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Human Development of the National Institutes of Health (NICHD)","award":["20386"],"award-info":[{"award-number":["20386"]}]},{"name":"National Institute of Child Health &amp; Human Development of the National Institutes of Health (NICHD)","award":["20646"],"award-info":[{"award-number":["20646"]}]},{"name":"National Institute of Child Health &amp; Human Development of the National Institutes of Health (NICHD)","award":["20567"],"award-info":[{"award-number":["20567"]}]},{"name":"National Institute of Child Health &amp; Human Development of the National Institutes of Health (NICHD)","award":["9630"],"award-info":[{"award-number":["9630"]}]},{"name":"National Institute of Child Health &amp; Human Development of the National Institutes of Health (NICHD)","award":["CT-499-2021"],"award-info":[{"award-number":["CT-499-2021"]}]},{"name":"National Institute of Child Health &amp; Human Development of the National Institutes of Health (NICHD)","award":["9507"],"award-info":[{"award-number":["9507"]}]},{"name":"National Institute of Child Health &amp; Human Development of the National 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>Mucopolysaccharidosis IVA (MPS IVA) is a rare disorder caused by mutations in the N-acetylgalactosamine-6-sulfate-sulfatase (GALNS) encoding gene. GALNS leads to the lysosomal degradation of the glycosaminoglyccreasans keratan sulfate and chondroitin 6-sulfate. Impaired GALNS enzymes result in skeletal and non-skeletal complications in patients. For years, the MPS IVA pathogenesis and the assessment of promising drugs have been evaluated using in vitro (primarily fibroblasts) and in vivo (mainly mouse) models. Even though value information has been raised from those studies, these models have several limitations. For instance, chondrocytes have been well recognized as primary cells affected in MPS IVA and responsible for displaying bone development impairment in MPS IVA patients; nonetheless, only a few investigations have used those cells to evaluate basic and applied concepts. Likewise, current animal models are extensively represented by mice lacking GALNS expression; however, it is well known that MPS IVA mice do not recapitulate the skeletal dysplasia observed in humans, making some comparisons difficult. This manuscript reviews the current in vitro and in vivo MPS IVA models and their drawbacks.<\/jats:p>","DOI":"10.3390\/ijms242216148","type":"journal-article","created":{"date-parts":[[2023,11,10]],"date-time":"2023-11-10T01:17:51Z","timestamp":1699579071000},"page":"16148","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks"],"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":"Nemours Children\u2019s Health, Wilmington, DE 19803, USA"},{"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\/0000-0001-6484-1173","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":[[2023,11,9]]},"reference":[{"key":"ref_1","first-page":"282","article-title":"Molecular Modeling and Phenotypic Description of a Patient with a Novel Exonic Deletion of GALNS with Resultant Morquio Syndrome with Two Successful Pregnancies","volume":"13","author":"Selvam","year":"2022","journal-title":"Mol. 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