Arylsulfatase K inactivation causes mucopolysaccharidosis due to deficient glucuronate desulfation of heparan and chondroitin sulfate

Mucopolysaccharidoses comprise a group of rare metabolic diseases, in which the lysosomal degradation of glycosaminoglycans (GAGs) is impaired due to genetically inherited defects of lysosomal enzymes involved in GAG catabolism. The resulting intralysosomal accumulation of GAG-derived metabolites co...

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Detalhes bibliográficos
Publicado no:Biochem J
Main Authors: Trabszo, Christof, Ramms, Bastian, Chopra, Pradeep, Lüllmann-Rauch, Renate, Stroobants, Stijn, Sproß, Jens, Jeschke, Anke, Schinke, Thorsten, Boons, Geert-Jan, Esko, Jeffrey D., Lübke, Torben, Dierks, Thomas
Formato: Artigo
Idioma:Inglês
Publicado em: 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8261863/
https://ncbi.nlm.nih.gov/pubmed/32856704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1042/BCJ20200546
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