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Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan: identification of a central WW-like domain within caveolin family members 1-gen-2000 Sotgia, F; Lee, Jk; Das, K; Bedford, M; Petrucci, Tc; Macioce, P; Sargiacomo, M; Minetti, Carlo; Sudol, M; Lisanti, Mp
Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype 1-gen-2000 Galbiati, F; Volontè, D; Chu, Jb; Li, M; Fine, Sw; Fu, M; Bermudez, J; Pedemonte, M; Weidenheim, Km; Pestell, Rg; Minetti, Carlo; Lisanti, Mp
Novel mutation in the CPT II gene in a child with periodic febrile myalgia and myoglobinuria. 1-gen-2000 Bruno, C; Bado, M; Minetti, Carlo; Cordone, G; Dimauro, S.
Le malattie mitocondriali. Aggiornamento sugli aspetti biochimici e genetico-molecolari. 1-gen-2001 Bruno, C; Bado, M; Pedemonte, M; Lorini, RENATA GIUSEPPINA; Fois, A; Cordone, G; Minetti, Carlo
Indagini morfologiche e genetico-metaboliche nelle malattie muscolari 1-gen-2001 Minetti, Carlo; Bruno, Claudio; Carbone, Ilaria; Broda, Paolo; Repetto, Silvia; Rubini, Patrizia; Gregori, Laura; Pedemonte, Marina; Tortorelli, Silvia; Bado, Massimo; Cordone, Giuseppe
Caveolin-3 null mice show a loss of caveolae, changes i the microdomain distribution of the dystrophin-glycoprotein complex, and T-tubule abnormalities 1-gen-2001 Galbiati, F; Engelman, Ja; Volont, D; Zhang, Xl; Minetti, Carlo; Li, M; Hou, H; Kneitz, B; Edelmann, W; Lisanti, Mp
Identification of novel WFS1 mutations in Italian children with Wolfram Syndrome 1-gen-2002 Carbone, I; Cotellessa, Mario; Bertini, I; Bruno, C; Minetti, Carlo; Giannattasio, A; Minicucci, Laura; Mocchi, M; Lombardo, F; Lorini, RENATA GIUSEPPINA
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency 1-gen-2002 Minetti, Carlo; Bado, M; Broda, P; Sotgia, F; Bruno, C; Galbiati, F; Volont, D; Lucania, G; Pavan, A; Bonilla, E; Lisanti, Mp; Cordone, G.
Intracellular retention of GPI-linked proteins in caveolin-deficient cells 1-gen-2002 Sotgia, F; Razani, B; Bonuccelli, G; Shubert, W; Battista, M; Hyangkyu, L; Capozza, F; Shubert, Al; Minetti, Carlo; Buckley, T; Lisanti, M.
A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes 1-gen-2002 Carbone, I; Cotellessa, Mario; Barella, C; Minetti, Carlo; Ghiggeri, Gm; Caridi, G; Perfumo, F; Lorini, RENATA GIUSEPPINA
Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. 1-gen-2002 Bruno, C; Lanzillo, R; Biedi, C; Iadicicco, L; Minetti, Carlo; Santoro, L.
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. 1-gen-2002 Bruno, C; Biancheri, R; Garavaglia, B; Biedi, C; Rossi, A; Lamba, Ld; Bado, M; Greco, M; Zeviani, M; Minetti, Carlo
Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion. 1-gen-2002 Bruno, C; Gandullia, P; Santorelli, Fm; Biedi, C; Carbone, I; Bado, M; Gatti, R; Minetti, Carlo
Reduced aquaporin-4 expression in human muscular dystrophies: a common feature? 1-gen-2002 Frigeri, A; Nicchia, Gp; Repetto, S; Bado, M; Minetti, Carlo; Svelto, M.
Familial isolated hyperCKemia associated with a new mutation in the caveolin-3 (CAV-3) gene 1-gen-2002 Merlini, L; Carbone, I; Capanni, C; Sabatelli, P; Tortorelli, S; Sotgia, F; Lisanti, Mp; Bruno, C; Minetti, Carlo
Mitochondrial myopathy and respiratory failure associated with a mutation in the mitochondrial tRNA glutamic acid gene. 1-gen-2003 Bruno, C; Sacco, O; Santorelli, Fm; Assereto, S; Tonoli, E; Bado, M; Rossi, Ga; Minetti, Carlo
Muscle biopsy 1-gen-2003 Minetti, Carlo
Leucoencefalopatie su base genetica in età pediatrica 1-gen-2003 Biancheri, Roberta; ROCCO M, Di; Rossi, A; Filocamo, M; Veneselli, EDVIGE MARIA; Minetti, Carlo
Proteasome inhibitor (MG-132) treatment of mdx mice rescues the expression and membrane localization of dystrophin-associated proteins 1-gen-2003 Bonuccelli, G; Sotgia, F; Schubert, W; Park, D; Frank, Pg; Woodman, Se; Insabato, L; Cammer, M; Minetti, Carlo; Lisanti, Mp
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases 1-gen-2003 Sotgia, F; Bonuccelli, G; Minetti, C; Woodman, Se; Capozza, F; Kemp, Rg; Scherer, Pe; Lisanti, Mp.
Mostrati risultati da 41 a 60 di 274
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