المؤلفون: Trevisan, Marta, Pianezzola, Anna, Onorati, Marco, Apolloni, Lorenzo, Pistello, Mauro, Arav-Boger, Ravit, Palù, Giorgio, Mercorelli, Beatrice, Loregian, Arianna

المساهمون: Ministero dell'Istruzione dell'Universita e della Ricerca

المصدر: Antiviral Research ; volume 223, page 105816 ; ISSN 0166-3542

مصطلحات موضوعية: Virology, Pharmacology

الإتاحة: https://doi.org/10.1016/j.antiviral.2024.105816Test
https://api.elsevier.com/content/article/PII:S016635422400024X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S016635422400024X?httpAccept=text/plainTest

المؤلفون: Mauri, Sofia, Bernardo, Greta, Martinez, Aitor, Favaro, Mariavittoria, Trevisan, Marta, Cobraiville, Gaël, Fillet, Marianne, Caicci, Federico, Whitworth, Alexander J, Ziviani, Elena

المساهمون: CIRM - Centre Interdisciplinaire de Recherche sur le Médicament - ULiège, BE

المصدر: Cells, 12 (8), 1143 (2023-04-13)

مصطلحات موضوعية: DUBs, Parkin, USP8, autophagy, mitophagy, Ubiquitin-Protein Ligases, Protein Kinases, USP8 protein, human, Endopeptidases, Ubiquitin Thiolesterase, Endosomal Sorting Complexes Required for Transport, PINK1 protein, Drosophila, Protein Serine-Threonine Kinases, Drosophila Proteins, Animals, Humans, Down-Regulation, Drosophila/metabolism, Drosophila melanogaster/metabolism, Ubiquitin-Protein Ligases/metabolism, Protein Kinases/metabolism, Brain/metabolism, Neurons/metabolism, Endopeptidases/metabolism, Ubiquitin Thiolesterase/metabolism, Endosomal Sorting Complexes Required for Transport/metabolism, Protein Serine-Threonine Kinases/metabolism, Mitophagy/genetics, Drosophila Proteins/metabolism, Brain, Drosophila, Drosophila melanogaster, Neurons, Biochemistry, Genetics and Molecular Biology (all), General Medicine, Human health sciences, Pharmacy, pharmacology & toxicology, Sciences de la santé humaine, Pharmacie, pharmacologie & toxicologie

الوصف: Stress-induced mitophagy, a tightly regulated process that targets dysfunctional mitochondria for autophagy-dependent degradation, mainly relies on two proteins, PINK1 and Parkin, which genes are mutated in some forms of familiar Parkinson's Disease (PD). Upon mitochondrial damage, the protein kinase PINK1 accumulates on the organelle surface where it controls the recruitment of the E3-ubiquitin ligase Parkin. On mitochondria, Parkin ubiquitinates a subset of mitochondrial-resident proteins located on the outer mitochondrial membrane, leading to the recruitment of downstream cytosolic autophagic adaptors and subsequent autophagosome formation. Importantly, PINK1/Parkin-independent mitophagy pathways also exist that can be counteracted by specific deubiquitinating enzymes (DUBs). Down-regulation of these specific DUBs can presumably enhance basal mitophagy and be beneficial in models in which the accumulation of defective mitochondria is implicated. Among these DUBs, USP8 is an interesting target because of its role in the endosomal pathway and autophagy and its beneficial effects, when inhibited, in models of neurodegeneration. Based on this, we evaluated autophagy and mitophagy levels when USP8 activity is altered. We used genetic approaches in D. melanogaster to measure autophagy and mitophagy in vivo and complementary in vitro approaches to investigate the molecular pathway that regulates mitophagy via USP8. We found an inverse correlation between basal mitophagy and USP8 levels, in that down-regulation of USP8 correlates with increased Parkin-independent mitophagy. These results suggest the existence of a yet uncharacterized mitophagic pathway that is inhibited by USP8.

العلاقة: https://www.mdpi.com/2073-4409/12/8/1143/pdfTest; urn:issn:2073-4409

الوصول الحر: https://orbi.uliege.be/handle/2268/316584Test

المؤلفون: Gervais, Adrian, Rovida, Francesca, Avanzini, Maria, Antonietta, Croce, Stefania, Marchal, Astrid, Lin, Shih-Ching, Ferrari, Alessandro, Thorball, Christian, W, Constant, Orianne, Le Voyer, Tom, Philippot, Quentin, Rosain, Jérémie, Angelini, Micol, Pérez Lorenzo, Malena, Bizien, Lucy, Achille, Cristian, Trespidi, Francesca, Burdino, Elisa, Cassaniti, Irene, Lilleri, Daniele, Fornara, Chiara, Sammartino, José, Camilla, Cereda, Danilo, Marrocu, Chiara, Piralla, Antonio, Valsecchi, Chiara, Ricagno, Stefano, Cogo, Paola, Neth, Olaf, Marín-Cruz, Inés, Pacenti, Monia, Sinigaglia, Alessandro, Trevisan, Marta, Volpe, Andrea, Marzollo, Antonio, Conti, Francesca, Lazzarotto, Tiziana, Pession, Andrea, Viale, Pierluigi, Fellay, Jacques, Ghirardello, Stefano, Aubart, Mélodie, Ghisetti, Valeria, Aiuti, Alessandro, Jouanguy, Emmanuelle, Bastard, Paul, Percivalle, Elena, Baldanti, Fausto, Puel, Anne, Macdonald, Margaret, R, Rice, Charles, M, Rossini, Giada, Murray, Kristy, O, Simonin, Yannick, Nagy, Anna, Barzon, Luisa, Abel, Laurent, Diamond, Michael, S, Cobat, Aurélie, Zhang, Shen-Ying, Casanova, Jean-Laurent, Borghesi, Alessandro

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Pathogenesis and Control of Chronic and Emerging Infections (PCCEI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université des Antilles (UA)-Etablissement français du don du sang Montpellier -Université de Montpellier (UM), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020), ANR-22-CE15-0046,AI2D,Autoanticorps anti-interférons et maladies infectieuses associées(2022), ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-21-LIBA-0002,AAILC,Autoanticorps contre les interférons de type I chez les patients libanais hospitalisés pour COVID-19.(2021), ANR-21-RHUS-0008,COVIFERON,Covid-19 and interferons: from discovery to therapy(2021)

المصدر: ISSN: 0022-1007.

مصطلحات موضوعية: [SDV]Life Sciences [q-bio], [SDV.IMM]Life Sciences [q-bio]/Immunology, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases

الوصف: International audience ; Mosquito-borne West Nile virus (WNV) infection is benign in most individuals but can cause encephalitis in <1% of infected individuals. We show that ∼35% of patients hospitalized for WNV disease (WNVD) in six independent cohorts from the EU and USA carry auto-Abs neutralizing IFN-α and/or-ω. The prevalence of these antibodies is highest in patients with encephalitis (∼40%), and that in individuals with silent WNV infection is as low as that in the general population. The odds ratios for WNVD in individuals with these auto-Abs relative to those without them in the general population range from 19.0 (95% CI 15.0-24.0, P value <10-15) for auto-Abs neutralizing only 100 pg/ml IFN-α and/or IFN-ω to 127.4 (CI 87.1-186.4, P value <10-15) for auto-Abs neutralizing both IFN-α and IFN-ω at a concentration of 10 ng/ml. These antibodies block the protective effect of IFN-α in Vero cells infected with WNV in vitro. Auto-Abs neutralizing IFN-α and/or IFN-ω underlie ∼40% of cases of WNV encephalitis. .

العلاقة: hal-04229658; https://hal.science/hal-04229658Test; https://hal.science/hal-04229658/documentTest; https://hal.science/hal-04229658/file/JEM_20230661.pdfTest

الإتاحة: https://doi.org/10.1084/jem.20230661Test
https://hal.science/hal-04229658Test
https://hal.science/hal-04229658/documentTest
https://hal.science/hal-04229658/file/JEM_20230661.pdfTest

المؤلفون: Badenetti, Lorenzo, Manzoli, Rosa, Trevisan, Marta, D’Avanzo, Francesca, Tomanin, Rosella, Moro, Enrico

المساهمون: National MPS Society

المصدر: Scientific Reports ; volume 13, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الوصف: Multiple complex intracellular cascades contributing to Hunter syndrome (mucopolysaccharidosis type II) pathogenesis have been recognized and documented in the past years. However, the hierarchy of early cellular abnormalities leading to irreversible neuronal damage is far from being completely understood. To tackle this issue, we have generated two novel iduronate-2-sulfatase (IDS) loss of function human neuronal cell lines by means of genome editing. We show that both neuronal cell lines exhibit no enzymatic activity and increased GAG storage despite a completely different genotype. At a cellular level, they display reduced differentiation, significantly decreased LAMP1 and RAB7 protein levels, impaired lysosomal acidification and increased lipid storage. Moreover, one of the two clones is characterized by a marked decrease of the autophagic marker p62, while none of the two mutants exhibit marked oxidative stress and mitochondrial morphological changes. Based on our preliminary findings, we hypothesize that neuronal differentiation might be significantly affected by IDS functional impairment.

الإتاحة: https://doi.org/10.1038/s41598-023-37138-5Test
https://www.nature.com/articles/s41598-023-37138-5.pdfTest
https://www.nature.com/articles/s41598-023-37138-5Test

المؤلفون: Di Nisio, Andrea, Trevisan, Marta, Dall’Acqua, Stefano, Pannella, Micaela, Pappalardo, Claudia, Ferlin, Alberto, Foresta, Carlo, De Toni, Luca

المصدر: Toxicology Reports ; volume 10, page 40-44 ; ISSN 2214-7500

مصطلحات موضوعية: Health, Toxicology and Mutagenesis, Toxicology

الإتاحة: https://doi.org/10.1016/j.toxrep.2022.12.006Test
https://api.elsevier.com/content/article/PII:S221475002200230X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S221475002200230X?httpAccept=text/plainTest

المؤلفون: Celegato, Marta, Sturlese, Mattia, Vasconcelos Costa, Vivian, Trevisan, Marta, Lallo Dias, Angélica Samer, Souza Passos, Ingredy Beatriz, Queiroz-Junior, Celso Martins, Messa, Lorenzo, Favaro, Annagiulia, Moro, Stefano, Teixeira, Mauro Martins, Loregian, Arianna, Mercorelli, Beatrice

المساهمون: Shresta, Sujan, Diamond, Michael S., University of Padua, INCT dengue MCT/CN, EU Funding within the MUR PNRR Extended Partnership Initiative on Emerging Infectious Diseases, Associazione Italiana per la Ricerca sul Cancro, Fondazione Cassa di Risparmio di Padova e Rovigo

المصدر: mBio ; volume 14, issue 1 ; ISSN 2150-7511

الوصف: More than one-third of the human population is at risk of infection by different mosquito-borne flaviviruses. Despite this, no specific antiviral drug is currently available.

الإتاحة: https://doi.org/10.1128/mbio.03097-22Test

المؤلفون: Lavezzo, Enrico, Franchin, Elisa, Ciavarella, Constanze, Cuomo-Dannenburg, Gina, Barzon, Luisa, Del Vecchio, Claudia, Rossi, Lucia, Manganelli, Riccardo, Loregian, Arianna, Navarin, Nicolò, Abate, Davide, Sciro, Manuela, Merigliano, Stefano, De Canale, Ettore, Vanuzzo, Maria Cristina, Besutti, Valeria, Saluzzo, Francesca, Onelia, Francesco, Pacenti, Monia, Parisi, Saverio G., Carretta, Giovanni, Donato, Daniele, Flor, Luciano, Cocchio, Silvia, Masi, Giulia, Sperduti, Alessandro, Cattarino, Lorenzo, Salvador, Renato, Nicoletti, Michele, Caldart, Federico, Castelli, Gioele, Nieddu, Eleonora, Labella, Beatrice, Fava, Ludovico, Drigo, Matteo, Gaythorpe, Katy A. M., Brazzale, Alessandra R., Toppo, Stefano, Trevisan, Marta, Baldo, Vincenzo, Donnelly, Christl A., Ferguson, Neil M., Dorigatti, Ilaria, Crisanti, Andrea

المصدر: Nature ; volume 590, issue 7844, page E11-E11 ; ISSN 0028-0836 1476-4687

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41586-020-2956-7Test
http://www.nature.com/articles/s41586-020-2956-7.pdfTest
http://www.nature.com/articles/s41586-020-2956-7Test

المؤلفون: Di Iorio, Enzo, Barbaro, Vanessa, Alvisi, Gualtiero, Trevisan, Marta, Ferrari, Stefano, Masi, Giulia, Nespeca, Patrizia, Ghassabian, Hanieh, Ponzin, Diego, Palù, Giorgio

المساهمون: Di Iorio, Enzo, Barbaro, Vanessa, Alvisi, Gualtiero, Trevisan, Marta, Ferrari, Stefano, Masi, Giulia, Nespeca, Patrizia, Ghassabian, Hanieh, Ponzin, Diego, Palù, Giorgio

مصطلحات موضوعية: corneal disease, corneal neovascularization, corneal transplantation, gene therapy, non-viral vector, viral vectors

الوصف: Corneal diseases are among the most prevalent causes of blindness worldwide. The transparency and clarity of the cornea are guaranteed by a delicate physiological, anatomic, and functional balance. For this reason, all the disorders, including those of genetic origin, that compromise this state of harmony can lead to opacity and eventually vision loss. Many corneal disorders have a genetic etiology, and some are associated with rather rare and complex syndromes. Conventional treatments, such as corneal transplantation, are often ineffective, and to date, many of these disorders are still incurable. Gene therapy carries the promise of being a potential cure for many of these diseases, with solutions and strategies that did not seem possible until a few years ago. With its potential to treat genetic disease by means of deletion, replacement, or editing of a defective gene, the challenge can also be extended to corneal disorders in order to achieve long-term, if not definitive, relief. The aim of this paper is to review the state of the art of the different gene therapy approaches as potential treatments for corneal diseases and the future perspectives for the development of personalized gene-based medicine.

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31020856; info:eu-repo/semantics/altIdentifier/wos/WOS:000469517900001; journal:HUMAN GENE THERAPY; http://hdl.handle.net/11577/3316100Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070807914

الإتاحة: https://doi.org/10.1089/hum.2019.026Test
http://hdl.handle.net/11577/3316100Test

المؤلفون: Lavezzo, Enrico, Franchin, Elisa, Ciavarella, Constanze, Cuomo-Dannenburg, Gina, Barzon, Luisa, Del Vecchio, Claudia, Rossi, Lucia, Manganelli, Riccardo, Loregian, Arianna, Navarin, Nicolò, Abate, Davide, Sciro, Manuela, Merigliano, Stefano, De Canale, Ettore, Vanuzzo, Maria Cristina, Besutti, Valeria, Saluzzo, Francesca, Onelia, Francesco, Pacenti, Monia, Parisi, Saverio, Carretta, Giovanni, Donato, Daniele, Flor, Luciano, Cocchio, Silvia, Masi, Giulia, Sperduti, Alessandro, Cattarino, Lorenzo, Salvador, Renato, Nicoletti, Michele, Caldart, Federico, Castelli, Gioele, Nieddu, Eleonora, Labella, Beatrice, Fava, Ludovico, Drigo, Matteo, Gaythorpe, Katy A. M., Brazzale, Alessandra R., Toppo, Stefano, Trevisan, Marta, Baldo, Vincenzo, Donnelly, Christl A., Ferguson, Neil M., Dorigatti, Ilaria, Crisanti, Andrea

المصدر: reponame:Expeditio Repositorio Institucional UJTL ; instname:Universidad de Bogotá Jorge Tadeo Lozano

مصطلحات موضوعية: SARS-CoV-2 -- Italia, Síndrome respiratorio agudo grave, COVID-19, SARS-CoV-2, Coronavirus, SARS-CoV-2 -- Italy

الوصف: On 21 February 2020, a resident of the municipality of Vo’, a small town near Padua (Italy), died of pneumonia due to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection1. This was the first COVID-19 death detected in Italy since the detection of SARS-CoV-2 in the Chinese city of Wuhan, Hubei province2. In response, the regional authorities imposed the lockdown of the whole municipality for 14 days3. We collected information on the demography, clinical presentation, hospitalization, contact network and the presence of SARS-CoV-2 infection in nasopharyngeal swabs for 85.9% and 71.5% of the population of Vo’ at two consecutive time points. From the first survey, which was conducted around the time the town lockdown started, we found a prevalence of infection of 2.6% (95% confidence interval (CI): 2.1–3.3%). From the second survey, which was conducted at the end of the lockdown, we found a prevalence of 1.2% (95% CI: 0.8–1.8%). Notably, 42.5% (95% CI: 31.5–54.6%) of the confirmed SARS-CoV-2 infections detected across the two surveys were asymptomatic (that is, did not have symptoms at the time of swab testing and did not develop symptoms afterwards). The mean serial interval was 7.2 days (95% CI: 5.9–9.6). We found no statistically significant difference in the viral load of symptomatic versus asymptomatic infections (P = 0.62 and 0.74 for E and RdRp genes, respectively, exact Wilcoxon–Mann–Whitney test). This study sheds new light on the frequency of asymptomatic SARS-CoV-2 infection, their infectivity (as measured by the viral load) and provides new insights into its transmission dynamics and the efficacy of the implemented control measures.

وصف الملف: 23 páginas; application/pdf

العلاقة: https://www.nature.com/articles/s41586-020-2488-1Test; http://hdl.handle.net/20.500.12010/10940Test; https://doi.org/10.1038/s41586-020-2488-1Test

الإتاحة: https://doi.org/20.500.12010/10940Test
https://doi.org/10.1038/s41586-020-2488-1Test
https://hdl.handle.net/20.500.12010/10940Test
https://www.nature.com/articles/s41586-020-2488-1Test

المؤلفون: Angeloni, Giorgia, Bertola, Michela, Lazzaro, Elena, Morini, Matteo, Masi, Giulia, Sinigaglia, Alessandro, Trevisan, Marta, Gossner, Céline M., Haussig, Joana M., Bakonyi, Tamas, Capelli, Gioia, Barzon, Luisa

المصدر: Eurosurveillance (15607917); 8/17/2023, Vol. 28 Issue 33, p2-10, 9p