期刊
CURRENT OPINION IN NEUROLOGY
卷 24, 期 5, 页码 437-442出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1097/WCO.0b013e32834a95e3
关键词
animal models; congenital muscular dystrophies; dystroglycan; glycosylation; therapeutic strategies
资金
- Great Ormond Street Hospital Children's Charity
- AFM
- MDA
- Cure CMD
- NIH
- Medical Research Council [G0601943, G0200171] Funding Source: researchfish
- MRC [G0200171, G0601943] Funding Source: UKRI
Purpose of review Dystroglycanopathies are a common group of diseases characterized by a reduction in alpha-dystroglycan glycosylation. This review discusses the recent novel discovery of additional dystroglycanopathy variants and progress in dystroglycanopathy animal models. Recent findings Several novel glycosyltransferase genes have been found to be responsible for a dystroglycanopathy phenotype, and in addition recessive mutations in DAG1 have been identified for the first time in a primary dystroglycanopathy. Studies in dystroglycanopathy mouse models have clarified some aspects of the structural defects observed in the central nervous system and in the eye, whereas a study in zebrafish implicates unfolded protein response in the pathogenesis of two of the secondary dystroglycanopathies. Summary Improved understanding of the molecular bases of dystroglycanopathies will lead to more precise diagnosis and genetic counseling; therapeutic strategies are being developed and tested in the preclinical models and it is hoped that these observations will pave the way to therapeutic interventions in humans.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据