Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Limb-girdle muscular dystrophy type 2H"'
Autor:
Elisa Lazzari, Medhat S. El-Halawany, Matteo De March, Floriana Valentino, Francesco Cantatore, Chiara Migliore, Silvia Onesti, Germana Meroni
Publikováno v:
Cells, Vol 8, Iss 3, p 254 (2019)
Members of the tripartite motif family of E3 ubiquitin ligases are characterized by the presence of a conserved N-terminal module composed of a RING domain followed by one or two B-box domains, a coiled-coil and a variable C-terminal region. The RING
Externí odkaz:
https://doaj.org/article/c5aeb121523d4554a9b4d79a5dcb7b55
Autor:
David K. Johnson, Andrea David Re Cecconi, Kevin P. Battaile, Jessica Kawakami, Rosanna Piccirillo, Nicolò Panini, Scott Lovell, Joseph A Kollhoff, Massimo Russo, Simranjot Bawa, Maithri M. Kashipathy, Erika R. Geisbrecht, David S. Brooks, Kenny Baumann, Michal Zolkiewski, Samantha Gameros, Samuel Bouyain
Publikováno v:
Molecular Biology of the Cell
Mutations in two different domains of the ubiquitously expressed TRIM32 protein give rise to two clinically separate diseases, one of which is Limb-girdle muscular dystrophy type 2H (LGMD2H). Uncovering the muscle-specific role of TRIM32 in LGMD2H pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f9fcc2b8803706c1adecd50bc1d7864
http://europepmc.org/articles/PMC8098830
http://europepmc.org/articles/PMC8098830
Autor:
Francesco Cantatore, Floriana Valentino, Matteo De March, Medhat S. El-Halawany, Germana Meroni, Chiara Migliore, Elisa Lazzari, Silvia Onesti
Publikováno v:
Cells
Volume 8
Issue 3
Cells, Vol 8, Iss 3, p 254 (2019)
Volume 8
Issue 3
Cells, Vol 8, Iss 3, p 254 (2019)
Members of the tripartite motif family of E3 ubiquitin ligases are characterized by the presence of a conserved N-terminal module composed of a RING domain followed by one or two B-box domains, a coiled-coil and a variable C-terminal region. The RING
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8ed590363b99553e06f7a76ee960636
http://hdl.handle.net/11368/2940141
http://hdl.handle.net/11368/2940141
Autor:
Corrado Angelini
Publikováno v:
Genetic Neuromuscular Disorders ISBN: 9783319564531
In 1973, Jerusalem et al. [1] described two Hutterite brothers affected with a congenital muscle disorder called sarcotubular myopathy, because of its unique structural features consisting in small vacuoles due to focal dilatation of the sarcotubular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8257d6b5a7a917500989c88c91e74e57
https://doi.org/10.1007/978-3-319-56454-8_17
https://doi.org/10.1007/978-3-319-56454-8_17
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Andrew G. Engel, Klaus Wrogemann, Ursula Klutzny, Patrick Frosk, Hanns Lochmüller, Benedikt Schoser
Publikováno v:
Annals of Neurology. 57:591-595
Sarcotubular myopathy (OMIM 268950) is a rare autosomal recessive myopathy first described in two Hutterite brothers from South Dakota and in two non-Hutterite brothers from Germany. We report that sarcotubular myopathy (STM) is caused by mutation in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::237a53d195d7c10ba5334adc13a2968d
https://doi.org/10.1002/ana.20441
https://doi.org/10.1002/ana.20441
Autor:
A. Kania, Klaus Wrogemann, M. DelBigio, X. Wu, H. Ding, D. Gietz, Y. Heng, N. Patel, A. Funk, S. Krawitz, C. Hirst
Publikováno v:
Neuromuscular Disorders. 18:816-817
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::24f69d2e6c2e6dea6d151d0fd5692f38
https://doi.org/10.1016/j.nmd.2008.06.319
https://doi.org/10.1016/j.nmd.2008.06.319