To date, variants in genes involved in transcription regulation, chromatin remodelling, α-dystroglycan glycosylation, cytoskeleton and scaffolding protein, RNA splicing, and the MAP kinase signalling ...

肢带型肌营养不良（LGMD）多为隐性遗传，如 LGMD2I 由 FKRP 基因突变导致 α-dystroglycan 糖基化异常，肌肉与基底膜连接减弱。 创新发现：2024 年《Cell》子刊报道，部分肌营养不良患者存在线粒体 DNA 与核基因的交互突变，线粒体能量代谢障碍加剧肌肉损伤，提示「 ...

Neonatal hypoxic-ischemic (HI) brain injury is one of the leading causes of long-term neurological morbidity in newborns. Current treatment options for HI brain injury are limited, but mesenchymal ...

Upregulation of the interacting proteins α-dystroglycan (DAG1) and beta-1,4-glucuronyltransferase 1 (B4GAT1) were associated with clinical improvement in HFMSE scores. These proteins have been ...