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    Transcriptome analysis in a primary human muscle cell differentiation model for myotonic dystrophy type 1

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    Authors
    Todorow, V.
    Hintze, S.
    Kerr, Alastair R W
    Hehr, A.
    Schoser, B.
    Meinke, P.
    Affiliation
    Department of Neurology, Friedrich-Baur-Institute, LMU Klinikum, Ludwig-Maximilians-University Munich, 80336 Munich, Germany
    Issue Date
    2021
    
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    Abstract
    Myotonic dystrophy type 1 (DM1) is caused by CTG-repeat expansions leading to a complex pathology with a multisystemic phenotype that primarily affects the muscles and brain. Despite a multitude of information, especially on the alternative splicing of several genes involved in the pathology, information about additional factors contributing to the disease development is still lacking. We performed RNAseq and gene expression analyses on proliferating primary human myoblasts and differentiated myotubes. GO-term analysis indicates that in myoblasts and myotubes, different molecular pathologies are involved in the development of the muscular phenotype. Gene set enrichment for splicing reveals the likelihood of whole, differentiation stage specific, splicing complexes that are misregulated in DM1. These data add complexity to the alternative splicing phenotype and we predict that it will be of high importance for therapeutic interventions to target not only mature muscle, but also satellite cells.
    Citation
    Todorow V, Hintze S, Kerr ARW, Hehr A, Schoser B, Meinke P. Transcriptome Analysis in a Primary Human Muscle Cell Differentiation Model for Myotonic Dystrophy Type 1. IJMS. 2021 Aug 10;22(16):8607.
    Journal
    International Journal of Molecular Sciences
    URI
    http://hdl.handle.net/10541/624636
    DOI
    10.3390/ijms22168607
    PubMed ID
    34445314
    Additional Links
    https://dx.doi.org/10.3390/ijms22168607
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.3390/ijms22168607
    Scopus Count
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    All Paterson Institute for Cancer Research

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