Browsing by Author "Münchberg, Ute"

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  • González Coraspe, José Andrés; Weis, Joachim; Anderson, Mary E.; Münchberg, Ute; Lorenz, Kristina; Buchkremer, Stephan; Carr, Stephanie; Zahedi, René P.; Brauers, Eva; Michels, Hannah; Sunada, Yoshihide; Lochmüller, Hanns; Campbell, Kevin P.; Freier, Erik; Hathazi, Denisa; Roos, Andreas (BioMed Central, 2018)
    Background: Caveolin-3 (CAV3) is a muscle-specific protein localized to the sarcolemma. It was suggested that CAV3 is involved in the connection between the extracellular matrix (ECM) and the cytoskeleton. Caveolinopathies ...
  • Gangfuß, Andrea; Czech, Artur; Hentschel, Andreas; Münchberg, Ute; Horvath, Rita; Töpf, Ana; O'Heir, Emily; Lochmüller, Hanns; Stehling, Florian; Kiewert, Cordula; Sickmann, Albert; Kuechler, Alma; Kaiser, Frank J.; Kölbel, Heike; Christiansen, Jon; Schara-Schmidt, Ulrike; Roos, Andreas (Wiley, 2022)
    Recessive variants in WASHC4 are linked to intellectual disability complicated by poor language skills, short stature, and dysmorphic features. The protein encoded by WASHC4 is part of the Wiskott-Aldrich syndrome protein ...

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