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pro vyhledávání: '"Bozzi M (1)"'
Autor:
Signorino G (1), Covaceuszach S (2), Bozzi M (1), (3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3), (6), Sciandra F (3).
Publikováno v:
Human mutation 39 (2018): 266–280.
info:cnr-pdr/source/autori:Signorino G (1), Covaceuszach S (2), Bozzi M (1),(3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3),(6), Sciandra F (3)./titolo:A dystroglycan mutation (p.Cys66uPhe) associated to muscle-eye-brain disease with multicystic leukodystrophy results in ER-retention of the mutant protein/doi:/rivista:Human mutation/anno:2018/pagina_da:266/pagina_a:280/intervallo_pagine:266–280/volume:39
info:cnr-pdr/source/autori:Signorino G (1), Covaceuszach S (2), Bozzi M (1),(3), Hübner W (4), Mönkemöller V (4), Konarev PV (5), Cassetta A (2), Brancaccio A (3),(6), Sciandra F (3)./titolo:A dystroglycan mutation (p.Cys66uPhe) associated to muscle-eye-brain disease with multicystic leukodystrophy results in ER-retention of the mutant protein/doi:/rivista:Human mutation/anno:2018/pagina_da:266/pagina_a:280/intervallo_pagine:266–280/volume:39
Dystroglycan (DG) is a cell adhesion complex composed by two subunits, the highly glycosylated ?-DG and the transmembrane ?-DG. In skeletal muscle, DG is involved in dystroglycanopathies, a group of heterogeneous muscular dystrophies characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::adbed9846b9650783ff2d45322dc2d02
http://www.cnr.it/prodotto/i/390142
http://www.cnr.it/prodotto/i/390142
Autor:
Bozzi M. 1, Bianchi M. 2, Sciandra F. 3, Paci M. 4, Giardina B. 5, Brancaccio A. 6, Cicero D.O. 7.
Publikováno v:
Biochemistry (Easton) 42 (2003): 13717–13724.
info:cnr-pdr/source/autori:Bozzi M. 1, Bianchi M. 2, Sciandra F. 3, Paci M. 4, Giardina B. 5, Brancaccio A. 6, Cicero D.O. 7./titolo:Structural characterization by NMR of the natively unfolded extracellular domain of beta-dystroglycan: toward the identification of the binding epitope for alpha-dystroglycan/doi:/rivista:Biochemistry (Easton)/anno:2003/pagina_da:13717/pagina_a:13724/intervallo_pagine:13717–13724/volume:42
info:cnr-pdr/source/autori:Bozzi M. 1, Bianchi M. 2, Sciandra F. 3, Paci M. 4, Giardina B. 5, Brancaccio A. 6, Cicero D.O. 7./titolo:Structural characterization by NMR of the natively unfolded extracellular domain of beta-dystroglycan: toward the identification of the binding epitope for alpha-dystroglycan/doi:/rivista:Biochemistry (Easton)/anno:2003/pagina_da:13717/pagina_a:13724/intervallo_pagine:13717–13724/volume:42
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::910b3f0152bf2a0364cea2d2aca64155
http://www.cnr.it/prodotto/i/17308
http://www.cnr.it/prodotto/i/17308