法布瑞氏症相关蛋白：从病理学治疗。
Fukutin-Related Protein: From Pathology to Treatments.
机构信息
Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN, USA; Department of Integrative Biology and Physiology, University of Minnesota, Minneapolis, MN, USA.
Lillehei Heart Institute, Department of Medicine, University of Minnesota, Minneapolis, MN, USA.
出版信息
Trends Cell Biol. 2021 Mar;31(3):197-210. doi: 10.1016/j.tcb.2020.11.003. Epub 2020 Dec 1.
Abstract
Fukutin-related protein (FKRP) is a glycosyltransferase involved in the functional glycosylation of α-dystroglycan (DG), a key component in the link between the cytoskeleton and the extracellular matrix (ECM). Mutations in FKRP lead to dystroglycanopathies with broad severity, including limb-girdle and congenital muscular dystrophy. Studies over the past 5 years have elucidated the function of FKRP, which has expanded the number of therapeutic opportunities for patients carrying FKRP mutations. These include small molecules, gene delivery, and cell therapy. Here we summarize recent findings on the function of FKRP and describe available models for studying diseases and testing therapeutics. Lastly, we highlight preclinical studies that hold potential for the treatment of FKRP-associated dystroglycanopathies.
摘要
与福-克通相关蛋白（FKRP）是一种糖基转移酶，参与 α- 肌营养不良聚糖（DG）的功能糖基化，后者是细胞骨架与细胞外基质（ECM）之间的关键连接成分。FKRP 突变导致肌营养不良聚糖病的严重程度广泛，包括肢带型和先天性肌营养不良。过去 5 年来的研究阐明了 FKRP 的功能，为携带 FKRP 突变的患者提供了更多的治疗机会。这些治疗方法包括小分子药物、基因传递和细胞治疗。本文总结了 FKRP 功能的最新发现，并描述了用于研究疾病和测试治疗方法的现有模型。最后，我们强调了具有治疗 FKRP 相关肌营养不良聚糖病潜力的临床前研究。
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