期刊
NATURE CLINICAL PRACTICE NEUROLOGY
卷 2, 期 4, 页码 222-230出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncpneuro0155
关键词
dystroglycan; glycosylation; laminin; lissencephaly; neuromuscular junction; skeletal muscle
资金
- NIAMS NIH HHS [R01 AR050202, R01 AR049722-02, R01 AR049722, R01 AR050202-02] Funding Source: Medline
Recent studies have defined a group of muscular dystrophies, now termed the dystroglycanopathies, as novel disorders of glycosylation. These conditions include Walker - Warburg syndrome, muscle - eye - brain disease, Fukuyama-type congenital muscular dystrophy, congenital muscular dystrophy types 1C and 1D, and limb-girdle muscular dystrophy type 2I. Although clinical findings can be highly variable, dystroglycanopathies are all characterized by cortical malformations and ocular defects at the more severe end of the clinical spectrum, in addition to muscular dystrophy. All of these disorders are defined by the underglycosylation of alpha-dystroglycan. Defective glycosylation of dystroglycan severs the link between this important cell adhesion molecule and the extracellular matrix, thereby contributing to cellular pathology. Recent experiments indicate that glycosylation might not only define forms of muscular dystrophy but also provide an avenue to the development of therapies for these disorders.
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