Duchenne muscular dystrophy is a severe, progressive, muscle-wasting disease that leads to difficulties with movement and, eventually, to the need for assisted ventilation and premature death. The disease is caused by mutations in DMD (encoding dystrophi
Duchenne muscular dystrophydoi:10.1038/s41572-021-00255-4This PrimeView highlights the treatment of Duchenne muscular dystrophy, a genetic disorder that is caused by mutations inDMDthat prevent production of the muscle isoform of dystrophin.Nature Publishing Group UKNature Reviews Disease Primers...
Duchenne muscular dystrophy (DMD) is caused by pathogenic variants in the X-linkedDMDgene, leading to an absence of functional dystrophin and continuous muscle damage, beginning from birth1. Impaired motor function can be observed by the age of 3 years and typically progresses to loss of ambul...
Duchenne muscular dystrophy (DMD) is caused by the lack of functional dystrophin protein. Improvements in patient care and disease management have slowed down disease progression, but current treatments cannot stop the relentless loss of muscle tissue an
据中科博生了解,加州大学洛杉矶分校(UCLA)的科学家开发了一种有效分离、成熟和移植人类多能干细胞生成骨骼肌细胞的新策略。这项研究为杜氏肌营养不良(Duchenne Muscular Dystrophy)等肌肉疾病的干细胞替代疗…
More information:Yuan Zhou et al, Systemic delivery of full-length dystrophin in Duchenne muscular dystrophy mice,Nature Communications(2024).DOI: 10.1038/s41467-024-50569-6
Duchenne muscular dystrophy (DMD) is a severe form of muscular dystrophy without an effective treatment, caused by mutations in the DMD gene, leading to the absence of dystrophin. DMD results in muscle weakness, loss of ambulation, and death at an early age. Metabolomics studies in mdx mice,...
1988. The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature (Lond.). 333:466--469.Zubrzycka-Gaam EE, Bulman DE, Karpati G, Burghes AHM, Belfall B, Klamut HJ, Talbot J, Hodges RS, Ray PN, Worton RG. The Duchenne muscular dystrophy ...
Duchenne型肌营养不良(Duchenne muscular dystrophy,DMD)是一种常见的X连锁隐性遗传的致死性肌肉变性疾病,发病率为1/3 500活产男婴[1]。一般3～5岁起病,7～13岁丧失独立行走能力,20～25岁死于呼吸道感染、心力衰竭或消耗性疾病[2]。其发病是由位于X染色体上p21.2区域的dystrophin基因缺陷引起dystrophin蛋白的缺乏所致...
Spatial transcriptomics reveal markers of histopathological changes in Duchenne muscular dystrophy mouse models Nature communications; IF:16.600; DOI: 10.1038/s41467-023-40555-9 内容概要:使用空间转录组学技术,研究了两种不同疾病严重程度的Duchenne肌肉萎缩症小鼠模型,发现Myl4、Sparc、Hspg2等基因在肌肉再生区域...