Mucopolysaccharidoses are inherited disorders in which inactivation of lysosomal enzymes results in accumulation of glycosaminoglycans within cells, causing tissue and organ dysfunction. A method to determine the unique end structures of the accumulated glycosaminoglycans offers a new way for diagnosis.
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References
Freeze, H.H. Genetic disorders of glycan degradation. in Essentials of Glycobiology (eds. Varki, A. et al.) 567–583 (Cold Spring Harbor Laboratory Press, 2009)
Neufeld, E.F. & Muenzer, J. The mucopolysaccharidoses. in The Metabolic and Molecular Bases of Inherited Disease Vol. 3 (eds. Scriver, C.R., Beaudet, A.L., Sly, W.S. & Valle, D.) (McGraw-Hill, 2001).
Hemsley, K.M. & Hopwood, J.J. J. Inherit. Metab. Dis. 34, 1003–1012 (2011).
Lawrence, R. et al. Nat. Chem. Biol. 8, 197–204 (2011).
Lawrence, R. et al. J. Biol. Chem. 283, 33674–33684 (2008).
Kreuger, J., Spillmann, D., Li, J.P. & Lindahl, U. J. Cell Biol. 174, 323–327 (2006).
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Kjellén, L. Enzyme deficiencies deciphered. Nat Chem Biol 8, 137–138 (2012). https://doi.org/10.1038/nchembio.778
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DOI: https://doi.org/10.1038/nchembio.778