Title : Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.

Pub. Date : 2001 Feb 1

PMID : 11159948






1 Functional Relationships(s)
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1 Hurler syndrome is the most severe form of a lysosomal storage disease caused by loss of the enzyme alpha-L-iduronidase (encoded by the IDUA gene), which participates in the degradation of glycosaminoglycans (GAGs) within the lysosome. Glycosaminoglycans alpha-L-iduronidase Homo sapiens