文章基本信息

标题：Dystroglycan and muscolar dystrophies related to the dystrophin-glycoprotein complex
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作者：Francesca Sciandra ; Manuela Bozzi ; Marzia Bianchi 等
期刊名称：Annali dell'Istituto Superiore di Sanita
印刷版ISSN：0021-2571
出版年度：2003
卷号：39
期号：02
出版社：Editrice Kurtis Srl
摘要：Summary. - Dystroglycan (DG) is an adhesion molecule composed of two subunits, α and β, that are produced by the post-translational cleavage of a single precursor molecule. DG is a pivotal component of the dystrophin-glycoprotein complex (DGC), which connects the extracellular matrix to the cytoskeleton in skeletal muscle and many other tissues. Some muscular dystrophies are caused by mutations of DGC components, such as dystrophin, sarcoglycan or laminin-2, or also of DGC-associated molecules, such as caveolin-3. DG-null mice died during early embriogenesis and no neuromuscular diseases directly associated to genetic abnormalities of DG were identified so far. However, DG plays a crucial role for muscle integrity since its targeting at the sarcolemma is often perturbed in DGC-related neuromuscular disorders.
关键词：Key words: dystroglycan, muscular dystrophy, dystrophin-glycoprotein complex.