Glycobiology of neuromuscular disorders.

Abstract:

:There has been a recent explosion in the identification of neuromuscular diseases caused by mutations in genes that affect carbohydrate metabolism or protein glycosylation. A number of these findings relate to defects in the glycosylation of alpha dystroglycan. Alpha dystroglycan is an essential component of the dystrophin-glycoprotein complex, and aberrant glycosylation of alpha dystroglycan is associated with multiple forms of muscular dystrophy in mice and humans. We review the evidence that defects in dystroglycan glycosylation cause muscular dystrophy. In addition, we review evidence that glycobiology is important in other disorders that affect muscle, including hereditary inclusion body myopathy type II and congenital disorders of glycosylation. Finally, we discuss the long-term potential of glycotherapies for muscle disorders.

journal_name

Glycobiology

journal_title

Glycobiology

authors

Martin PT,Freeze HH

doi

10.1093/glycob/cwg077

subject

Has Abstract

pub_date

2003-08-01 00:00:00

pages

67R-75R

issue

8

eissn

0959-6658

issn

1460-2423

pii

cwg077

journal_volume

13

pub_type

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