The expression of caveolin-3 and its related limb girdle muscular dystrophy 1-c mutants in myoblasts: Physiological and pathological aspects

被引：0

作者：

Fanzani, A. ^{[1
]}

Stoppani, E. ^{[1
]}

Musaro, A. ^{[2
]}

Giuliani, R. ^{[1
]}

Colombo, F. ^{[1
]}

Rossi, S. ^{[1
]}

Preti, A. ^{[1
]}

Marchesini, S. ^{[1
]}

机构：

[1] Univ Brescia, Dept Biomed Sci & Biotechnol, Brescia, Italy

[2] Univ Roma La Sapienza, CE BEMM & Interuniv Inst Myol, Dept Histol & Med Embryol, Rome, Italy

来源：

NEUROMUSCULAR DISORDERS | 2007年 / 17卷 / 9-10期

关键词：

D O I：

10.1016/j.nmd.2007.06.176

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：813 / 813

页数：1

共 25 条

[11] Molecular pathogenesis of caveolin-3-related limb-girdle muscular dystrophy
Coraspe, J. Gonzalez
Hathazi, D.
Lochmueller, H.
Carr, S.
Sunada, Y.
Weis, J.
Roos, A.
NEUROMUSCULAR DISORDERS, 2017, 27 : S140 - S141
[12] Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy
Mueller, Juliane S.
Piko, Henriett
Schoser, Benedikt G. H.
Schlotter-Weigel, Beate
Reilich, Peter
Guerster, Stefanie
Born, Christine
Karcagi, Veronika
Pongratz, Dieter
Lochmueller, Hanns
Walter, Maggie C.
NEUROMUSCULAR DISORDERS, 2006, 16 (07) : 432 - 436
[13] Mutation screening of caveolin-3 and myotilin in autosomal dominant limb girdle muscular dystrophy and other dominant myopathies.
Dancel, RD
Stajich, JM
Vance, JM
Pricak-Vance, MA
Gaskell, PC
Gilchrist, JM
Tim, RW
Speer, MC
Hauser, MA
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[14] A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes
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Eby, JC
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JOURNAL OF CELL SCIENCE, 2003, 116 (23) : 4739 - 4749
[15] Phenotypic behavior of C2C12 myoblasts upon expression of the dystrophy-related caveolin-3 P104L and TFT mutants
Fanzani, Alessandro
Stoppani, Elena
Gualandi, Laura
Giuliani, Roberta
Galbiati, Ferruccio
Rossi, Stefania
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Preti, Augusto
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FEBS LETTERS, 2007, 581 (26) : 5099 - 5104
[16] Coexistence of rippling muscle disease and limb girdle muscular dystrophy in a family with a novel autosomal dominant caveolin-3 gene mutation
Cagliani, R
Gallanti, A
Sironi, M
Ciscato, P
Cardin, V
Bardoni, A
Galbiati, S
Chiveri, L
Corti, S
Prelle, A
Moggio, M
Bresolin, N
Comi, GP
NEUROMUSCULAR DISORDERS, 2002, 12 (7-8) : 722 - 723
[17] The Role of Integrin β1D Mislocalization in the Pathophysiology of Calpain 3-Related Limb-Girdle Muscular Dystrophy
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Ruiz-Roldan, Cristina
Immanuel, Jenita
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CELLS, 2025, 14 (06)
[18] Unusual expression of laminin B1 in 3 patients with adult onset, limb-girdle muscular dystrophy (LGMD)
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NEUROLOGY, 1997, 48 (03) : 21006 - 21006
[19] Allosteric Modulation of GSK-3β as a New Therapeutic Approach in Limb Girdle Muscular Dystrophy R1 Calpain 3-Related
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INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2021, 22 (14)
[20] Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
Brockington, M
Yuva, Y
Prandini, P
Brown, SC
Torelli, S
Benson, MA
Herrmann, R
Anderson, LVB
Bashir, R
Burgunder, JM
Fallet, S
Romero, N
Fardeau, M
Straub, V
Storey, G
Pollitt, C
Richard, I
Sewry, CA
Bushby, K
Voit, T
Blake, DJ
Muntoni, F
HUMAN MOLECULAR GENETICS, 2001, 10 (25) : 2851 - 2859

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