Search Results - "Freiburg, Carolin D."

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  1. 1
    The UCMD-Causing COL6A1 (c.930+189C>T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains

    The UCMD-Causing COL6A1 (c.930+189C>T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains by Freiburg, Carolin D., Solomon-Degefa, Herimela, Freiburg, Patrick, Mörgelin, Matthias, Bolduc, Véronique, Schmitz, Sebastian, Ala, Pierpaolo, Muntoni, Francesco, Behrmann, Elmar, Bönnemann, Carsten G., Schiavinato, Alvise, Paulsson, Mats, Wagener, Raimund

    Published in Human mutation (06-09-2023)
    “…Collagen VI is a unique member of the collagen family. Its assembly is a complex multistep process and the vulnerability of the process is manifested in…”
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    Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations

    Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations by Solomon-Degefa, Herimela, Gebauer, Jan M., Jeffries, Cy M., Freiburg, Carolin D., Meckelburg, Patrick, Bird, Louise E., Baumann, Ulrich, Svergun, Dmitri I., Owens, Raymond J., Werner, Jörn M., Behrmann, Elmar, Paulsson, Mats, Wagener, Raimund

    Published in The Journal of biological chemistry (04-09-2020)
    “…Collagen VI is a ubiquitous heterotrimeric protein of the extracellular matrix (ECM) that plays an essential role in the proper maintenance of skeletal muscle…”
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