Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois 60611-4296; email:
Annu Rev Med. 2017 Jan 14;68:445-458. doi: 10.1146/annurev-med-050715-104432.
Several proteins that are mutated in lysosomal storage diseases are linked to neurodegenerative disease. This review focuses on some of these lysosomal enzymes and transporters, as well as current therapies that have emerged from the lysosomal storage disease field. Given the deeper genetic understanding of lysosomal defects in neurodegeneration, we explore why some of these orphan disease drug candidates are also attractive targets in subpopulations of individuals with neurodegenerative disease.
几种在溶酶体贮积病中发生突变的蛋白质与神经退行性疾病有关。这篇综述重点介绍了其中一些溶酶体酶和转运蛋白,以及溶酶体贮积病领域出现的现有治疗方法。鉴于对神经退行性变中溶酶体缺陷的更深入遗传理解,我们探讨了为什么这些孤儿病药物候选物在具有神经退行性疾病的个体的亚群中也是有吸引力的靶标。