Abstract
Mucopolysaccharidoses (MPSs) constitute a heterogeneous group of lysosomal storage disorders characterized by the lysosomal accumulation of glycosaminoglycans (GAGs). Although lysosomal dysfunction is mainly affected, several cellular organelles such as mitochondria, endoplasmic reticulum, Golgi apparatus, and their related process are also impaired, leading to the activation of pathophysiological cascades. While supplying missing enzymes is the mainstream for the treatment of MPS, including enzyme replacement therapy (ERT), hematopoietic stem cell transplantation (HSCT), or gene therapy (GT), the use of modulators available to restore affected organelles for recovering cell homeostasis may be a simultaneous approach. This review summarizes the current knowledge about the cellular consequences of the lysosomal GAGs accumulation and discusses the use of potential modulators that can reestablish normal cell function beyond ERT-, HSCT-, or GT-based alternatives.
Subject
Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis
Reference169 articles.
1. Advances in glycosaminoglycan detection;Khan;Mol. Genet. Metab.,2020
2. Fecarotta, S., Tarallo, A., Damiano, C., Minopoli, N., and Parenti, G. (2020). Pathogenesis of Mucopolysaccharidoses, an Update. Int. J. Mol. Sci., 21.
3. Systems biology study of mucopolysaccharidosis using a human metabolic reconstruction network;Salazar;Mol. Genet. Metab.,2016
4. Heparan sulfate proteoglycans: The sweet side of development turns sour in mucopolysaccharidoses;Pavone;Biochim. Biophys. Acta (BBA)-Mol. Basis Dis.,2019
5. Stepien, K.M., Roncaroli, F., Turton, N., Hendriksz, C.J., Roberts, M., Heaton, R.A., and Hargreaves, I. (2020). Mechanisms of Mitochondrial Dysfunction in Lysosomal Storage Disorders: A Review. J. Clin. Med., 9.
Cited by
22 articles.
订阅此论文施引文献
订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献