학술논문
Advances in Pathophysiology of Dystroglycanopathies and Its Treatment Strategies / ジストログリカン異常症の病態機序と治療戦略に関する進展
Document Type
Journal Article
Author
Source
Trends in Glycoscience and Glycotechnology. 2021, 33(195):105
Subject
Language
Japanese
ISSN
0915-7352
1883-2113
1883-2113
Abstract
Dystroglycanopathy is a group of muscular dystrophy caused by abnormal glycosylation of dystroglycan. Dystroglycan is a cell membrane receptor of basement membrane molecules and synaptic molecules. The sugar chain abnormalities result in the disruption of dystroglycan-mediated linkage between the basement and cell membrane in the skeletal muscle. The sugar chain structure and modifying enzymes of dystroglycan have recently been identified, and the pathophysiological significance of dystroglycan sugar chains in various tissues has also been clarified. This mini-review introduces the latest findings on the mechanisms of dystroglycanopathy and the development of various treatment strategies.