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

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 (GA...

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Detalles Bibliográficos
Autores principales: Bartolomeo, Rosa, Polishchuk, Elena V., Volpi, Nicola, Polishchuk, Roman S., Auricchio, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2012
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590409/
https://www.ncbi.nlm.nih.gov/pubmed/22971959
http://dx.doi.org/10.1007/s10545-012-9521-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3590409/
https://www.ncbi.nlm.nih.gov/pubmed/22971959
http://dx.doi.org/10.1007/s10545-012-9521-y

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