Carlo Minetti
Carlo Minetti
University of Genova and G.Gaslini Institute, Genova
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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy
C Minetti, F Sotgia, C Bruno, P Scartezzini, P Broda, M Bado, E Masetti, ...
Nature genetics 18 (4), 365-368, 1998
Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities
F Galbiati, JA Engelman, D Volonte, XL Zhang, C Minetti, M Li, H Hou, ...
Journal of Biological Chemistry 276 (24), 21425-21433, 2001
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
M Hirano, G Silvestri, DM Blake, A Lombes, C Minetti, E Bonilla, AP Hays, ...
Neurology 44 (4), 721-721, 1994
Acute quadriplegic myopathy: a complication of treatment with steroids, nondepolarizing blocking agents, or both
M Hirano, BR Ott, EC Raps, C Minetti, L Lennihan, NP Libbey, E Bonilla, ...
Neurology 42 (11), 2082-2082, 1992
Caveolin-3 directly interacts with the C-terminal tail of β-Dystroglycan identification of a central WW-like domain within caveolin family members
F Sotgia, JK Lee, K Das, M Bedford, TC Petrucci, P Macioce, ...
Journal of Biological Chemistry 275 (48), 38048-38058, 2000
Hyperactivation of oxidative mitochondrial metabolism in epithelial cancer cells in situ: visualizing the therapeutic effects of metformin in tumor tissue
D Whitaker-Menezes, UE Martinez-Outschoorn, N Flomenberg, R Birbe, ...
Cell cycle 10 (23), 4047-4064, 2011
Molecular genetics of the caveolin gene family: implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy
JA Engelman, XL Zhang, F Galbiati, D Volonté, F Sotgia, RG Pestell, ...
The American Journal of Human Genetics 63 (6), 1578-1587, 1998
Caveolinopathies: from the biology of caveolin-3 to human diseases
E Gazzerro, F Sotgia, C Bruno, MP Lisanti, C Minetti
European journal of human genetics 18 (2), 137-145, 2010
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases
SE Woodman, F Sotgia, F Galbiati, C Minetti, MP Lisanti
Neurology 62 (4), 538-543, 2004
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase
I Carbone, C Bruno, F Sotgia, M Bado, P Broda, E Masetti, A Panella, ...
Neurology 54 (6), 1373-1376, 2000
Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C) Retention of LGMD-1C caveolin-3 mutants within the golgi complex
F Galbiati, D Volonté, C Minetti, JB Chu, MP Lisanti
Journal of Biological Chemistry 274 (36), 25632-25641, 1999
Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression
M Pescatori, A Broccolini, C Minetti, E Bertini, C Bruno, A D'amico, ...
The FASEB Journal 21 (4), 1210-1226, 2007
Dystrophinopathy in isolated cases of myopathy in females
EP Hoffman, K Arahata, C Minetti, E Bonilla, LP Rowland, C Angelini, ...
Neurology 42 (5), 967-967, 1992
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy
E Mercuri, E Bertini, S Messina, A Solari, A D'amico, C Angelozzi, ...
Neurology 68 (1), 51-55, 2007
Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype
F Galbiati, D Volonté, JB Chu, M Li, SW Fine, M Fu, J Bermudez, ...
Proceedings of the National Academy of Sciences 97 (17), 9689-9694, 2000
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study
E Mercuri, S Messina, C Bruno, M Mora, E Pegoraro, GP Comi, A D'Amico, ...
Neurology 72 (21), 1802-1809, 2009
Phenotypic heterogeneity of the 8344A> G mtDNA “MERRF” mutation
M Mancuso, D Orsucci, C Angelini, E Bertini, V Carelli, GP Comi, C Minetti, ...
Neurology 80 (22), 2049-2054, 2013
STXBP1 encephalopathy: a neurodevelopmental disorder including epilepsy
H Stamberger, M Nikanorova, MH Willemsen, P Accorsi, M Angriman, ...
Neurology 86 (10), 954-962, 2016
Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin and dystrophin-associated proteins
G Bonuccelli, F Sotgia, W Schubert, DS Park, PG Frank, SE Woodman, ...
The American journal of pathology 163 (4), 1663-1675, 2003
Apoptotic myonuclei in human Duchenne muscular dystrophy
M Sandri, C Minetti, M Pedemonte, U Carraro
Laboratory investigation 78 (8), 1005-1016, 1998
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