Sfoglia per Autore
Mitochondrial implications in bulbospinal muscular atrophy (Kennedy disease)
2016-01-01 Finsterer, Josef; Mishra, Anushree; Wakil, Salma; Pennuto, Maria; Soraru, Gianni
No effect of AR polyG polymorphism on spinal and bulbar muscular atrophy phenotype
2016-01-01 Bertolin, C.; Querin, G.; Da Re, E.; Sagnelli, A.; Bello, L.; Cao, M.; Muscas, M.; Pennuto, Maria; Ermani, M.; Pegoraro, E.; Mariotti, C.; Gellera, C.; Hanna, M. G.; Pareyson, D.; Fratta, P.; Sorarù, G.
Introduction to the Special Issue on Spinal and Bulbar Muscular Atrophy
2016-01-01 Pennuto, Maria; Gozes, Illana
Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients
2016-01-01 Querin, Giorgia; Bertolin, Cinzia; Da Re, Elisa; Volpe, Marco; Zara, Gabriella; Pegoraro, Elena; Caretta, Nicola; Foresta, Carlo; Silvano, Maria; Corrado, Domenico; Iafrate, Massimo; Angelini, Lorenzo; Sartori, Leonardo; Pennuto, Maria; Gaiani, Alessandra; Bello, Luca; Semplicini, Claudio; Pareyson, Davide; Silani, Vincenzo; Ermani, Mario; Ferlin, Alberto; Sorarù, Gianni; Mandrioli, Jessica; Galasso, Giuliana; Mazzini, Letizia; Romito, Silvia; Tonin, Paola; Scarpelli, Mauro; Ricci, Giulia; Siciliano, Gabriele; Petrucci, Antonio; Massa, Roberto; Polo, Alberto; Mariotti, Caterina; Sagnelli, Anna; Palmieri, Arianna; Briani, Chiara
In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy
2016-01-01 Pennuto, Maria; Basso, Manuela
Mutations in TGM6 induce the unfolded protein response in SCA35
2017-01-01 Tripathy, Debasmita; Vignoli, Beatrice; Ramesh, Nandini; Polanco, Maria Jose; Coutelier, Marie; Stephen, Christopher D.; Canossa, Marco; Monin, Marie lorraine; Aeschlimann, Pascale; Turberville, Shannon; Aeschlimann, Daniel; Schmahmann, Jeremy D.; Hadjivassiliou, Marios; Durr, Alexandra; Pandey, Udai B.; Pennuto, Maria; Basso, Manuela
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients
2017-01-01 Borgia, Doriana; Malena, Adriana; Spinazzi, Marco; Andrea Desbats, Maria; Salviati, Leonardo; Russell, Aaron P; Miotto, Giovanni; Tosatto, Laura; Pegoraro, Elena; Sorarù, Gianni; Pennuto, Maria; Vergani, Lodovica
The role of AR polyQ tract in male breast carcinoma: lesson from an SBMA case
2017-01-01 Querin, G; Martinelli, I; Bertolin, C; Pegoraro, E; Pennuto, Maria; Sorarù, G.
Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes
2017-01-01 Milioto, Carmelo; Malena, Adriana; Maino, Eleonora; Polanco, Maria J.; Marchioretti, Caterina; Borgia, Doriana; Gomes Pereira, Marcelo; Blaauw, Bert; Lieberman, Andrew P.; Venturini, Roberta; Plebani, Mario; Sambataro, Fabio; Vergani, Lodovica; Pegoraro, Elena; Sorar, Gianni; Pennuto, Maria
Altered ionic currents and amelioration by IGF-1 and PACAP in motoneuron-derived cells modelling SBMA
2017-01-01 Jiménez Garduño, Aura M.; Juárez-Hernández, Leon J.; Polanco, María J.; Tosatto, Laura; Michelatti, Daniela; Arosio, Daniele; Basso, Manuela; Pennuto, Maria; Musio, Carlo
Post-translational Modifications and Protein Quality Control in Motor Neuron and Polyglutamine Diseases
2017-01-01 Sambataro, Fabio; Pennuto, Maria
ClC-2-like Chloride Current Alterations in a Cell Model of Spinal and Bulbar Muscular Atrophy, a Polyglutamine Disease
2020-01-01 Martinez-Rojas, V. A.; Jimenez-Garduno, A. M.; Michelatti, D.; Tosatto, L.; Marchioretto, M.; Arosio, D.; Basso, M.; Pennuto, M.; Musio, C.
NurR1 and ERR1 modulate the expression of genes of a DRD2 coexpression network enriched for schizophrenia risk
2020-01-01 Torretta, S.; Rampino, A.; Basso, M.; Pergola, G.; Carlo, P. D.; Shin, J. H.; Kleinman, J. E.; Hyde, T. M.; Weinberger, D. R.; Masellis, R.; Blasi, G.; Pennuto, M.; Bertolino, A.
Polyglutamine-Expanded Androgen Receptor Alteration of Skeletal Muscle Homeostasis and Myonuclear Aggregation Are Affected by Sex, Age and Muscle Metabolism
2020-01-01 Chivet, Mathilde; Marchioretti, Caterina; Pirazzini, Marco; Piol, Diana; Scaramuzzino, Chiara; Polanco, Maria Josè; Romanello, Vanina; Zuccaro, Emanuela; Parodi, Sara; D'Antonio, Maurizio; Rinaldi, Carlo; Sambataro, Fabio; Pegoraro, Elena; Soraru, Gianni; Pandey, Udai Bhan; Sandri, Marco; Basso, Manuela; Pennuto, Maria
Pharmacological inactivation of the prion protein by targeting a folding intermediate
2021-01-01 Spagnolli, Giovanni; Massignan, Tania; Astolfi, Andrea; Biggi, Silvia; Rigoli, Marta; Brunelli, Paolo; Libergoli, Michela; Ianeselli, Alan; Orioli, Simone; Boldrini, Alberto; Terruzzi, Luca; Bonaldo, Valerio; Maietta, Giulia; Lorenzo, Nuria L; Fernandez, Leticia C; Codeseira, Yaiza B; Tosatto, Laura; Linsenmeier, Luise; Vignoli, Beatrice; Petris, Gianluca; Gasparotto, Dino; Pennuto, Maria; Guella, Graziano; Canossa, Marco; Altmeppen, Hermann C; Lolli, Graziano; Biressi, Stefano; Pastor, Manuel M; Requena, Jesús R; Mancini, Ines; Barreca, Maria L; Faccioli, Pietro; Biasini, Emiliano
Huntingtin-mediated axonal transport requires arginine methylation by PRMT6
2021-01-01 Migazzi, A.; Scaramuzzino, C.; Anderson, E. N.; Tripathy, D.; Hernandez, I. H.; Grant, R. A.; Roccuzzo, M.; Tosatto, L.; Virlogeux, A.; Zuccato, C.; Caricasole, A.; Ratovitski, T.; Ross, C. A.; Pandey, U. B.; Lucas, J. J.; Saudou, F.; Pennuto, M.; Basso, M.
Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscle
2023-01-01 Marchioretti, Caterina; Andreotti, Roberta; Zuccaro, Emanuela; Lieberman, Andrew P; Basso, Manuela; Pennuto, Maria
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice
2023-01-01 Prakasam, Ramachandran; Bonadiman, Angela; Andreotti, Roberta; Zuccaro, Emanuela; Dalfovo, Davide; Marchioretti, Caterina; Tripathy, Debasmita; Petris, Gianluca; Anderson, Eric N.; Migazzi, Alice; Tosatto, Laura; Cereseto, Anna; Battaglioli, Elena; Sorarù, Gianni; Lim, Wooi Fang; Rinaldi, Carlo; Sambataro, Fabio; Pourshafie, Naemeh; Grunseich, Christopher; Romanel, Alessandro; Pandey, Udai Bhan; Contestabile, Andrea; Ronzitti, Giuseppe; Basso, Manuela; Pennuto, Maria
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle
2023-01-01 Marchioretti, Caterina; Zanetti, Giulia; Pirazzini, Marco; Gherardi, Gaia; Nogara, Leonardo; Andreotti, Roberta; Martini, Paolo; Marcucci, Lorenzo; Canato, Marta; Nath, Samir R.; Zuccaro, Emanuela; Chivet, Mathilde; Mammucari, Cristina; Pacifici, Marco; Raffaello, Anna; Rizzuto, Rosario; Mattarei, Andrea; Desbats, Maria A.; Salviati, Leonardo; Megighian, Aram; Sorarù, Gianni; Pegoraro, Elena; Belluzzi, Elisa; Pozzuoli, Assunta; Biz, Carlo; Ruggieri, Pietro; Romualdi, Chiara; Lieberman, Andrew P.; Babu, Gopal J.; Sandri, Marco; Blaauw, Bert; Basso, Manuela; Pennuto, Maria
Antagonistic effect of cyclin-dependent kinases and a calcium-dependent phosphatase on polyglutamine-expanded androgen receptor toxic gain of function
2023-01-01 Piol, Diana; Tosatto, Laura; Zuccaro, Emanuela; Anderson, Eric N; Falconieri, Antonella; Polanco, Maria J; Marchioretti, Caterina; Lia, Federica; White, Joseph; Bregolin, Elisa; Minervini, Giovanni; Parodi, Sara; Salvatella, Xavier; Arrigoni, Giorgio; Ballabio, Andrea; La Spada, Albert R; Tosatto, Silvio C E; Sambataro, Fabio; Medina, Diego L; Pandey, Udai B; Basso, Manuela; Pennuto, Maria
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