Giorgia Franchina, Giorgia Tomassini, Concetta Sciammarella, Riccardo Cecchetto, Davide Gibellini, Chiara Konishi De Toffoli, Giulia Rosini, Chiara Perlini, Marco Meroi, Filippo Cioli Puviani, Daniele Fasan, Claudio Micheletto, Stefania Montemezzi, Nicolò Cardobi, Gianluca Vantini, Gloria Mazzali, Giovanni Stabile, Maddalena Marcanti, Marco Pattaro Zonta, Deborah Calì, Anna Mason, Cinzia Perlini, Paolo Gisondi, Maria Mongardi, Simona Sorbello, Karin I. Wold, María F. Vincenti-González, Alida C.M. Veloo, Valerie P.R. Harmsma, Daniele Pantano, Margriet van der Meer, Lilli Gard, Erley F. Lizarazo, Marjolein Knoester, Alex W. Friedrich, Hubert G.M. Niesters, Pierluigi Viale, Domenico Marzolla, Federica Cosentino, Michela Di Chiara, Giacomo Fornaro, Cecilia Bonazzetti, Beatrice Tazza, Alice Toschi, Oana Vetamanu, Maria Eugenia Giacomini, Fabio Trapani, Lorenzo Marconi, Luciano Attard, Sara Tedeschi, Liliana Gabrielli, Tiziana Lazzarotto, Paula Olivares, Javier Castilla, Javier Vélez, Virginia Almadana, Lucía Martín-Barrera, Ana Belén Martín-Gutiérrez, David Gutiérrez-Campos, Marta Fernández-Regaña, Ana Silva-Campos, Patricia Fernández-Riejos, M. Isabel García-Sánchez, Carla V. Giuliano, Carlota López, Gabriela Neumann, Julieta Camporro, Lautaro de Vedia, Hugo Agugliaro, Gabriella Scipione, Chiara Dellacasa, Balasubramanian Chandramouli, Silvia Gioiosa, Juan Mata Naranjo, Maurizio Ortali, Angelina Konnova, Akshita Gupta, Mathias Smet, An Hotterbeekx, Matilda Berkell, Elisa Sicuri, Delphine Bachelet, Lila Bouadma, Minerva Cervantes-Gonzalez, Anissa Chair, Charlotte Charpentier, Léo Chenard, Diane Descamps, Hang Doan, Xavier Duval, Marina Esposito-Farese, Isabelle Hoffmann, Ouifiya Kafif, Quentin Le Hingrat, Sophie Letrou, France Mentré, Marion Schneider, Coralie Tardivon, Jean-Francois Timsit, Sarah Tubiana, Amal Abrous, Sandrine Couffin-Cadiergues, Fernanda Dias Da Silva, Hélène Esperou, Ikram Houas, Salma Jaafoura, Aurélie Papadopoulos, Severine Ansart, Adrien Auvet, Firouzé Bani-Sadr, L. Bernard, François Bissuel, Elisabeth Botelho-Nevers, Damien Bouhour, André Cabié, Pauline Caraux Paz, Christian Chidiac, Catherine Chirouze, Tomasz Chroboczek, Hugues Cordel, Roxane Courtois, Nathalie De Castro, Sylvain Diamamntis, Jean-Luc Diehl, Felix Djossou, Céline Dorival, Olivier Epaulard, Valerie Gaborieau, François Goehringer, Marie Gousseff, Simon Jamard, Cedric Joseph, Karine Lacombe, Soizic Le Mestre, Vincent Le Moing, Jean-Daniel Lelievre, Olivier Lesens, M. Machado, Mylène Maillet, Victoria Manda, Guillaume Martin-Blondel, Martin Martinot, Vanina Meysonnier, Jean-Michel Molina, Eric Oziol, Vincent Pestre, Lionel Piroth, Julien Poissy, Christian Rabaud, François Raffi, Blandine Rammaert, Christophe Rapp, Stanislas Rebaudet, Pierre-Marie Roger, Damien Roux, Eric Senneville, Pierre Tattevin, Aurélie Wiedemann, David Zucman

Publikováno v: EClinicalMedicine, Vol 62, Iss , Pp 102107- (2023)

Summary: Background: Lack of specific definitions of clinical characteristics, disease severity, and risk and preventive factors of post-COVID-19 syndrome (PCS) severely impacts research and discovery of new preventive and therapeutics drugs. Methods

Externí odkaz: https://doaj.org/article/22600d8ef9254da88af1d1e9de66fe78

Clinical and biological markers for predicting ARDS and outcome in septic patients

Autor: Jesús Villar, Rubén Herrán-Monge, Elena González-Higueras, Miryam Prieto-González, Alfonso Ambrós, Aurelio Rodríguez-Pérez, Arturo Muriel-Bombín, Rosario Solano, Cristina Cuenca-Rubio, Anxela Vidal, Carlos Flores, Jesús M. González-Martín, M. Isabel García-Laorden, Genetics of Sepsis (GEN-SEP) Network

Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)

Abstract Sepsis is a common cause of acute respiratory distress syndrome (ARDS) associated with a high mortality. A panel of biomarkers (BMs) to identify septic patients at risk for developing ARDS, or at high risk of death, would be of interest for

Externí odkaz: https://doaj.org/article/eb84a8637b1a44debce07e112513328f

Systemic Effects Induced by Hyperoxia in a Preclinical Model of Intra-abdominal Sepsis

Autor: M. Isabel García-Laorden, Raquel Rodríguez-González, José L. Martín-Barrasa, Sonia García-Hernández, Ángela Ramos-Nuez, H. Celeste González-García, Jesús M. González-Martín, Robert M. Kacmarek, Jesús Villar

Publikováno v: Mediators of Inflammation, Vol 2020 (2020)

Supplemental oxygen is a supportive treatment in patients with sepsis to balance tissue oxygen delivery and demand in the tissues. However, hyperoxia may induce some pathological effects. We sought to assess organ damage associated with hyperoxia and

Externí odkaz: https://doaj.org/article/b08219e9f7fd4265bdd7dc510213c983

Sex Determination in Two Species of Anuran Amphibians by Magnetic Resonance Imaging and Ultrasound Techniques

Autor: María José Ruiz-Fernández, Sara Jiménez, Encarnación Fernández-Valle, M. Isabel García-Real, David Castejón, Nerea Moreno, María Ardiaca, Andrés Montesinos, Salvador Ariza, Juncal González-Soriano

Publikováno v: Animals, Vol 10, Iss 11, p 2142 (2020)

The objective of the present study was to evaluate whether gender determination in two amphibian species (Kaloula pulchra and Xenopus laevis) can be reliably carried out by means of magnetic resonance imaging (benchtop magnetic resonance imaging; BT-

Externí odkaz: https://doaj.org/article/6af6d3cc28b8422396f0f55c672a3eea