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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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Bibliografiska uppgifter
I publikationen:Sci Rep
Huvudupphovsmän: Aung-Htut, May Thandar, Ham, Kristin A., Tchan, Michel, Johnsen, Russell, Schnell, Frederick J., Fletcher, Sue, Wilton, Steve D.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Nature Publishing Group UK 2020
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7174337/
https://ncbi.nlm.nih.gov/pubmed/32317649
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-63461-2
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