Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.

@article{Nandelstadh2011AnalysisOM,
  title={Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.},
  author={Pernilla von Nandelstadh and Rabah Soliymani and Marc H. Baumann and Olli Carp{\'e}n},
  journal={The Biochemical journal},
  year={2011},
  volume={436 1},
  pages={
          113-21
        }
}
MFM (myofibrillar myopathies) are caused by mutations in several sarcomeric components, including the Z-disc protein myotilin. The morphological changes typical of MFM include Z-disc alterations and aggregation of dense filamentous sarcomeric material. The causes and mechanisms of protein aggregation in myotilinopathies and other forms of MFM remain unknown, although impaired degradation may explain, in part, the abnormal protein accumulation. In the present paper we have studied the mechanisms… CONTINUE READING

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