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GAA Deficiency in Pompe Disease Is Alleviated by Exon Inclusion in iPSC-Derived Skeletal Muscle Cells
Pompe disease is a metabolic myopathy caused by deficiency of the acid α-glucosidase (GAA) enzyme and results in progressive wasting of skeletal muscle cells. The c.-32-13T>G (IVS1) GAA variant promotes exon 2 skipping during pre-mRNA splicing and is the most common variant for the childhood/adul...
Zapisane w:
| Wydane w: | Mol Ther Nucleic Acids |
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| Główni autorzy: | , , , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
American Society of Gene & Cell Therapy
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5415960/ https://ncbi.nlm.nih.gov/pubmed/28624186 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.omtn.2017.03.002 |
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