Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets
Date
2022-12-28
Journal Title
Journal ISSN
Volume Title
Publisher
International Journal of Molecular Sciences
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.
Description
This article was originally published in International Journal of Molecular Sciences. The version of record is available at: https://doi.org/10.3390/ijms24010477
Keywords
endoplasmic reticulum, glycosaminoglycans, lysosome, mitochondria, mucopolysaccharidoses
Citation
Leal, Andrés Felipe, Eliana Benincore-Flórez, Estera Rintz, Angélica María Herreño-Pachón, Betul Celik, Yasuhiko Ago, Carlos Javier Alméciga-Díaz, and Shunji Tomatsu. 2023. "Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets" International Journal of Molecular Sciences 24, no. 1: 477. https://doi.org/10.3390/ijms24010477