Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells.
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| Title: | Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells. |
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| Authors: | Thomas R; n-Lorem Foundation, Carlsbad, CA 92010, United States., Miyoshi E; n-Lorem Foundation, Carlsbad, CA 92010, United States., Akman HO; Department of Neurology, Division of Neuromuscular Medicine, Columbia University Irving Medical Center, New York, NY 10032, United States., Storz SHR; Department of Pediatrics, Department of Laboratory Medicine and Pathology, Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, United States., Goffena J; Department of Pediatrics, Department of Laboratory Medicine and Pathology, Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, United States., Pytte J; n-Lorem Foundation, Carlsbad, CA 92010, United States., Miller DE; Department of Pediatrics, Department of Laboratory Medicine and Pathology, Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, United States., Skourti-Stathaki K; n-Lorem Foundation, Carlsbad, CA 92010, United States., Crooke ST; n-Lorem Foundation, Carlsbad, CA 92010, United States. |
| Source: | Nucleic acids research [Nucleic Acids Res] 2025 Jul 08; Vol. 53 (13). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN: 1362-4962 (Electronic) Linking ISSN: 03051048 NLM ISO Abbreviation: Nucleic Acids Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1362-4962 |
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| DOI: | 10.1093/nar/gkaf658 |
