... dephosphorylation. SMAD TGF-β receptor Tissue non-specific alkaline phosphatase ALPL Striated muscle fibrosis Cardiac hypertrophy Muscular dystrophy British Heart Foundation 10.13039/501100000274 PG/14/1/30549 Biotechnology and Biological Sciences Research Council 10.13039...

... muscle; however, its physiological mode of action is unknown. Mutations in the DYSF gene lead to autosomal recessive limb-girdle muscular dystrophy type 2B and Miyoshi myopathy. Here, we show that dysferlin has membrane tubulating capacity and that it shapes the T-tubule system. Dysferlin tubulates...

...Noam Zuela; Monika Zwerger; Tal Levin; Ohad Medalia; Yosef Gruenbaum ABSTRACT There are roughly 14 distinct heritable autosomal dominant diseases associated with mutations in lamins A/C, including Emery–Dreifuss muscular dystrophy (EDMD). The mechanical model proposes that the lamin mutations...

... are crucial for muscle development and functionality. We aim to determine whether mutations of the LMNA gene (which encodes lamin A/C) causing congenital muscular dystrophy impair the ability of muscle precursors to sense tissue stiffness and to respond to mechanical challenge. We found that LMNA -mutated...

[email protected] ) 27 03 2013 © 2013. Published by The Company of Biologists Ltd 2013 Muscle satellite cell microRNA Cell proliferation Insulin signalling Muscular dystrophy Skeletal muscle has the ability to regenerate following injury or disease. Muscle regeneration is mediated...

...Alexandros Xynos; Maria Victoria Neguembor; Roberta Caccia; Danilo Licastro; Alessandro Nonis; Clelia Di Serio; Elia Stupka; Davide Gabellini Summary Overexpression of facioscapulohumeral muscular dystrophy region gene 1 ( FRG1 ) in mice, frogs and worms leads to muscular and vascular abnormalities...

... is needed for efficient myelination. * These authors contributed equally to this work ‡ Author for correspondence ( [email protected] ) 7 6 2012 © 2012. Published by The Company of Biologists Ltd 2012 Peripheral neuropathy Muscular dystrophy Basement membrane Axonal...

...Zhao Bo Li; Jiangyang Zhang; Kathryn R. Wagner Summary Skeletal muscle fibrosis is a defining feature of the muscular dystrophies in which contractile myofibers are replaced by fibroblasts, adipocytes and extracellular matrix. This maladaptive response of muscle to repetitive injury is progressive...

... ). This idea is supported by findings that skeletal muscle from patients with Emery–Dreifuss muscular dystrophy (EDMD) and mouse models of the disease contain fragmented nuclei ( Arimura et al., 2005 ; Fidziańska and Hausmanowa-Petrusewicz, 2003 ; Fidziańska et al., 1998 ; Markiewicz et al., 2002b...

... and collagen type-I-producing cells (fibrosis) is observed in muscular dystrophies. The origin of these cells had been largely unknown, but recently we identified mesenchymal progenitors positive for platelet-derived growth factor receptor alpha (PDGFRα) as the origin of adipocytes in skeletal muscle. However...

...Jinger A. Doe; Ryan D. Wuebbles; Erika T. Allred; Jachinta E. Rooney; Margaret Elorza; Dean J. Burkin Merosin-deficient congenital muscular dystrophy 1A (MDC1A) is a devastating neuromuscular disease that results in children being confined to a wheelchair, requiring ventilator assistance to breathe...

...Qian Liu; Takako Iida Jones; Vivian W. Tang; William M. Brieher; Peter L. Jones In vertebrates, overexpression of facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) recapitulates the pathophysiology exhibited by FSHD patients, although the role of FRG1 in FSHD remains controversial...

... Muscular dystrophy Nedd8 Obscurin Sarcoplasmic reticulum It has long been known that the myofibrils of striated muscle cells are linked via an intricate filamentous network to the cell membranes ( Clark et al., 2002 ; Pierobon-Bormioli et al., 1981 ). Recently, it emerged that complex...

...Marvin E. Adams; Yan Tesch; Justin M. Percival; Douglas E. Albrecht; Jay I. Conhaim; Kendra Anderson; Stanley C. Froehner α-Dystrobrevin associates with and is a homologue of dystrophin, the protein linked to Duchenne and Becker muscular dystrophies. We used a transgenic approach to restore α...

.... Sarcospan transgenic mice with moderate (tenfold) levels of sarcospan overexpression exhibit a severe phenotype that is similar to mouse models of laminin-deficient congenital muscular dystrophy (MD). Sarcospan transgenic mice display severe kyphosis and die prematurely between 6 and 10 weeks of age...

...Clara Sciorati; Beatriz G. Galvez; Silvia Brunelli; Enrico Tagliafico; Stefano Ferrari; Giulio Cossu; Emilio Clementi Muscular dystrophies are characterized by primary wasting of skeletal muscle for which no satisfactory therapy is available. Studies in animal models have shown that stem cell-based...

... following ischemia and can restore significantly dystrophin expression in mdx mice. 2 5 2006 © The Company of Biologists Limited 2006 2006 Adipose tissue Myogenic differentiation Cell transplantation Muscular dystrophy Several in vivo observations have also suggested...

...Jachinta E. Rooney; Jennifer V. Welser; Melissa A. Dechert; Nichole L. Flintoff-Dye; Stephen J. Kaufman; Dean J. Burkin The dystrophin glycoprotein complex links laminin in the extracellular matrix to the cell cytoskeleton. Loss of dystrophin causes Duchenne muscular dystrophy, the most common...

...Luke M. Judge; Miki Haraguchiln; Jeffrey S. Chamberlain Duchenne muscular dystrophy is a severe disorder caused by mutations in the dystrophin gene. Dystrophin is required for assembly of the dystrophin-glycoprotein complex and provides a mechanically strong link between the cytoskeleton...

... known cause of limb-girdle muscular dystrophy. Previous findings of apoptosis from γSG-deficient mice are extended here to cell culture where apoptosis is seen to increase more than tenfold in γSG-deficient myotubes compared with normal cells. The deficient myotubes also exhibit an increased contractile...