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Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA.;Harvard Univ, Sch Med, Dept Pediat & Genet, Boston, MA 02115 USA.;Univ Sao Paulo, Biosci Inst, Human Genome & Stem Cell Ctr, BR-05508090 Sao Paulo, Brazil..
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Medical Biochemistry and Microbiology. Uppsala University, Science for Life Laboratory, SciLifeLab. Broad Inst Harvard & Massachusetts Inst Technol, Cambridge, MA 02142 USA..
Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA.;Harvard Univ, Sch Med, Dept Pediat & Genet, Boston, MA 02115 USA.;Boston Childrens Hosp, Stem Cell Program, Boston, MA 02115 USA..
Univ Sao Paulo, Inst Quim, Dept Bioquim, BR-05508000 Sao Paulo, Brazil..
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2015 (English)In: Cell, ISSN 0092-8674, E-ISSN 1097-4172, Vol. 163, no 5, 1204-1213 p.Article in journal (Refereed) Published
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Abstract [en]

Duchenne muscular dystrophy (DMD), caused by mutations at the dystrophin gene, is the most common form of muscular dystrophy. There is no cure for DMD and current therapeutic approaches to restore dystrophin expression are only partially effective. The absence of dystrophin in muscle results in dysregulation of signaling pathways, which could be targets for disease therapy and drug discovery. Previously, we identified two exceptional Golden Retriever muscular dystrophy (GRMD) dogs that are mildly affected, have functional muscle, and normal lifespan despite the complete absence of dystrophin. Now, our data on linkage, whole-genome sequencing, and transcriptome analyses of these dogs compared to severely affected GRMD and control animals reveals that increased expression of Jagged1 gene, a known regulator of the Notch signaling pathway, is a hallmark of the mild phenotype. Functional analyses demonstrate that Jagged1 overexpression ameliorates the dystrophic phenotype, suggesting that Jagged1 may represent a target for DMD therapy in a dystrophin-independent manner.

Place, publisher, year, edition, pages
2015. Vol. 163, no 5, 1204-1213 p.
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Cell and Molecular Biology
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URN: urn:nbn:se:uu:diva-272286DOI: 10.1016/j.cell.2015.10.049ISI: 000366044700018PubMedID: 26582133OAI: oai:DiVA.org:uu-272286DiVA: diva2:895210
Funder
Swedish Research CouncilEU, European Research CouncilNIH (National Institute of Health)
Available from: 2016-01-18 Created: 2016-01-13 Last updated: 2017-11-30Bibliographically approved

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Elvers, IngegerdLindblad-Toh, Kerstin

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