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Updated: Jun 9, 2026

Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy

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Published on: May 24, 2016

Genetic defects in muscular dystrophy.

Kumaran Chandrasekharan¹, Paul T Martin

¹Center for Gene Therapy, The Research Institute at Nationwide Children's Hospital, and Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.

Methods in Enzymology

|September 7, 2010

Summary

This summary is machine-generated.

Muscular dystrophies involve muscle wasting and weakness. Altered glycosylation of alpha-dystroglycan is linked to muscular dystrophy, offering potential therapeutic targets.

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Area of Science:

Biochemistry
Genetics
Neurology

Background:

Muscular dystrophies are neuromuscular disorders causing muscle weakness, wasting, and often premature death.
Many forms involve defects in proteins maintaining muscle membrane integrity, particularly the dystrophin-associated glycoprotein (DAG) complex.
O-linked mannose glycosylation of alpha-dystroglycan is crucial for extracellular matrix binding and DAG complex function.

Purpose of the Study:

To review available mouse models for studying muscular dystrophies linked to glycosylation defects.
To outline methodologies for characterizing disease phenotypes in these models.

Main Methods:

Review of existing literature on mouse models of muscular dystrophy and glycosylation disorders.
Description of phenotyping techniques relevant to neuromuscular function and muscle integrity.

Main Results:

Congenital disorders of glycosylation (CDGs) with altered alpha-dystroglycan glycosylation present with muscular dystrophy as a primary phenotype.
Glycosylation is recognized as a genetic modifier in various muscular dystrophies.
Mouse models are essential tools for understanding disease mechanisms and testing therapeutic strategies.

Conclusions:

Altered alpha-dystroglycan glycosylation is a key feature in certain muscular dystrophies.
Glycosylation represents a promising target for developing novel therapeutic interventions.
Comprehensive phenotyping in relevant mouse models is critical for advancing research in this field.