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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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40671519 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Thomas+R%22">Thomas R</searchLink>; n-Lorem Foundation, Carlsbad, CA 92010, United States.<br /><searchLink fieldCode="AU" term="%22Miyoshi+E%22">Miyoshi E</searchLink>; n-Lorem Foundation, Carlsbad, CA 92010, United States.<br /><searchLink fieldCode="AU" term="%22Akman+HO%22">Akman HO</searchLink>; Department of Neurology, Division of Neuromuscular Medicine, Columbia University Irving Medical Center, New York, NY 10032, United States.<br /><searchLink fieldCode="AU" term="%22Storz+SHR%22">Storz SHR</searchLink>; Department of Pediatrics, Department of Laboratory Medicine and Pathology, Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, United States.<br /><searchLink fieldCode="AU" term="%22Goffena+J%22">Goffena J</searchLink>; Department of Pediatrics, Department of Laboratory Medicine and Pathology, Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, United States.<br /><searchLink fieldCode="AU" term="%22Pytte+J%22">Pytte J</searchLink>; n-Lorem Foundation, Carlsbad, CA 92010, United States.<br /><searchLink fieldCode="AU" term="%22Miller+DE%22">Miller DE</searchLink>; Department of Pediatrics, Department of Laboratory Medicine and Pathology, Brotman Baty Institute for Precision Medicine, University of Washington, Seattle, WA 98195, United States.<br /><searchLink fieldCode="AU" term="%22Skourti-Stathaki+K%22">Skourti-Stathaki K</searchLink>; n-Lorem Foundation, Carlsbad, CA 92010, United States.<br /><searchLink fieldCode="AU" term="%22Crooke+ST%22">Crooke ST</searchLink>; n-Lorem Foundation, Carlsbad, CA 92010, United States. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220411011%22">Nucleic acids research</searchLink> [Nucleic Acids Res] 2025 Jul 08; Vol. 53 (13). – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Oxford+University+Press%22">Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>0411011 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1362-4962 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203051048%22">03051048 </searchLink><i>NLM ISO Abbreviation: </i>Nucleic Acids Res <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40671519 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1093/nar/gkaf658 Languages: – Code: eng Text: English Titles: – TitleFull: Splice-modulating antisense oligonucleotides targeting a pathogenic intronic variant in adult polyglucosan body disease correct mis-splicing and restore enzyme activity in patient cells. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Thomas R – PersonEntity: Name: NameFull: Miyoshi E – PersonEntity: Name: NameFull: Akman HO – PersonEntity: Name: NameFull: Storz SHR – PersonEntity: Name: NameFull: Goffena J – PersonEntity: Name: NameFull: Pytte J – PersonEntity: Name: NameFull: Miller DE – PersonEntity: Name: NameFull: Skourti-Stathaki K – PersonEntity: Name: NameFull: Crooke ST IsPartOfRelationships: – BibEntity: Dates: – D: 08 M: 07 Text: 2025 Jul 08 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1362-4962 Numbering: – Type: volume Value: 53 – Type: issue Value: 13 Titles: – TitleFull: Nucleic acids research Type: main |
| ResultId | 1 |
