Article
Glycosaminoglycans and mucopolysaccharidosis type III.
Frontiers in bioscience (Landmark edition) - 1 Jun 2016
Jakobkiewicz-Banecka Joanna, Gabig-Ciminska Magdalena, Kloska Anna, Malinowska Marcelina, Piotrowska Ewa, Banecka-Majkutewicz Zyta, Banecki Bogdan, Wegrzyn Alicja, Wegrzyn Grzegorz
Abstract excerpt
Mucopolysaccharidosis type III (MPS III), or Sanfilippo syndrome, is a lysosomal storage disease in which heparan sulfate is accumulated in lysosomes, as well as outside of cells, as the primary storage material. This disease is a complex of four conditions caused by dysfunctions of one of genes coding for lysosomal enzymes involved in degradation of heparan sulfate: SGSH (coding for heparan N-sulfatase) -...
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