北京时间2024年12月11日，西湖大学、西湖实验室吴建平团队联合闫浈团队在Nature在线发表题为“Structure and assembly of the dystrophin glycoprotein ...

Duchenne muscular dystrophy (DMD) is one of the most common and devastating childhood genetic disorders, affecting ...

从微观领域，开发基因治疗方案也有了新线索。目前针对DMD患者的治疗手段非常有限，一种通用策略是通过基因治疗来修补功能异常的肌营养不良蛋白。但是，这个蛋白的基因是人体最长的基因之一，完整递送如此长的基因去替换致病基因十分困难。

最初出现轻微运动障碍，跑步、跳跃等动作变得吃力，后期逐渐出现无法行走、肢体无法正常抬起，需要借助轮椅行动，最终可能因呼吸衰竭或心力衰竭而死亡……这段描述描写的是，杜氏肌营养不良症患者的一生。杜氏肌营养不良症（Duchenne Muscular ...

Dystrophin and β-dystroglycan are components of the dystrophin–glycoprotein complex (DGC), a multimolecular assembly that spans the cell membrane and links the actin cytoskeleton to the ...

Indicated for patients with a confirmed mutation of the dystrophin gene amenable to exon 51 skipping, the drug could be used in around 13% of the disease population. Sarepta’s share price almost ...

EDO51, an investigational therapy for Duchenne muscular dystrophy (DMD), and is still ongoing in the United Kingdom.

Children born with the degenerative disease have a genetic mutation that stops them producing dystrophin, a protein that is vital for muscle strength and function. The same disorder also occurs in ...

The one-dose gene therapy – much like rivals from Pfizer and Solid Biosciences – codes for a shortened form of dystrophin that is deficient in patients with the X-linked muscle-wasting ...

Sarepta's exon-skipping treatments, EXONDYS 51, VYONDYS 53, and AMONDYS 45, are designed to skip specific exons in the dystrophin gene, enabling the production of a functional, albeit shortened, ...