Dystroglycan: a possible mediator for reducing congenital muscular dystrophy?

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Dystroglycan: a possible mediator for reducing congenital muscular dystrophy? / Sciandra, Francesca; Gawlik, Kinga; Brancaccio, Andrea; Durbeej-Hjalt, Madeleine.

In: Trends in Biotechnology, Vol. 25, No. 6, 2007, p. 262-268.

Research output: Contribution to journalReview article

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TY - JOUR

T1 - Dystroglycan: a possible mediator for reducing congenital muscular dystrophy?

AU - Sciandra,Francesca

AU - Gawlik,Kinga

AU - Brancaccio,Andrea

AU - Durbeej-Hjalt,Madeleine

PY - 2007

Y1 - 2007

N2 - 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.

AB - 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.

U2 - 10.1016/j.tibtech.2007.04.002

DO - 10.1016/j.tibtech.2007.04.002

M3 - Review article

VL - 25

SP - 262

EP - 268

JO - Trends in Biotechnology

T2 - Trends in Biotechnology

JF - Trends in Biotechnology

SN - 0167-7799

IS - 6

ER -