Proteomics

Dataset Information

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Proteome analysis of skeletal muscle samples from a porcine model of Duchenne muscular dystrophy treated by somatic gene editing


ABSTRACT: Duchenne muscular dystrophy (DMD) is caused by genetic deficiency of dystrophin and characterized by massive structural and functional changes of skeletal muscle tissue, leading to terminal muscle failure. In this project, proteomics data from skeletal muscle of a genetically engineered DMD pig model treated by somatic gene editing are shown.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Sus Scrofa Domesticus (domestic Pig)

TISSUE(S): Skeletal Muscle

DISEASE(S): Duchenne Muscular Dystrophy

SUBMITTER: Thomas Fröhlich  

LAB HEAD: Thomas Fröhlich

PROVIDER: PXD014893 | Pride | 2020-02-05

REPOSITORIES: Pride

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Publications

Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy.

Moretti A A   Fonteyne L L   Giesert F F   Hoppmann P P   Meier A B AB   Bozoglu T T   Baehr A A   Schneider C M CM   Sinnecker D D   Klett K K   Fröhlich T T   Rahman F Abdel FA   Haufe T T   Sun S S   Jurisch V V   Kessler B B   Hinkel R R   Dirschinger R R   Martens E E   Jilek C C   Graf A A   Krebs S S   Santamaria G G   Kurome M M   Zakhartchenko V V   Campbell B B   Voelse K K   Wolf A A   Ziegler T T   Reichert S S   Lee S S   Flenkenthaler F F   Dorn T T   Jeremias I I   Blum H H   Dendorfer A A   Schnieke A A   Krause S S   Walter M C MC   Klymiuk N N   Laugwitz K L KL   Wolf E E   Wurst W W   Kupatt C C  

Nature medicine 20200127 2


Frameshift mutations in the DMD gene, encoding dystrophin, cause Duchenne muscular dystrophy (DMD), leading to terminal muscle and heart failure in patients. Somatic gene editing by sequence-specific nucleases offers new options for restoring the DMD reading frame, resulting in expression of a shortened but largely functional dystrophin protein. Here, we validated this approach in a pig model of DMD lacking exon 52 of DMD (DMDΔ52), as well as in a corresponding patient-derived induced pluripoten  ...[more]

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