Splice modulating antisense oligonucleotides restore some acid-alpha-glucosidase activity in cells derived from patients with late-onset Pompe disease

Pompe disease is caused by mutations in the GAA gene, resulting in deficient lysosomal acid-α-glucosidase activity in patients, and a progressive decline in mobility and respiratory function. Enzyme replacement therapy is one therapeutic option, but since not all patients respond to this treatment,...

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Detalles Bibliográficos
Autores principales: Aung-Htut, May Thandar, Ham, Kristin A., Tchan, Michel, Johnsen, Russell, Schnell, Frederick J., Fletcher, Sue, Wilton, Steve D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174337/
https://www.ncbi.nlm.nih.gov/pubmed/32317649
http://dx.doi.org/10.1038/s41598-020-63461-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174337/
https://www.ncbi.nlm.nih.gov/pubmed/32317649
http://dx.doi.org/10.1038/s41598-020-63461-2

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