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Mucopolysaccharidosis IVA: Current Disease Models and Drawbacks

9 Nov 2023

Abstract excerpt

) 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...

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PMID: 38003337
DOI: 10.3390/ijms242216148

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