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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發表在: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
格式: Artigo
語言:Inglês
出版: 2020
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Article
在線閱讀: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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