Myofibrillar instability exacerbated by acute exercise in filaminopathy.

  title={Myofibrillar instability exacerbated by acute exercise in filaminopathy.},
  author={Fr{\'e}d{\'e}ric Chevessier and Julia Schuld and Zacharias Orfanos and A. Plank and Lucie Wolf and Alexandra Maerkens and A. U. Unger and Ursula M. Schl{\"o}tzer-Schrehardt and Rudolf Andr{\'e} Kley and Stephan von H{\"o}rsten and Katrin Marcus and Wolfgang A Linke and Matthias Vorgerd and Peter F. M. van der Ven and Dieter O. F{\"u}rst and Reinhard Schr{\"o}der},
  journal={Human molecular genetics},
  volume={24 25},
Filamin C (FLNC) mutations in humans cause myofibrillar myopathy (MFM) and cardiomyopathy, characterized by protein aggregation and myofibrillar degeneration. We generated the first patient-mimicking knock-in mouse harbouring the most common disease-causing filamin C mutation (p.W2710X). These heterozygous mice developed muscle weakness and myofibrillar instability, with formation of filamin C- and Xin-positive lesions streaming between Z-discs. These lesions, which are distinct from the… CONTINUE READING
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The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy

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Aciculin interactswith filaminC andXin and is essential formyofibril assembly, remodeling andmaintenance

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