Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets

Leal, Andrés Felipe
Benincore-Flórez, Eliana
Rintz, Estera
Herreño-Pachón, Angélica María
Celik, Betul
Ago, Yasuhiko
Alméciga-Díaz, Carlos Javier
Tomatsu, Shunji
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International Journal of Molecular Sciences
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.
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endoplasmic reticulum , glycosaminoglycans , lysosome , mitochondria , mucopolysaccharidoses
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.