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448 results on '"Cereda, Cristina"'

1. Breast cancer patient-derived organoids for the investigation of patient-specific tumour evolution

Author

Mazzucchelli, Serena, Signati, Lorena, Messa, Letizia, Franceschini, Alma, Bonizzi, Arianna, Castagnoli, Lorenzo, Gasparini, Patrizia, Consolandi, Clarissa, Mangano, Eleonora, Pelucchi, Paride, Cifola, Ingrid, Camboni, Tania, Severgnini, Marco, Villani, Laura, Tagliaferri, Barbara, Carelli, Stephana, Pupa, Serenella M., Cereda, Cristina, and Corsi, Fabio

Published
2024
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2. Long-term cytokine profile in multisystem inflammatory disease among children

Author

Calcaterra, Valeria, Loretelli, Cristian, Biganzoli, Davide, Abdelsalam, Ahmed, Marano, Giuseppe, Carelli, Stephana, Fiori, Laura, Mannarino, Savina, D’Auria, Enza, Verduci, Elvira, De Santis, Raffaella, Dilillo, Dario, Fabiano, Valentina, Carlucci, Patrizia, Maghraby, Erika, Messa, Letizia, Cereda, Cristina, Fiorina, Paolo, Biganzoli, Elia, and Zuccotti, Gianvincenzo

Published
2024
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3. Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

Author

Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, Cortese, Andrea, Cereda, Cristina, Bugiardini, Enrico, Cardani, Rosanna, Meola, Giovanni, Ripolone, Michela, Moggio, Maurizio, Romano, Maurizio, Secrier, Maria, Fratta, Pietro, and Buratti, Emanuele

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Biological Sciences, Neurodegenerative, Brain Disorders, Acquired Cognitive Impairment, Neurosciences, Frontotemporal Dementia (FTD), Rare Diseases, Genetics, Dementia, 2.1 Biological and endogenous factors, Underpinning research, 1.1 Normal biological development and functioning, Aetiology, Neurological, Amyotrophic Lateral Sclerosis, Animals, DNA-Binding Proteins, Frontotemporal Dementia, Humans, Mice, Muscles, RNA Splicing, NYGC ALS Consortium, Biological sciences, Biomedical and clinical sciences
Abstract

TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As TDP-43 inclusions have recently been described in the muscle of inclusion body myositis patients, this highlights the need to understand the role of TDP-43 beyond the central nervous system. Using RNA-seq, we directly compare TDP-43-mediated RNA processing in muscle (C2C12) and neuronal (NSC34) mouse cells. TDP-43 displays a cell-type-characteristic behaviour targeting unique transcripts in each cell-type, which is due to characteristic expression of RNA-binding proteins, that influence TDP-43's performance and define cell-type specific splicing. Among splicing events commonly dysregulated in both cell lines, we identify some that are TDP-43-dependent also in human cells. Inclusion levels of these alternative exons are altered in tissues of patients suffering from FTLD and IBM. We therefore propose that TDP-43 dysfunction contributes to disease development either in a common or a tissue-specific manner.

Published
2022

5. ALDOC- and ENO2- driven glucose metabolism sustains 3D tumor spheroids growth regardless of nutrient environmental conditions: a multi-omics analysis

Author

De Vitis, Claudia, Battaglia, Anna Martina, Pallocca, Matteo, Santamaria, Gianluca, Mimmi, Maria Chiara, Sacco, Alessandro, De Nicola, Francesca, Gaspari, Marco, Salvati, Valentina, Ascenzi, Francesca, Bruschini, Sara, Esposito, Antonella, Ricci, Giulia, Sperandio, Eleonora, Massacci, Alice, Prestagiacomo, Licia Elvira, Vecchione, Andrea, Ricci, Alberto, Sciacchitano, Salvatore, Salerno, Gerardo, French, Deborah, Aversa, Ilenia, Cereda, Cristina, Fanciulli, Maurizio, Chiaradonna, Ferdinando, Solito, Egle, Cuda, Giovanni, Costanzo, Francesco, Ciliberto, Gennaro, Mancini, Rita, and Biamonte, Flavia

Published
2023
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6. Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Author

van Rheenen, Wouter, van der Spek, Rick AA, Bakker, Mark K, van Vugt, Joke JFA, Hop, Paul J, Zwamborn, Ramona AJ, de Klein, Niek, Westra, Harm-Jan, Bakker, Olivier B, Deelen, Patrick, Shireby, Gemma, Hannon, Eilis, Moisse, Matthieu, Baird, Denis, Restuadi, Restuadi, Dolzhenko, Egor, Dekker, Annelot M, Gawor, Klara, Westeneng, Henk-Jan, Tazelaar, Gijs HP, van Eijk, Kristel R, Kooyman, Maarten, Byrne, Ross P, Doherty, Mark, Heverin, Mark, Al Khleifat, Ahmad, Iacoangeli, Alfredo, Shatunov, Aleksey, Ticozzi, Nicola, Cooper-Knock, Johnathan, Smith, Bradley N, Gromicho, Marta, Chandran, Siddharthan, Pal, Suvankar, Morrison, Karen E, Shaw, Pamela J, Hardy, John, Orrell, Richard W, Sendtner, Michael, Meyer, Thomas, Başak, Nazli, van der Kooi, Anneke J, Ratti, Antonia, Fogh, Isabella, Gellera, Cinzia, Lauria, Giuseppe, Corti, Stefania, Cereda, Cristina, Sproviero, Daisy, D’Alfonso, Sandra, Sorarù, Gianni, Siciliano, Gabriele, Filosto, Massimiliano, Padovani, Alessandro, Chiò, Adriano, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Canosa, Antonio, Grassano, Maurizio, Beghi, Ettore, Pupillo, Elisabetta, Logroscino, Giancarlo, Nefussy, Beatrice, Osmanovic, Alma, Nordin, Angelica, Lerner, Yossef, Zabari, Michal, Gotkine, Marc, Baloh, Robert H, Bell, Shaughn, Vourc’h, Patrick, Corcia, Philippe, Couratier, Philippe, Millecamps, Stéphanie, Meininger, Vincent, Salachas, François, Mora Pardina, Jesus S, Assialioui, Abdelilah, Rojas-García, Ricardo, Dion, Patrick A, Ross, Jay P, Ludolph, Albert C, Weishaupt, Jochen H, Brenner, David, Freischmidt, Axel, Bensimon, Gilbert, Brice, Alexis, Durr, Alexandra, Payan, Christine AM, Saker-Delye, Safa, Wood, Nicholas W, Topp, Simon, Rademakers, Rosa, Tittmann, Lukas, Lieb, Wolfgang, Franke, Andre, Ripke, Stephan, Braun, Alice, and Kraft, Julia

Subjects
Human Genome, Neurodegenerative, Clinical Research, Rare Diseases, Prevention, ALS, Neurosciences, Genetics, Brain Disorders, Aetiology, 2.1 Biological and endogenous factors, Neurological, Amyotrophic Lateral Sclerosis, Brain, Cholesterol, Disease Progression, Female, Genome-Wide Association Study, Glutamine, Humans, Male, Mendelian Randomization Analysis, Microsatellite Repeats, Mutation, Neurodegenerative Diseases, Neurons, Quantitative Trait Loci, RNA-Seq, Risk Factors, SLALOM Consortium, PARALS Consortium, SLAGEN Consortium, SLAP Consortium, Biological Sciences, Medical and Health Sciences, Developmental Biology
Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and 122,656 controls, which identified 15 risk loci. When combined with 8,953 individuals with whole-genome sequencing (6,538 patients, 2,415 controls) and a large cortex-derived expression quantitative trait locus (eQTL) dataset (MetaBrain), analyses revealed locus-specific genetic architectures in which we prioritized genes either through rare variants, short tandem repeats or regulatory effects. ALS-associated risk loci were shared with multiple traits within the neurodegenerative spectrum but with distinct enrichment patterns across brain regions and cell types. Of the environmental and lifestyle risk factors obtained from the literature, Mendelian randomization analyses indicated a causal role for high cholesterol levels. The combination of all ALS-associated signals reveals a role for perturbations in vesicle-mediated transport and autophagy and provides evidence for cell-autonomous disease initiation in glutamatergic neurons.

Published
2021

8. Production of an induced pluripotent stem cell line CSSi018-A (14192) from a patient with hypomyelinating leukodystrophy 7 (HLD7) carrying biallelic variants of POLR3A (c.1802 T > A; c.4072G > A)

Author

Casamassa, Alessia, primary, Rotundo, Giovannina, additional, Ceresoni, Chiara, additional, Turco, Elisa Maria, additional, Torrente, Isabella, additional, Candido, Ornella, additional, Nicita, Francesco, additional, Tonduti, Davide, additional, Bertini, Enrico, additional, Marano, Massimo, additional, Ferrari, Daniela, additional, Cereda, Cristina, additional, Pennuto, Maria, additional, Vescovi, Angelo Luigi, additional, Carelli, Stephana, additional, and Rosati, Jessica, additional

Published
2024
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11. Functional analysis and transcriptome profile of meninges and skin fibroblasts from human‐aged donors.

Author

Fantini, Valentina, Ferrari, Riccardo Rocco, Bordoni, Matteo, Spampinato, Eleonora, Pandini, Cecilia, Davin, Annalisa, Medici, Valentina, Gagliardi, Stella, Guaita, Antonio, Pansarasa, Orietta, Cereda, Cristina, and Poloni, Tino Emanuele

Subjects
RNA sequencing, CYCLIC adenylic acid, CENTRAL nervous system, NEURAL crest, BINDING agents
Abstract

The central nervous system (CNS) is surrounded by three membranes called meninges. Specialised fibroblasts, originating from the mesoderm and neural crest, primarily populate the meninges and serve as a binding agent. Our goal was to compare fibroblasts from meninges and skin obtained from the same human‐aged donors, exploring their molecular and cellular characteristics related to CNS functions. We isolated meningeal fibroblasts (MFs) from brain donors and skin fibroblasts (SFs) from the same subjects. A functional analysis was performed measuring cell appearance, metabolic activity, and cellular orientation. We examined fibronectin, serpin H1, β‐III‐tubulin, and nestin through qPCR and immunofluorescence. A whole transcriptome analysis was also performed to characterise the gene expression of MFs and SFs. MFs appeared more rapidly in the post‐tissue processing, while SFs showed an elevated cellular metabolism and a well‐defined cellular orientation. The four markers were mostly similar between the MFs and SFs, except for nestin, more expressed in MFs. Transcriptome analysis reveals significant differences, particularly in cyclic adenosine monophosphate (cAMP) metabolism and response to forskolin, both of which are upregulated in MFs. This study highlights MFs' unique characteristics, including the timing of appearance, metabolic activity, and gene expression patterns, particularly in cAMP metabolism and response to forskolin. These findings contribute to a deeper understanding of non‐neuronal cells' involvement in CNS activities and potentially open avenues for therapeutic exploration. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

Author

Nicolas, Aude, Kenna, Kevin P, Renton, Alan E, Ticozzi, Nicola, Faghri, Faraz, Chia, Ruth, Dominov, Janice A, Kenna, Brendan J, Nalls, Mike A, Keagle, Pamela, Rivera, Alberto M, van Rheenen, Wouter, Murphy, Natalie A, van Vugt, Joke JFA, Geiger, Joshua T, Van der Spek, Rick A, Pliner, Hannah A, Shankaracharya, Smith, Bradley N, Marangi, Giuseppe, Topp, Simon D, Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D, Kenna, Aoife, ITALSGEN Consortium, Mora, Gabriele, Calvo, Andrea, Mazzini, Letizia, Riva, Nilo, Mandrioli, Jessica, Caponnetto, Claudia, Battistini, Stefania, Volanti, Paolo, La Bella, Vincenzo, Conforti, Francesca L, Borghero, Giuseppe, Messina, Sonia, Simone, Isabella L, Trojsi, Francesca, Salvi, Fabrizio, Logullo, Francesco O, D'Alfonso, Sandra, Corrado, Lucia, Capasso, Margherita, Ferrucci, Luigi, Genomic Translation for ALS Care (GTAC) Consortium, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Goldstein, David B, ALS Sequencing Consortium, Gitler, Aaron D, Harris, Tim, Myers, Richard M, NYGC ALS Consortium, Phatnani, Hemali, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C, Answer ALS Foundation, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia K, LeNail, Alex, Lima, Leandro, Fraenkel, Ernest, Svendsen, Clive N, Thompson, Leslie M, Van Eyk, Jennifer E, Berry, James D, Miller, Timothy M, Kolb, Stephen J, Cudkowicz, Merit, Baxi, Emily, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, Benatar, Michael, Taylor, J Paul, Rampersaud, Evadnie, Wu, Gang, Wuu, Joanne, SLAGEN Consortium, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P, Sorarù, Gianni, Cereda, Cristina, French ALS Consortium, Corcia, Philippe, Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, and Orrell, Richard W

Subjects
ITALSGEN Consortium, Genomic Translation for ALS Care (GTAC) Consortium, ALS Sequencing Consortium, NYGC ALS Consortium, Answer ALS Foundation, Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium, SLAGEN Consortium, French ALS Consortium, Project MinE ALS Sequencing Consortium, Humans, Amyotrophic Lateral Sclerosis, Cohort Studies, Amino Acid Sequence, Adult, Aged, Aged, 80 and over, Middle Aged, Female, Male, Genome-Wide Association Study, Young Adult, Loss of Function Mutation, Kinesins, ALS, GWAS, KIF5A, WES, WGS, axonal transport, cargo, Brain Disorders, Genetics, Human Genome, Rare Diseases, Neurosciences, Neurodegenerative, Aetiology, 2.1 Biological and endogenous factors, Neurological, Psychology, Cognitive Sciences, Neurology & Neurosurgery
Abstract

To identify novel genes associated with ALS, we undertook two lines of investigation. We carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls. Independently, we performed a rare variant burden analysis comparing 1,138 index familial ALS cases and 19,494 controls. Through both approaches, we identified kinesin family member 5A (KIF5A) as a novel gene associated with ALS. Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). In contrast, ALS-associated mutations are primarily located at the C-terminal cargo-binding tail domain and patients harboring loss-of-function mutations displayed an extended survival relative to typical ALS cases. Taken together, these results broaden the phenotype spectrum resulting from mutations in KIF5A and strengthen the role of cytoskeletal defects in the pathogenesis of ALS.

Published
2018

14. Activated Human Adipose Tissue Transplantation Promotes Sensorimotor Recovery after Acute Spinal Cord Contusion in Rats

Author

Bonnet, Maxime, primary, Ertlen, Céline, additional, Seblani, Mostafa, additional, Brezun, Jean-Michel, additional, Coyle, Thelma, additional, Cereda, Cristina, additional, Zuccotti, Gianvincenzo, additional, Colli, Mattia, additional, Desouches, Christophe, additional, Decherchi, Patrick, additional, Carelli, Stephana, additional, and Marqueste, Tanguy, additional

Published
2024
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15. Prevalence and prognostic value of Delirium as the initial presentation of COVID-19 in the elderly with dementia: An Italian retrospective study

Author

Poloni, Tino Emanuele, Carlos, Arenn Faye, Cairati, Marco, Cutaia, Chiara, Medici, Valentina, Marelli, Eleonora, Ferrari, Danila, Galli, Alberto, Bognetti, Paola, Davin, Annalisa, Cirrincione, Alice, Ceretti, Arcangelo, Cereda, Cristina, Ceroni, Mauro, Tronconi, Livio, Vitali, Silvia, and Guaita, Antonio

Published
2020
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19. 3D photopolymerized microstructured scaffolds influence nuclear deformation, nucleo/cytoskeletal protein organization, and gene regulation in mesenchymal stem cells

Author

Donnaloja, Francesca, primary, Raimondi, Manuela Teresa, additional, Messa, Letizia, additional, Barzaghini, Bianca, additional, Carnevali, Federica, additional, Colombo, Emanuele, additional, Mazza, Davide, additional, Martinelli, Chiara, additional, Boeri, Lucia, additional, Rey, Federica, additional, Cereda, Cristina, additional, Osellame, Roberto, additional, Cerullo, Giulio, additional, Carelli, Stephana, additional, Soncini, Monica, additional, and Jacchetti, Emanuela, additional

Published
2023
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21. Genome-wide Analyses Identify KIF5A as a Novel ALS Gene

Author

Logullo, Francesco O., Simone, Isabella, Logroscino, Giancarlo, Salvi, Fabrizio, Bartolomei, Ilaria, Borghero, Giuseppe, Murru, Maria Rita, Costantino, Emanuela, Pani, Carla, Puddu, Roberta, Caredda, Carla, Piras, Valeria, Tranquilli, Stefania, Cuccu, Stefania, Corongiu, Daniela, Melis, Maurizio, Milia, Antonio, Marrosu, Francesco, Marrosu, Maria Giovanna, Floris, Gianluca, Cannas, Antonino, Capasso, Margherita, Caponnetto, Claudia, Mancardi, Gianluigi, Origone, Paola, Mandich, Paola, Conforti, Francesca L., Cavallaro, Sebastiano, Mora, Gabriele, Marinou, Kalliopi, Sideri, Riccardo, Penco, Silvana, Mosca, Lorena, Lunetta, Christian, Pinter, Giuseppe Lauria, Corbo, Massimo, Riva, Nilo, Carrera, Paola, Volanti, Paolo, Mandrioli, Jessica, Fini, Nicola, Fasano, Antonio, Tremolizzo, Lucio, Arosio, Alessandro, Ferrarese, Carlo, Trojsi, Francesca, Tedeschi, Gioacchino, Monsurrò, Maria Rosaria, Piccirillo, Giovanni, Femiano, Cinzia, Ticca, Anna, Ortu, Enzo, La Bella, Vincenzo, Spataro, Rossella, Colletti, Tiziana, Sabatelli, Mario, Zollino, Marcella, Conte, Amelia, Luigetti, Marco, Lattante, Serena, Marangi, Giuseppe, Santarelli, Marialuisa, Petrucci, Antonio, Pugliatti, Maura, Pirisi, Angelo, Parish, Leslie D., Occhineri, Patrizia, Giannini, Fabio, Battistini, Stefania, Ricci, Claudia, Benigni, Michele, Cau, Tea B., Loi, Daniela, Calvo, Andrea, Moglia, Cristina, Brunetti, Maura, Barberis, Marco, Restagno, Gabriella, Casale, Federico, Marrali, Giuseppe, Fuda, Giuseppe, Ossola, Irene, Cammarosano, Stefania, Canosa, Antonio, Ilardi, Antonio, Manera, Umberto, Grassano, Maurizio, Tanel, Raffaella, Pisano, Fabrizio, Harms, Matthew B., Goldstein, David B., Shneider, Neil A., Goutman, Stephen, Simmons, Zachary, Miller, Timothy M., Chandran, Siddharthan, Pal, Suvankar, Manousakis, Georgios, Appel, Stanley H., Simpson, Ericka, Wang, Leo, Baloh, Robert H., Gibson, Summer, Bedlack, Richard, Lacomis, David, Sareen, Dhruv, Sherman, Alexander, Bruijn, Lucie, Penny, Michelle, Allen, Andrew S., Appel, Stanley, Bedlack, Richard S., Boone, Braden E., Brown, Robert, Carulli, John P., Chesi, Alessandra, Chung, Wendy K., Cirulli, Elizabeth T., Cooper, Gregory M., Couthouis, Julien, Day-Williams, Aaron G., Dion, Patrick A., Gitler, Aaron D., Glass, Jonathan D., Han, Yujun, Harris, Tim, Hayes, Sebastian D., Jones, Angela L., Keebler, Jonathan, Krueger, Brian J., Lasseigne, Brittany N., Levy, Shawn E., Lu, Yi-Fan, Maniatis, Tom, McKenna-Yasek, Diane, Myers, Richard M., Petrovski, Slavé, Pulst, Stefan M., Raphael, Alya R., Ravits, John M., Ren, Zhong, Rouleau, Guy A., Sapp, Peter C., Sims, Katherine B., Staropoli, John F., Waite, Lindsay L., Wang, Quanli, Wimbish, Jack R., Xin, Winnie W., Phatnani, Hemali, Kwan, Justin, Broach, James R., Arcila-Londono, Ximena, Lee, Edward B., Van Deerlin, Vivianna M., Fraenkel, Ernest, Ostrow, Lyle W., Baas, Frank, Zaitlen, Noah, Berry, James D., Malaspina, Andrea, Fratta, Pietro, Cox, Gregory A., Thompson, Leslie M., Finkbeiner, Steve, Dardiotis, Efthimios, Hornstein, Eran, MacGowan, Daniel J., Heiman-Patterson, Terry, Hammell, Molly G., Patsopoulos, Nikolaos A., Dubnau, Joshua, Nath, Avindra, Kaye, Julia, Finkbeiner, Steven, Wyman, Stacia, LeNail, Alexander, Lima, Leandro, Rothstein, Jeffrey D., Svendsen, Clive N., Van Eyk, Jenny, Maragakis, Nicholas J., Kolb, Stephen J., Cudkowicz, Merit, Baxi, Emily, Benatar, Michael, Taylor, J. Paul, Wu, Gang, Rampersaud, Evadnie, Wuu, Joanne, Rademakers, Rosa, Züchner, Stephan, Schule, Rebecca, McCauley, Jacob, Hussain, Sumaira, Cooley, Anne, Wallace, Marielle, Clayman, Christine, Barohn, Richard, Statland, Jeffrey, Ravits, John, Swenson, Andrea, Jackson, Carlayne, Trivedi, Jaya, Khan, Shaida, Katz, Jonathan, Jenkins, Liberty, Burns, Ted, Gwathmey, Kelly, Caress, James, McMillan, Corey, Elman, Lauren, Pioro, Erik, Heckmann, Jeannine, So, Yuen, Walk, David, Maiser, Samuel, Zhang, Jinghui, Silani, Vincenzo, Ticozzi, Nicola, Gellera, Cinzia, Ratti, Antonia, Taroni, Franco, Lauria, Giuseppe, Verde, Federico, Fogh, Isabella, Tiloca, Cinzia, Comi, Giacomo P., Sorarù, Gianni, Cereda, Cristina, D’Alfonso, Sandra, Corrado, Lucia, De Marchi, Fabiola, Corti, Stefania, Ceroni, Mauro, Mazzini, Letizia, Siciliano, Gabriele, Filosto, Massimiliano, Inghilleri, Maurizio, Peverelli, Silvia, Colombrita, Claudia, Poletti, Barbara, Maderna, Luca, Del Bo, Roberto, Gagliardi, Stella, Querin, Giorgia, Bertolin, Cinzia, Pensato, Viviana, Castellotti, Barbara, Camu, William, Mouzat, Kevin, Lumbroso, Serge, Corcia, Philippe, Meininger, Vincent, Besson, Gérard, Lagrange, Emmeline, Clavelou, Pierre, Guy, Nathalie, Couratier, Philippe, Vourch, Patrick, Danel, Véronique, Bernard, Emilien, Lemasson, Gwendal, Al Kheifat, Ahmad, Al-Chalabi, Ammar, Andersen, Peter, Basak, A. Nazli, Blair, Ian P., Chio, Adriano, Cooper-Knock, Jonathan, de Carvalho, Mamede, Dekker, Annelot, Drory, Vivian, Redondo, Alberto Garcia, Gotkine, Marc, Hardiman, Orla, Hide, Winston, Iacoangeli, Alfredo, Glass, Jonathan, Kenna, Kevin, Kiernan, Matthew, Kooyman, Maarten, Landers, John, McLaughlin, Russell, Middelkoop, Bas, Mill, Jonathan, Neto, Miguel Mitne, Moisse, Mattieu, Pardina, Jesus Mora, Morrison, Karen, Newhouse, Stephen, Pinto, Susana, Pulit, Sara, Robberecht, Wim, Shatunov, Aleksey, Shaw, Pamela, Shaw, Chris, Sproviero, William, Tazelaar, Gijs, van Damme, Philip, van den Berg, Leonard, van der Spek, Rick, van Eijk, Kristel, van Es, Michael, van Rheenen, Wouter, van Vugt, Joke, Veldink, Jan, Weber, Markus, Williams, Kelly L., Zatz, Mayana, Bauer, Denis C., Twine, Natalie A., Nicolas, Aude, Kenna, Kevin P., Renton, Alan E., Faghri, Faraz, Chia, Ruth, Dominov, Janice A., Kenna, Brendan J., Nalls, Mike A., Keagle, Pamela, Rivera, Alberto M., Murphy, Natalie A., van Vugt, Joke J.F.A., Geiger, Joshua T., Van der Spek, Rick A., Pliner, Hannah A., Shankaracharya, Smith, Bradley N., Topp, Simon D., Abramzon, Yevgeniya, Gkazi, Athina Soragia, Eicher, John D., Kenna, Aoife, Messina, Sonia, Simone, Isabella L., Ferrucci, Luigi, Moreno, Cristiane de Araujo Martins, Kamalakaran, Sitharthan, Musunuri, Rajeeva Lochan, Evani, Uday Shankar, Abhyankar, Avinash, Zody, Michael C., Wyman, Stacia K., LeNail, Alex, Van Eyk, Jennifer E., Laaksovirta, Hannu, Myllykangas, Liisa, Jansson, Lilja, Valori, Miko, Ealing, John, Hamdalla, Hisham, Rollinson, Sara, Pickering-Brown, Stuart, Orrell, Richard W., Sidle, Katie C., Hardy, John, Singleton, Andrew B., Johnson, Janel O., Arepalli, Sampath, Polak, Meraida, Asress, Seneshaw, Al-Sarraj, Safa, King, Andrew, Troakes, Claire, Vance, Caroline, de Belleroche, Jacqueline, ten Asbroek, Anneloor L.M.A., Muñoz-Blanco, José Luis, Hernandez, Dena G., Ding, Jinhui, Gibbs, J. Raphael, Scholz, Sonja W., Floeter, Mary Kay, Campbell, Roy H., Landi, Francesco, Bowser, Robert, MacGowan, Daniel J.L., Kirby, Janine, Pioro, Erik P., Pamphlett, Roger, Broach, James, Gerhard, Glenn, Dunckley, Travis L., Brady, Christopher B., Kowall, Neil W., Troncoso, Juan C., Le Ber, Isabelle, Heiman-Patterson, Terry D., Kamel, Freya, Van Den Bosch, Ludo, Strom, Tim M., Meitinger, Thomas, Van Eijk, Kristel R., Moisse, Matthieu, McLaughlin, Russell L., Van Es, Michael A., Boylan, Kevin B., Van Blitterswijk, Marka, Morrison, Karen E., Mora, Jesús S., Drory, Vivian E., Shaw, Pamela J., Turner, Martin R., Talbot, Kevin, Fifita, Jennifer A., Nicholson, Garth A., Esteban-Pérez, Jesús, García-Redondo, Alberto, Rogaeva, Ekaterina, Zinman, Lorne, Cooper-Knock, Johnathan, Brice, Alexis, Goutman, Stephen A., Feldman, Eva L., Gibson, Summer B., Van Damme, Philip, Ludolph, Albert C., Andersen, Peter M., Weishaupt, Jochen H., Trojanowski, John Q., Brown, Robert H., Jr., van den Berg, Leonard H., Veldink, Jan H., Stone, David J., Tienari, Pentti, Chiò, Adriano, Shaw, Christopher E., Traynor, Bryan J., and Landers, John E.

Published
2018
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24. Redox Imbalance in Neurological Disorders in Adults and Children

Author

Rey, Federica, primary, Berardo, Clarissa, additional, Maghraby, Erika, additional, Mauri, Alessia, additional, Messa, Letizia, additional, Esposito, Letizia, additional, Casili, Giovanna, additional, Ottolenghi, Sara, additional, Bonaventura, Eleonora, additional, Cuzzocrea, Salvatore, additional, Zuccotti, Gianvincenzo, additional, Tonduti, Davide, additional, Esposito, Emanuela, additional, Paterniti, Irene, additional, Cereda, Cristina, additional, and Carelli, Stephana, additional

Published
2023
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25. Subcutaneous Adipose Tissue Transcriptome Highlights Specific Expression Profiles in Severe Pediatric Obesity: A Pilot Study

Author

Berardo, Clarissa, primary, Calcaterra, Valeria, additional, Mauri, Alessia, additional, Carelli, Stephana, additional, Messa, Letizia, additional, Destro, Francesca, additional, Rey, Federica, additional, Cordaro, Erika, additional, Pelizzo, Gloria, additional, Zuccotti, Gianvincenzo, additional, and Cereda, Cristina, additional

Published
2023
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27. Menkes disease complicated by concurrent ACY1 deficiency: A case report

Author

Mauri, Alessia, primary, Saielli, Laura Assunta, additional, Alfei, Enrico, additional, Iascone, Maria, additional, Marchetti, Daniela, additional, Cattaneo, Elisa, additional, Di Lauro, Anna, additional, Antonelli, Laura, additional, Alberti, Luisella, additional, Bonaventura, Eleonora, additional, Veggiotti, Pierangelo, additional, Spaccini, Luigina, additional, and Cereda, Cristina, additional

Published
2023
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30. Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis

Author

Galli, Jessica, Gavazzi, Francesco, De Simone, Micaela, Giliani, Silvia, Garau, Jessica, Valente, Marialuisa, Vairo, Donatella, Cattalini, Marco, Mortilla, Marzia, Andreoli, (Laura, Badolato, Raffaele, Bianchi, Marika, Carabellese, Nice, Cereda, Cristina, Ferraro, Rosalba, Facchetti, Fabio, Fredi, Micaela, Gualdi, Giulio, Lorenzi, Luisa, Meini, Antonella, Orcesi, Simona, Tincani, Angela, Zanola, Alessandra, Rice, Gillian, and Fazzi, Elisa

Published
2018
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33. The Effect of Healthy Lifestyle Strategies on the Management of Insulin Resistance in Children and Adolescents with Obesity: A Narrative Review

Author

Calcaterra, Valeria, primary, Verduci, Elvira, additional, Vandoni, Matteo, additional, Rossi, Virginia, additional, Fiore, Giulia, additional, Massini, Giulia, additional, Berardo, Clarissa, additional, Gatti, Alessandro, additional, Baldassarre, Paola, additional, Bianchi, Alice, additional, Cordaro, Erika, additional, Cavallo, Caterina, additional, Cereda, Cristina, additional, Bosetti, Alessandra, additional, and Zuccotti, Gianvincenzo, additional

Published
2022
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35. Bisdemethoxycurcumin (BDC)-Loaded H-Ferritin-Nanocages Mediate the Regulation of Inflammation in Alzheimer’s Disease Patients

Author

Gagliardi, Stella, primary, Truffi, Marta, additional, Tinelli, Veronica, additional, Garofalo, Maria, additional, Pandini, Cecilia, additional, Cotta Ramusino, Matteo, additional, Perini, Giulia, additional, Costa, Alfredo, additional, Negri, Sara, additional, Mazzucchelli, Serena, additional, Bonizzi, Arianna, additional, Sitia, Leopoldo, additional, Busacca, Maria, additional, Sevieri, Marta, additional, Mocchi, Michela, additional, Ricciardi, Alessandra, additional, Prosperi, Davide, additional, Corsi, Fabio, additional, Cereda, Cristina, additional, and Morasso, Carlo, additional

Published
2022
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36. Benefits of Physical Exercise as Approach to Prevention and Reversion of Non-Alcoholic Fatty Liver Disease in Children and Adolescents with Obesity

Author

Calcaterra, Valeria, primary, Magenes, Vittoria Carlotta, additional, Vandoni, Matteo, additional, Berardo, Clarissa, additional, Marin, Luca, additional, Bianchi, Alice, additional, Cordaro, Erika, additional, Silvestro, Giustino Simone, additional, Silvestri, Dario, additional, Carnevale Pellino, Vittoria, additional, Cereda, Cristina, additional, and Zuccotti, Gianvincenzo, additional

Published
2022
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37. Differential Neuropathology, Genetics, and Transcriptomics in Two Kindred Cases with Alzheimer’s Disease and Lewy Body Dementia

Author

Palmieri, Ilaria, primary, Poloni, Tino Emanuele, additional, Medici, Valentina, additional, Zucca, Susanna, additional, Davin, Annalisa, additional, Pansarasa, Orietta, additional, Ceroni, Mauro, additional, Tronconi, Livio, additional, Guaita, Antonio, additional, Gagliardi, Stella, additional, and Cereda, Cristina, additional

Published
2022
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38. Cell environment shapes TDP-43 function with implications in neuronal and muscle disease

Author

Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, NYGC ALS Consortium, Cortese, Andrea, Cereda, Cristina, Bugiardini, Enrico, Cardani, Rosanna, Meola, Giovanni, Ripolone, Michela, Moggio, Maurizio, Romano, Maurizio, Secrier, Maria, Fratta, Pietro, Buratti, Emanuele, Human Genetics, ARD - Amsterdam Reproduction and Development, Pathology, ANS - Cellular & Molecular Mechanisms, Šušnjar, Urša, Škrabar, Neva, Brown, Anna-Leigh, Abbassi, Yasmine, Phatnani, Hemali, Cortese, Andrea, Cereda, Cristina, Bugiardini, Enrico, Cardani, Rosanna, Meola, Giovanni, Ripolone, Michela, Moggio, Maurizio, Romano, Maurizio, Secrier, Maria, Fratta, Pietro, and Buratti, Emanuele

Subjects
DNA-Binding Protein, 1.1 Normal biological development and functioning, RNA Splicing, Medicine (miscellaneous), Neurodegenerative, General Biochemistry, Genetics and Molecular Biology, Mice, Rare Diseases, Underpinning research, mental disorders, Acquired Cognitive Impairment, Genetics, 2.1 Biological and endogenous factors, Animals, Humans, Aetiology, NYGC ALS Consortium, Animal, Muscles, Amyotrophic Lateral Sclerosis, Neurosciences, nutritional and metabolic diseases, nervous system diseases, Brain Disorders, DNA-Binding Proteins, Frontotemporal Dementia (FTD), Frontotemporal Dementia, Neurological, Muscle, Dementia, General Agricultural and Biological Sciences, Human, Amyotrophic Lateral Sclerosi
Abstract

The aetiology of the TDP-43 aggregation manifest itself in the muscle and neuronal cells. Here authors show cell-type characteristic functions of TDP43, reflected in aberrant splicing, likely contributing to disease development.TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As TDP-43 inclusions have recently been described in the muscle of inclusion body myositis patients, this highlights the need to understand the role of TDP-43 beyond the central nervous system. Using RNA-seq, we directly compare TDP-43-mediated RNA processing in muscle (C2C12) and neuronal (NSC34) mouse cells. TDP-43 displays a cell-type-characteristic behaviour targeting unique transcripts in each cell-type, which is due to characteristic expression of RNA-binding proteins, that influence TDP-43's performance and define cell-type specific splicing. Among splicing events commonly dysregulated in both cell lines, we identify some that are TDP-43-dependent also in human cells. Inclusion levels of these alternative exons are altered in tissues of patients suffering from FTLD and IBM. We therefore propose that TDP-43 dysfunction contributes to disease development either in a common or a tissue-specific manner.

Published
2021

41. The Mitogenome Relationships and Phylogeography of Barn Swallows (Hirundo rustica)

Author

Lombardo, Gianluca, primary, Rambaldi Migliore, Nicola, additional, Colombo, Giulia, additional, Capodiferro, Marco Rosario, additional, Formenti, Giulio, additional, Caprioli, Manuela, additional, Moroni, Elisabetta, additional, Caporali, Leonardo, additional, Lancioni, Hovirag, additional, Secomandi, Simona, additional, Gallo, Guido Roberto, additional, Costanzo, Alessandra, additional, Romano, Andrea, additional, Garofalo, Maria, additional, Cereda, Cristina, additional, Carelli, Valerio, additional, Gillespie, Lauren, additional, Liu, Yang, additional, Kiat, Yosef, additional, Marzal, Alfonso, additional, López-Calderón, Cosme, additional, Balbontín, Javier, additional, Mousseau, Timothy A., additional, Matyjasiak, Piotr, additional, Møller, Anders Pape, additional, Semino, Ornella, additional, Ambrosini, Roberto, additional, Bonisoli-Alquati, Andrea, additional, Rubolini, Diego, additional, Ferretti, Luca, additional, Achilli, Alessandro, additional, Gianfranceschi, Luca, additional, Olivieri, Anna, additional, and Torroni, Antonio, additional

Published
2022
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44. Lysosomes Dysfunction Causes Mitophagy Impairment in PBMCs of Sporadic ALS Patients

Author

Bordoni, Matteo, primary, Pansarasa, Orietta, additional, Scarian, Eveljn, additional, Cristofani, Riccardo, additional, Leone, Roberta, additional, Fantini, Valentina, additional, Garofalo, Maria, additional, Diamanti, Luca, additional, Bernuzzi, Stefano, additional, Gagliardi, Stella, additional, Carelli, Stephana, additional, Poletti, Angelo, additional, and Cereda, Cristina, additional

Published
2022
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45. Additional file 3 of Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases

Author

Olivotto, Sara, Duse, Alessandra, Bova, Stefania Maria, Leonardi, Valeria, Biganzoli, Elia, Milanese, Alberto, Cereda, Cristina, Bertoli, Simona, Previtali, Roberto, and Veggiotti, Pierangelo

Abstract

Additional file 3. Pearson’s correlation coefficients matrix relative to PCA performed on 9 adult patients. Description: Correlations across the 6 QoL domains are shown here. The Pearson’s correlation coefficients ranging from 0.38 up to 0.96.

Published
2022
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46. Additional file 1 of Glut1 deficiency syndrome throughout life: clinical phenotypes, intelligence, life achievements and quality of life in familial cases

Author

Olivotto, Sara, Duse, Alessandra, Bova, Stefania Maria, Leonardi, Valeria, Biganzoli, Elia, Milanese, Alberto, Cereda, Cristina, Bertoli, Simona, Previtali, Roberto, and Veggiotti, Pierangelo

Abstract

Additional file 1. Interview. Description: Ad hoc interview used to study life achievements, investigating educational aspects, employment status, autonomy, and social condition.

Published
2022
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48. Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4

Author

Rossi, Salvatore, primary, Rubegni, Anna, additional, Riso, Vittorio, additional, Barghigiani, Melissa, additional, Bassi, Maria Teresa, additional, Battini, Roberta, additional, Bertini, Enrico, additional, Cereda, Cristina, additional, Cioffi, Ettore, additional, Criscuolo, Chiara, additional, Dal Fabbro, Beatrice, additional, Dato, Clemente, additional, D'Angelo, Maria Grazia, additional, Di Muzio, Antonio, additional, Diamanti, Luca, additional, Dotti, Maria Teresa, additional, Filla, Alessandro, additional, Gioiosa, Valeria, additional, Liguori, Rocco, additional, Martinuzzi, Andrea, additional, Massa, Roberto, additional, Mignarri, Andrea, additional, Moroni, Rossana, additional, Musumeci, Olimpia, additional, Nicita, Francesco, additional, Orologio, Ilaria, additional, Orsi, Laura, additional, Pegoraro, Elena, additional, Petrucci, Antonio, additional, Plumari, Massimo, additional, Ricca, Ivana, additional, Rizzo, Giovanni, additional, Romano, Silvia, additional, Rumore, Roberto, additional, Sampaolo, Simone, additional, Scarlato, Marina, additional, Seri, Marco, additional, Stefan, Cristina, additional, Straccia, Giulia, additional, Tessa, Alessandra, additional, Travaglini, Lorena, additional, Trovato, Rosanna, additional, Ulgheri, Lucia, additional, Vazza, Giovanni, additional, Orlacchio, Antonio, additional, Silvestri, Gabriella, additional, Santorelli, Filippo Maria, additional, Melone, Mariarosa Anna Beatrice, additional, and Casali, Carlo, additional

Published
2022
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49. Extracellular Vesicles Derived From Plasma of Patients With Neurodegenerative Disease Have Common Transcriptomic Profiling

Author

Sproviero, Daisy, primary, Gagliardi, Stella, additional, Zucca, Susanna, additional, Arigoni, Maddalena, additional, Giannini, Marta, additional, Garofalo, Maria, additional, Fantini, Valentina, additional, Pansarasa, Orietta, additional, Avenali, Micol, additional, Ramusino, Matteo Cotta, additional, Diamanti, Luca, additional, Minafra, Brigida, additional, Perini, Giulia, additional, Zangaglia, Roberta, additional, Costa, Alfredo, additional, Ceroni, Mauro, additional, Calogero, Raffaele A., additional, and Cereda, Cristina, additional

Published
2022
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50. Neurodegenerative Disease-Associated TDP-43 Fragments Are Extracellularly Secreted with CASA Complex Proteins

Author

Casarotto, Elena, primary, Sproviero, Daisy, additional, Corridori, Eleonora, additional, Gagliani, Maria Cristina, additional, Cozzi, Marta, additional, Chierichetti, Marta, additional, Cristofani, Riccardo, additional, Ferrari, Veronica, additional, Galbiati, Mariarita, additional, Mina, Francesco, additional, Piccolella, Margherita, additional, Rusmini, Paola, additional, Tedesco, Barbara, additional, Gagliardi, Stella, additional, Cortese, Katia, additional, Cereda, Cristina, additional, Poletti, Angelo, additional, and Crippa, Valeria, additional

Published
2022
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