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Dystroglycan: a possible mediator for reducing congenital muscular dystrophy?

Sciandra, Francesca; Gawlik, Kinga LU ; Brancaccio, Andrea and Durbeej-Hjalt, Madeleine LU (2007) In Trends in Biotechnology 25(6). p.262-268
Abstract
alpha-Dystroglycan is a highly glycosylated peripheral protein forming a complex with the membrane-spanning beta-dystroglycan and establishing a connection between the extracellular matrix and the cytoskeleton. In skeletal muscle, as part of the larger dystrophin-glycoprotein complex, dystroglycan is believed to be essential for maintaining the structural and functional stability of muscle fibers. Recent work highlights the role of abnormal dystroglycan glycosylation at the basis of glycosyltransferase-deficient congenital muscular dystrophies. Notably, modulation of glycosyltransferase activity can restore alpha-dystroglycan receptor function in these disorders. Moreover, transgenic approaches favoring the interaction between dystroglycan... (More)
alpha-Dystroglycan is a highly glycosylated peripheral protein forming a complex with the membrane-spanning beta-dystroglycan and establishing a connection between the extracellular matrix and the cytoskeleton. In skeletal muscle, as part of the larger dystrophin-glycoprotein complex, dystroglycan is believed to be essential for maintaining the structural and functional stability of muscle fibers. Recent work highlights the role of abnormal dystroglycan glycosylation at the basis of glycosyltransferase-deficient congenital muscular dystrophies. Notably, modulation of glycosyltransferase activity can restore alpha-dystroglycan receptor function in these disorders. Moreover, transgenic approaches favoring the interaction between dystroglycan and the extracellular matrix molecules also represent an innovative way to restore skeletal muscle structure. These pioneering approaches might comprise an important first step towards the design of gene-transfer-based strategies for the rescue of congenital muscular dystrophies involving dystroglycan. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Trends in Biotechnology
volume
25
issue
6
pages
262 - 268
publisher
Elsevier
external identifiers
  • wos:000247252200006
  • scopus:34248562605
ISSN
0167-7799
DOI
10.1016/j.tibtech.2007.04.002
language
English
LU publication?
yes
id
830b6860-5ab4-4216-b8b1-a083e20b4f23 (old id 648616)
date added to LUP
2007-12-18 09:37:05
date last changed
2017-01-01 05:13:02
@article{830b6860-5ab4-4216-b8b1-a083e20b4f23,
  abstract     = {alpha-Dystroglycan is a highly glycosylated peripheral protein forming a complex with the membrane-spanning beta-dystroglycan and establishing a connection between the extracellular matrix and the cytoskeleton. In skeletal muscle, as part of the larger dystrophin-glycoprotein complex, dystroglycan is believed to be essential for maintaining the structural and functional stability of muscle fibers. Recent work highlights the role of abnormal dystroglycan glycosylation at the basis of glycosyltransferase-deficient congenital muscular dystrophies. Notably, modulation of glycosyltransferase activity can restore alpha-dystroglycan receptor function in these disorders. Moreover, transgenic approaches favoring the interaction between dystroglycan and the extracellular matrix molecules also represent an innovative way to restore skeletal muscle structure. These pioneering approaches might comprise an important first step towards the design of gene-transfer-based strategies for the rescue of congenital muscular dystrophies involving dystroglycan.},
  author       = {Sciandra, Francesca and Gawlik, Kinga and Brancaccio, Andrea and Durbeej-Hjalt, Madeleine},
  issn         = {0167-7799},
  language     = {eng},
  number       = {6},
  pages        = {262--268},
  publisher    = {Elsevier},
  series       = {Trends in Biotechnology},
  title        = {Dystroglycan: a possible mediator for reducing congenital muscular dystrophy?},
  url          = {http://dx.doi.org/10.1016/j.tibtech.2007.04.002},
  volume       = {25},
  year         = {2007},
}