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Article

Pharmacological read‐through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VI

12 Sept 2012

Abstract excerpt

Mucopolysaccharidosis type VI (MPS VI) is a severe lysosomal storage disorder without central nervous system involvement caused by arylsulfatase B (ARSB) deficiency. MPS VI is characterized by dysostosis multiplex, corneal clouding, heart valve defects and urinary excretion of glycosaminoglycans (GAGs). The current treatment for MPS VI is enzyme replacement therapy (ERT) which has limited efficacy on bone, joints...

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PMID: 22971959
DOI: 10.1007/s10545-012-9521-y

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