Search Results - Maria Pennuto
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Barriers in the Nervous System: Challenges and Opportunities for Novel Biomarkers in Amyotrophic Lateral Sclerosis by Lorena Pisoni, Luisa Donini, Paola Gagni, Maria Pennuto, Antonia Ratti, Federico Verde, Nicola Ticozzi, Jessica Mandrioli, Andrea Calvo, Manuela Basso
Published in Cells (2025-06-01)Get full text
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Behavioral inflexibility through overtraining is mediated by reduced mGluR1/5 signaling capacity in the dorsolateral striatum. by Vincent Paget-Blanc, Anna Cavaccini, Alessandra Longaretti, Luca Nava, Massimo Trusel, Anna Rocchi, Maria Pennuto, Elena Marcello, Fabrizio Gardoni, Barbara Greco, Raffaella Tonini
Published in PLoS Biology (2025-07-01)Get full text
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The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA) by Lorenzo Blasi, Daniele Sabbatini, Andrea Fortuna, Giorgia Querin, Ilaria Martinelli, Sara Vianello, Cinzia Bertolin, Davide Pareyson, Maria Pennuto, Elena Pegoraro, Luca Bello, Gianni Sorarù
Published in Scientific Reports (2023-10-01)Get full text
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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 > ... by Alessia Casamassa, Giovannina Rotundo, Chiara Ceresoni, Elisa Maria Turco, Isabella Torrente, Ornella Candido, Francesco Nicita, Davide Tonduti, Enrico Bertini, Massimo Marano, Daniela Ferrari, Cristina Cereda, Maria Pennuto, Angelo Luigi Vescovi, Stephana Carelli, Jessica Rosati
Published in Stem Cell Research (2024-08-01)Get full text
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Generation of the CSSi020-A (14437) iPSC line from a patient carrying a copy number variation (CNV) in the 17p11.2 chromosome region by Angela Maria Giada Giovenale, Elisa Maria Turco, Martina Mazzoni, Ilaria Ferrone, Barbara Torres, Laura Bernardini, Edvige Vulcano, Daniela Ferrari, Roberta Onesimo, Stefano D’Arrigo, Giuseppe Zampino, Maria Pennuto, Alessandro De Luca, Angelo Luigi Vescovi, Jessica Rosati
Published in Stem Cell Research (2024-12-01)Get full text
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Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant by Angela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, Elisa Maria Turco, Martina Mazzoni, Barbara Torres, Paola Zanfardino, Edvige Vulcano, Daniela Ferrari, Devid Damiani, Filippo M. Santorelli, Alessandro De Luca, Maria Pennuto, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Diana Rosati
Published in Stem Cell Research (2026-08-01)Get full text
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Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism by Mathilde Chivet, Caterina Marchioretti, Marco Pirazzini, Diana Piol, Chiara Scaramuzzino, Maria Josè Polanco, Vanina Romanello, Emanuela Zuccaro, Sara Parodi, Maurizio D’Antonio, Carlo Rinaldi, Fabio Sambataro, Elena Pegoraro, Gianni Soraru, Udai Bhan Pandey, Marco Sandri, Manuela Basso, Maria Pennuto
Published in Cells (2020-01-01)Get full text
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Generation and characterization of a patient-derived iPSC line, CSSi022-A (15666), with a pathogenic MFN2 mutation causing Charcot-Marie-Tooth disease type 2A by Angela Maria Giada Giovenale, Ilaria Ferrone, Silvia Tomaselli, Martina Mazzoni, Giorgia Ruotolo, Elisa Maria Turco, Barbara Torres, Alessandro De Luca, Paola Zanfardino, Edvige Vulcano, Daniela Ferrari, Devid Damiani, Filippo M. Santorelli, Maria Pennuto, Angelo Luigi Vescovi, Vittoria Petruzzella, Jessica Rosati
Published in Stem Cell Research (2025-10-01)Get full text
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Increased SIRT3 combined with PARP inhibition rescues motor function of SBMA mice by David R. Garcia Castro, Joseph R. Mazuk, Erin M. Heine, Daniel Simpson, R. Seth Pinches, Caroline Lozzi, Kathryn Hoffman, Phillip Morrin, Dylan Mathis, Maria V. Lebedev, Elyse Nissley, Kang Hoo Han, Tyler Farmer, Diane E. Merry, Qiang Tong, Maria Pennuto, Heather L. Montie
Published in iScience (2023-08-01)Get full text
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Generation and characterization of the CSSi021-A (15665) human induced pluripotent stem cell line from a Smith-Magenis syndrome patient with a heterozygous RAI1 mutation by Angela Maria Giada Giovenale, Elisa Maria Turco, Ilaria Ferrone, Chiara Giacometti, Silvia Tomaselli, Edvige Vulcano, Daniela Ferrari, Ornella Candido, Laura Bernardini, Alessandro De Luca, Nadia Trivieri, Elena Binda, Roberta Onesimo, Stefano D’Arrigo, Giuseppe Zampino, Maria Pennuto, Angelo Luigi Vescovi, Jessica Diana Rosati
Published in Stem Cell Research (2025-08-01)Get full text
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LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice by Ramachandran Prakasam, Angela Bonadiman, Roberta Andreotti, Emanuela Zuccaro, Davide Dalfovo, Caterina Marchioretti, Debasmita Tripathy, Gianluca Petris, Eric N. Anderson, Alice Migazzi, Laura Tosatto, Anna Cereseto, Elena Battaglioli, Gianni Sorarù, Wooi Fang Lim, Carlo Rinaldi, Fabio Sambataro, Naemeh Pourshafie, Christopher Grunseich, Alessandro Romanel, Udai Bhan Pandey, Andrea Contestabile, Giuseppe Ronzitti, Manuela Basso, Maria Pennuto
Published in Nature Communications (2023-02-01)Get full text
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Decoding distinctive features of plasma extracellular vesicles in amyotrophic lateral sclerosis by Laura Pasetto, Stefano Callegaro, Alessandro Corbelli, Fabio Fiordaliso, Deborah Ferrara, Laura Brunelli, Giovanna Sestito, Roberta Pastorelli, Elisa Bianchi, Marina Cretich, Marcella Chiari, Cristina Potrich, Cristina Moglia, Massimo Corbo, Gianni Sorarù, Christian Lunetta, Andrea Calvo, Adriano Chiò, Gabriele Mora, Maria Pennuto, Alessandro Quattrone, Francesco Rinaldi, Vito Giuseppe D’Agostino, Manuela Basso, Valentina Bonetto
Published in Molecular Neurodegeneration (2021-08-01)Get full text
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Kv3 channel agonist ameliorates the phenotype of a mouse model of amyotrophic lateral sclerosis by Manuela Marabita, Caterina Marchioretti, Aishwarya Aravamudhan, Simona Zito, Antonella Falconieri, Emanuela Zuccaro, Roberta Andreotti, Lisa Gambarotto, Samuele Metti, Marika Tonellato, Valentina Adami, Kyung Ho Park, Martin J. Gunthorpe, Charles H. Large, Agostino Marasco, Sara Vianello, Jessica Rosati, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Manuela Basso, Angelo Poletti, Giuseppe Alvaro, Gianni Sorarù, Paolo Bonaldo, Ornella Rossetto, Nadia Pilati, Maria Pennuto
Published in Acta Neuropathologica Communications (2025-07-01)Get full text
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Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle by Caterina Marchioretti, Giulia Zanetti, Marco Pirazzini, Gaia Gherardi, Leonardo Nogara, Roberta Andreotti, Paolo Martini, Lorenzo Marcucci, Marta Canato, Samir R. Nath, Emanuela Zuccaro, Mathilde Chivet, Cristina Mammucari, Marco Pacifici, Anna Raffaello, Rosario Rizzuto, Andrea Mattarei, Maria A. Desbats, Leonardo Salviati, Aram Megighian, Gianni Sorarù, Elena Pegoraro, Elisa Belluzzi, Assunta Pozzuoli, Carlo Biz, Pietro Ruggieri, Chiara Romualdi, Andrew P. Lieberman, Gopal J. Babu, Marco Sandri, Bert Blaauw, Manuela Basso, Maria Pennuto
Published in Nature Communications (2023-02-01)Get full text
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Pharmacological inactivation of the prion protein by targeting a folding intermediate by Giovanni Spagnolli, Tania Massignan, Andrea Astolfi, Silvia Biggi, Marta Rigoli, Paolo Brunelli, Michela Libergoli, Alan Ianeselli, Simone Orioli, Alberto Boldrini, Luca Terruzzi, Valerio Bonaldo, Giulia Maietta, Nuria L. Lorenzo, Leticia C. Fernandez, Yaiza B. Codeseira, Laura Tosatto, Luise Linsenmeier, Beatrice Vignoli, Gianluca Petris, Dino Gasparotto, Maria Pennuto, Graziano Guella, Marco Canossa, Hermann C. Altmeppen, Graziano Lolli, Stefano Biressi, Manuel M. Pastor, Jesús R. Requena, Ines Mancini, Maria L. Barreca, Pietro Faccioli, Emiliano Biasini
Published in Communications Biology (2021-01-01)Get full text
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Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome by Elisa Maria Turco, Angela Maria Giada Giovenale, Laura Sireno, Martina Mazzoni, Alessandra Cammareri, Caterina Marchioretti, Laura Goracci, Alessandra Di Veroli, Elena Marchesan, Daniel D’Andrea, Antonella Falconieri, Barbara Torres, Laura Bernardini, Maria Chiara Magnifico, Alessio Paone, Serena Rinaldo, Matteo Della Monica, Stefano D’Arrigo, Diana Postorivo, Anna Maria Nardone, Giuseppe Zampino, Roberta Onesimo, Chiara Leoni, Federico Caicci, Domenico Raimondo, Elena Binda, Laura Trobiani, Antonella De Jaco, Ada Maria Tata, Daniela Ferrari, Francesca Cutruzzolà, Gianluigi Mazzoccoli, Elena Ziviani, Maria Pennuto, Angelo Luigi Vescovi, Jessica Rosati
Published in Cell Death and Disease (2022-11-01)Get full text
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