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Showing 1–4 of 4 results
Advanced filters: Author: Maitea Guridi Clear advanced filters

  • The primary report of the EMBARK phase 3 trial, testing the AAV-based gene therapy delandistrogene moxeparvovec in Duchenne muscular dystrophy, did not meet its primary endpoint of improvement in NSAA mobility scores compared to placebo. Secondary endpoints show that the therapy was safe and associated with improvements in micro-dystrophin expression and in individual mobility scores.

    • Jerry R. Mendell
    • Francesco Muntoni
    • Louise R. Rodino-Klapac
    ResearchOpen Access
    Nature Medicine
    Volume: 31, P: 332-341

  • Denervation leads to muscle atrophy and neuromuscular endplate remodeling. Here, the authors show that a balanced activation of mTORC1 contributes to the dynamic regulation of autophagic flux in denervated muscle and that activation of PKB/Akt promotes the nuclear import of HDAC4, which is essential for endplate maintenance upon nerve injury

    • Perrine Castets
    • Nathalie Rion
    • Markus A. Rüegg
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16

  • mTORC1 expression is increased during ageing of muscle, and on the other hand, its activation promotes muscle hypertrophy. Here, the authors assess whether mTORC1 has positive or negative effects on ageing, and show that its long-term inhibition preserves muscle mass and function and neuromuscular junction integrity, whereas muscle-specific activation is associated with sarcopenia.

    • Daniel J. Ham
    • Anastasiya Börsch
    • Markus A. Rüegg
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-21