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Human Development of the National 740 Institutes of Health (NICHD)","award":["120289301011ZZ"],"award-info":[{"award-number":["120289301011ZZ"]}]},{"name":"Institutional Development Award from the Eunice 739 Kennedy Shriver National Institute of Child Health &amp; Human Development of the National 740 Institutes of Health (NICHD)","award":["1R01HD102545-01A1"],"award-info":[{"award-number":["1R01HD102545-01A1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/ijms24010477","type":"journal-article","created":{"date-parts":[[2022,12,28]],"date-time":"2022-12-28T05:42:48Z","timestamp":1672206168000},"page":"477","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":60,"title":["Mucopolysaccharidoses: Cellular Consequences of Glycosaminoglycans Accumulation and Potential Targets"],"prefix":"10.3390","volume":"24","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5956-1986","authenticated-orcid":false,"given":"Andr\u00e9s Felipe","family":"Leal","sequence":"first","affiliation":[{"name":"Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogot\u00e1 110231, Colombia"},{"name":"Nemours Children\u2019s Health, Wilmington, DE 19803, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eliana","family":"Benincore-Fl\u00f3rez","sequence":"additional","affiliation":[{"name":"Nemours Children\u2019s Health, Wilmington, DE 19803, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4941-766X","authenticated-orcid":false,"given":"Estera","family":"Rintz","sequence":"additional","affiliation":[{"name":"Nemours Children\u2019s Health, Wilmington, DE 19803, USA"},{"name":"Department of Molecular Biology, Faculty of Biology, University of Gdansk, 80-308 Gdansk, Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang\u00e9lica Mar\u00eda","family":"Herre\u00f1o-Pach\u00f3n","sequence":"additional","affiliation":[{"name":"Nemours Children\u2019s Health, Wilmington, DE 19803, USA"},{"name":"Faculty of Arts and Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0379-8076","authenticated-orcid":false,"given":"Betul","family":"Celik","sequence":"additional","affiliation":[{"name":"Nemours Children\u2019s Health, Wilmington, DE 19803, USA"},{"name":"Faculty of Arts and Sciences, University of Delaware, Newark, DE 19716, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5307-3658","authenticated-orcid":false,"given":"Yasuhiko","family":"Ago","sequence":"additional","affiliation":[{"name":"Nemours Children\u2019s Health, Wilmington, DE 19803, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6484-1173","authenticated-orcid":false,"given":"Carlos Javier","family":"Alm\u00e9ciga-D\u00edaz","sequence":"additional","affiliation":[{"name":"Institute for the Study of Inborn Errors of Metabolism, Faculty of Science, Pontificia Universidad Javeriana, Bogot\u00e1 110231, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0673-2160","authenticated-orcid":false,"given":"Shunji","family":"Tomatsu","sequence":"additional","affiliation":[{"name":"Nemours Children\u2019s Health, Wilmington, DE 19803, USA"},{"name":"Faculty of Arts and Sciences, University of Delaware, Newark, DE 19716, USA"},{"name":"Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu 501-1193, Japan"},{"name":"Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA 19144, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1016\/j.ymgme.2020.03.004","article-title":"Advances in glycosaminoglycan detection","volume":"130","author":"Khan","year":"2020","journal-title":"Mol. 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