Zobrazeno 1 - 10
of 104
pro vyhledávání: '"Maria Pennuto"'
Autor:
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
Publikováno v:
Stem Cell Research, Vol 78, Iss , Pp 103468- (2024)
Hypomyelinating leukodystrophies (HLD) are a group of heterogeneous genetic disorders characterized by a deficit in myelin deposition during brain development. Specifically, 4H-Leukodystrophy is a recessive disease due to biallelic mutations in the P
Externí odkaz:
https://doaj.org/article/0f7761d770824ef197fd91d880bd73f6
Autor:
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
Publikováno v:
Stem Cell Research, Vol 81, Iss , Pp 103544- (2024)
Smith-Magenis syndrome (SMS) is a complex neurodevelopmental disorder with a birth incidence of 1:25,000. SMS is caused by haploinsufficiency of the retinoic acid-induced retinoic acid1 (RAI1) gene, determined by an interstitial deletion of ∼ 3.7 M
Externí odkaz:
https://doaj.org/article/c7d1741ad7fa4ba3a093621038ca309c
Autor:
Lorenzo Blasi, Daniele Sabbatini, Andrea Fortuna, Giorgia Querin, Ilaria Martinelli, Sara Vianello, Cinzia Bertolin, Davide Pareyson, Maria Pennuto, Elena Pegoraro, Luca Bello, Gianni Sorarù
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-6 (2023)
Abstract Serum creatinine has been indicated as a potential marker of motor function in SBMA and results form previous longitudinal studies pointed to its decline over time. This is a longitudinal retrospective study investigating creatinine changes
Externí odkaz:
https://doaj.org/article/235f22822deb4df9bceedd58a3147aac
Autor:
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
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-22 (2023)
Here, Prakasam and colleagues show that polyQ-expanded androgen receptor toxicity can be attenuated using artificial miRNAs targeting Lsd1 and Prmt6, two AR-co-activators overexpressed in an androgen-dependent manner specifically in skeletal muscle,
Externí odkaz:
https://doaj.org/article/9fd52a5a537f405caa90331491bb84a3
Autor:
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
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Marchioretti and colleagues show that in the skeletal muscle of SBMA mice and patients there is an early, but reversible alteration of expression of genes involved in muscle contraction and of mitochondrial respiration, followed by accumulation of ca
Externí odkaz:
https://doaj.org/article/82a8527dca0543cd91761ed8387c3654
Autor:
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
Publikováno v:
iScience, Vol 26, Iss 8, Pp 107375- (2023)
Summary: Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease with substantial mitochondrial and metabolic dysfunctions. SBMA is caused by polyglutamine (polyQ) expansion in the androgen receptor (AR). Activating or increasing the NAD
Externí odkaz:
https://doaj.org/article/0ad1fa7b373a453e989aeb3538dcebdf
Autor:
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
Publikováno v:
Cell Death and Disease, Vol 13, Iss 11, Pp 1-16 (2022)
Abstract Smith-Magenis syndrome (SMS) is a neurodevelopmental disorder characterized by cognitive and behavioral symptoms, obesity, and sleep disturbance, and no therapy has been developed to alleviate its symptoms or delay disease onset. SMS occurs
Externí odkaz:
https://doaj.org/article/3481a3d58ebf491c977d49d933ec8e59
Autor:
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
Publikováno v:
Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-21 (2021)
Abstract Background Amyotrophic lateral sclerosis (ALS) is a multifactorial, multisystem motor neuron disease for which currently there is no effective treatment. There is an urgent need to identify biomarkers to tackle the disease’s complexity and
Externí odkaz:
https://doaj.org/article/c1ded2cb5e844a29a6fd916295a220b1
Publikováno v:
Cells, Vol 12, Iss 3, p 502 (2023)
Skeletal muscle is the most abundant tissue in the body and requires high levels of energy to function properly. Skeletal muscle allows voluntary movement and body posture, which require different types of fiber, innervation, energy, and metabolism.
Externí odkaz:
https://doaj.org/article/d49f627a4a694818936830a0cee66d9b
Autor:
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
Publikováno v:
Communications Biology, Vol 4, Iss 1, Pp 1-16 (2021)
Spagnolli, Massignan, Astolfi et al. design a new drug discovery approach, termed Pharmacological Protein Inactivation by Folding Intermediate Targeting, in which folding intermediates of disease-causing proteins are targeted. They test it on the cel
Externí odkaz:
https://doaj.org/article/e109df8e1973483785b0d57e6d79e2af