Autophagy is defective in collagen VI muscular dystrophies, and its reactivation rescues myofiber degeneration P Grumati, L Coletto, P Sabatelli, M Cescon, A Angelin, E Bertaggia, ... Nature medicine 16 (11), 1313-1320, 2010 | 590 | 2010 |
Mitochondrial dysfunction and apoptosis in myopathic mice with collagen VI deficiency WA Irwin, N Bergamin, P Sabatelli, C Reggiani, A Megighian, L Merlini, ... Nature genetics 35 (4), 367-371, 2003 | 589 | 2003 |
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome J van Reeuwijk, M Janssen, C van den Elzen, DBV De Bernabé, ... Journal of medical genetics 42 (12), 907-912, 2005 | 476 | 2005 |
Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI O Camacho Vanegas, E Bertini, RZ Zhang, S Petrini, C Minosse, ... Proceedings of the National Academy of Sciences 98 (13), 7516-7521, 2001 | 362 | 2001 |
Cyclosporin A corrects mitochondrial dysfunction and muscle apoptosis in patients with collagen VI myopathies L Merlini, A Angelin, T Tiepolo, P Braghetta, P Sabatelli, A Zamparelli, ... Proceedings of the National Academy of Sciences 105 (13), 5225-5229, 2008 | 262 | 2008 |
Mitochondrial dysfunction in the pathogenesis of Ullrich congenital muscular dystrophy and prospective therapy with cyclosporins A Angelin, T Tiepolo, P Sabatelli, P Grumati, N Bergamin, C Golfieri, ... Proceedings of the National Academy of Sciences 104 (3), 991-996, 2007 | 238 | 2007 |
EMILIN-1 deficiency induces elastogenesis and vascular cell defects M Zanetti, P Braghetta, P Sabatelli, I Mura, R Doliana, A Colombatti, ... Molecular and cellular biology, 2004 | 234 | 2004 |
Dystrophin levels as low as 30% are sufficient to avoid muscular dystrophy in the human M Neri, S Torelli, S Brown, I Ugo, P Sabatelli, L Merlini, P Spitali, ... Neuromuscular Disorders 17 (11-12), 913-918, 2007 | 218 | 2007 |
Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy E Demir, P Sabatelli, V Allamand, A Ferreiro, B Moghadaszadeh, ... The American Journal of Human Genetics 70 (6), 1446-1458, 2002 | 202 | 2002 |
Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy L Cartegni, MR Di Barletta, R Barresi, S Squarzoni, P Sabatelli, N Maraldi, ... Human molecular genetics 6 (13), 2257-2264, 1997 | 169 | 1997 |
Preclinical PK and PD studies on 2′-O-methyl-phosphorothioate RNA antisense oligonucleotides in the mdx mouse model H Heemskerk, C De Winter, P Van Kuik, N Heuvelmans, P Sabatelli, ... Molecular Therapy 18 (6), 1210-1217, 2010 | 167 | 2010 |
Emilin1 Deficiency Causes Structural and Functional Defects of Lymphatic Vasculature C Danussi, P Spessotto, A Petrucco, B Wassermann, P Sabatelli, ... Molecular and cellular biology 28 (12), 4026-4039, 2008 | 162 | 2008 |
Genetic ablation of cyclophilin D rescues mitochondrial defects and prevents muscle apoptosis in collagen VI myopathic mice E Palma, T Tiepolo, A Angelin, P Sabatelli, NM Maraldi, E Basso, ... Human molecular genetics 18 (11), 2024-2031, 2009 | 154 | 2009 |
Collagen VI deficiency affects the organization of fibronectin in the extracellular matrix of cultured fibroblasts P Sabatelli, P Bonaldo, G Lattanzi, P Braghetta, N Bergamin, C Capanni, ... Matrix Biology 20 (7), 475-486, 2001 | 153 | 2001 |
Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem Y Zou, RZ Zhang, P Sabatelli, ML Chu, CG Bönnemann Journal of Neuropathology & Experimental Neurology 67 (2), 144-154, 2008 | 152 | 2008 |
The cyclophilin inhibitor Debio 025 normalizes mitochondrial function, muscle apoptosis and ultrastructural defects in Col6a1−/− myopathic mice T Tiepolo, A Angelin, E Palma, P Sabatelli, L Merlini, L Nicolosi, F Finetti, ... British journal of pharmacology 157 (6), 1045-1052, 2009 | 147 | 2009 |
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy I Filesi, F Gullotta, G Lattanzi, MR D'Apice, C Capanni, AM Nardone, ... Physiological genomics 23 (2), 150-158, 2005 | 136 | 2005 |
The 180-kDa isoform of topoisomerase II is localized in the nucleolus and belongs to the structural elements of the nucleolar remnant N Zini, AM Martelli, P Sabatelli, S Santi, C Negri, GCBA Ricotti, ... Experimental cell research 200 (2), 460-466, 1992 | 132 | 1992 |
Nuclear changes in a case of X‐linked Emery‐Dreifuss muscular dystrophy A Ognibene, P Sabatelli, S Petrini, S Squarzoni, M Riccio, S Santi, ... Muscle & Nerve: Official Journal of the American Association of …, 1999 | 118 | 1999 |
Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies P Sabatelli, SK Gara, P Grumati, A Urciuolo, F Gualandi, R Curci, ... Journal of Investigative Dermatology 131 (1), 99-107, 2011 | 105 | 2011 |