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Results: 1-13 |
Results: 13
Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and T-tubule abnormalities
Authors: Galbiati, F Engelman, JA Volonte, D Zhang, XL Minetti, C Li, MM Hou, H Kneitz, B Edelmann, W Lisanti, MP
Citation: F. Galbiati et al., Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and T-tubule abnormalities, J BIOL CHEM, 276(24), 2001, pp. 21425-21433
Novel mutation in the CPT II gene in a child with periodic febrile myalgiaand myoglobinuria
Authors: Bruno, C Bado, M Minetti, C Cordone, G DiMauro, S
Citation: C. Bruno et al., Novel mutation in the CPT II gene in a child with periodic febrile myalgiaand myoglobinuria, J CHILD NEU, 15(6), 2000, pp. 390-393
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia
Authors: Carbone, I Bruno, C Sotgia, F Bado, M Broda, P Masetti, E Panella, A Zara, F Bricarelli, FD Cordone, G Lisanti, MP Minetti, C
Citation: I. Carbone et al., Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia, NEUROLOGY, 54(6), 2000, pp. 1373-1376
Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype
Authors: Galbiati, F Volonte, D Chu, JB Li, M Fine, SW Fu, MF Bermudez, J Pedemonte, M Weidenheim, KM Pestell, RG Minetti, C Lisanti, MP
Citation: F. Galbiati et al., Transgenic overexpression of caveolin-3 in skeletal muscle fibers induces a Duchenne-like muscular dystrophy phenotype, P NAS US, 97(17), 2000, pp. 9689-9694
Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation - Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutants and rescues wild-type caveolin-3
Authors: Galbiati, F Volonte, D Minetti, C Bregman, DB Lisanti, MP
Citation: F. Galbiati et al., Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation - Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutants and rescues wild-type caveolin-3, J BIOL CHEM, 275(48), 2000, pp. 37702-37711
Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan - Identification of a central WW-like domain within caveolin family members
Authors: Sotgia, F Lee, JK Das, K Bedford, M Petrucci, TC Macioce, P Sargiacomo, M Bricarelli, FD Minetti, C Sudol, M Lisanti, MP
Citation: F. Sotgia et al., Caveolin-3 directly interacts with the C-terminal tail of beta-dystroglycan - Identification of a central WW-like domain within caveolin family members, J BIOL CHEM, 275(48), 2000, pp. 38048-38058
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy
Authors: Wallgren-Pettersson, C Pelin, K Hilpela, P Donner, K Porfirio, B Graziano, C Swoboda, KJ Fardeau, M Urtizberea, JA Muntoni, F Sewry, C Dubowitz, V Iannaccone, S Minetti, C Pedemonte, M Seri, M Cusano, R Lammens, M Castagna-Sloane, A Beggs, AH Laing, NG de la Chapelle, A
Citation: C. Wallgren-pettersson et al., Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy, NEUROMUSC D, 9(8), 1999, pp. 564-572
Muscular dystrophies: alterations in a limited number of cellular pathways?
Authors: Toniolo, D Minetti, C
Citation: D. Toniolo et C. Minetti, Muscular dystrophies: alterations in a limited number of cellular pathways?, CUR OP GEN, 9(3), 1999, pp. 275-282
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
Authors: Galbiati, F Volonte, D Minetti, C Chu, JB Lisanti, MP
Citation: F. Galbiati et al., 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, J BIOL CHEM, 274(36), 1999, pp. 25632-25641
Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene - Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome
Authors: Sotgia, F Minetti, C Lisanti, MP
Citation: F. Sotgia et al., Localization of the human caveolin-3 gene to the D3S18/D3S4163/D3S4539 locus (3p25), in close proximity to the human oxytocin receptor gene - Identification of the caveolin-3 gene as a candidate for deletion in 3p-syndrome, FEBS LETTER, 452(3), 1999, pp. 177-180
Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy
Authors: Repetto, S Bado, M Broda, P Lucania, G Masetti, E Sotgia, F Carbone, I Pavan, A Bonilla, E Cordone, G Lisanti, MP Minetti, C
Citation: S. Repetto et al., Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy, BIOC BIOP R, 261(3), 1999, pp. 547-550
Early decrease of IIx myosin heavy chain transcripts in Duchenne muscular dystrophy
Authors: Pedemonte, M Sandri, C Schiaffino, S Minetti, C
Citation: M. Pedemonte et al., Early decrease of IIx myosin heavy chain transcripts in Duchenne muscular dystrophy, BIOC BIOP R, 255(2), 1999, pp. 466-469
Molecular genetics of the caveolin gene family: Implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy
Authors: Engelman, JA Zhang, XL Galbiati, F Volonte, D Sotgia, F Pestell, RG Minetti, C Scherer, PE Okamoto, T Lisanti, MP
Citation: Ja. Engelman et al., Molecular genetics of the caveolin gene family: Implications for human cancers, diabetes, Alzheimer disease, and muscular dystrophy, AM J HU GEN, 63(6), 1998, pp. 1578-1587
Risultati: 1-13 |