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Title:

Systemic deletion of DMD exon 51 rescues clinically severe Duchenne muscular dystrophy in a pig model lacking DMD exon 52.

Document type:
Article; Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Stirm, Michael; Shashikadze, Bachuki; Blutke, Andreas; Kemter, Elisabeth; Lange, Andreas; Stöckl, Jan B; Jaudas, Florian; Laane, Laeticia; Kurome, Mayuko; Keßler, Barbara; Zakhartchenko, Valeri; Bähr, Andrea; Klymiuk, Nikolai; Nagashima, Hiroshi; Walter, Maggie C; Wurst, Wolfgang; Kupatt, Christian; Fröhlich, Thomas; Wolf, Eckhard
Abstract:
Duchenne muscular dystrophy (DMD) is a fatal X-linked disease caused by mutations in the DMD gene, leading to complete absence of dystrophin and progressive degeneration of skeletal musculature and myocardium. In DMD patients and in a corresponding pig model with a deletion of DMD exon 52 (DMDΔ52), expression of an internally shortened dystrophin can be achieved by skipping of DMD exon 51 to reframe the transcript. To predict the best possible outcome of this strategy, we generated DMDΔ51-52 pig...     »
Journal title abbreviation:
Proc Natl Acad Sci U S A
Year:
2023
Journal volume:
120
Journal issue:
29
Fulltext / DOI:
doi:10.1073/pnas.2301250120
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37428903
Print-ISSN:
0027-8424
TUM Institution:
617; Klinik und Poliklinik für Innere Medizin I, Kardiologie (Prof. Laugwitz); Professur für Kardiovaskuläre Translation in Großtiermodellen (Prof. Klymiuk)
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