Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets
| Author(s) | Leal, Andrés Felipe | |
| Author(s) | Benincore-Flórez, Eliana | |
| Author(s) | Rintz, Estera | |
| Author(s) | Herreño-Pachón, Angélica María | |
| Author(s) | Celik, Betul | |
| Author(s) | Ago, Yasuhiko | |
| Author(s) | Alméciga-Díaz, Carlos Javier | |
| Author(s) | Tomatsu, Shunji | |
| Date Accessioned | 2023-03-08T21:48:57Z | |
| Date Available | 2023-03-08T21:48:57Z | |
| Publication Date | 2022-12-28 | |
| 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 | |
| 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. | |
| Sponsor | A.F.L. received a doctoral scholarship from Pontificia Universidad Javeriana. C.J.A.-D. is supported by the Ministerio de Ciencia, Tecnología e Innovación, Colombia (Contract 120380763212, ID 8352), Pontificia Universidad Javeriana (ID 20289, 20567, and 20300), the National MPS Society (ID 9509), and the Institute for the Study of Inborn Errors of Metabolism (activity 120289301011ZZ). This work was also supported by grants from the Austrian MPS society, A Cure for Robert, 736 Inc, The Carol Ann Foundation, Angelo R. Cali & Mary V. Cali Family Foundation, Inc., The 737 Vain and Harry Fish Foundation, Inc., The Bennett Foundation, Jacob Randall Foundation, and 738 Nemours Funds. S.T. was supported by an Institutional Development Award from the Eunice 739 Kennedy Shriver National Institute of Child Health & Human Development of the National 740 Institutes of Health (NICHD) (1R01HD102545-01A1). | |
| 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 | |
| ISSN | 1422-0067 | |
| URL | https://udspace.udel.edu/handle/19716/32395 | |
| Language | en_US | |
| Publisher | International Journal of Molecular Sciences | |
| Keywords | endoplasmic reticulum | |
| Keywords | glycosaminoglycans | |
| Keywords | lysosome | |
| Keywords | mitochondria | |
| Keywords | mucopolysaccharidoses | |
| Title | Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets | |
| Type | Article |
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