Article
Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.
The Biochemical journal - 15 May 2011
von Nandelstadh Pernilla, Soliymani Rabah, Baumann Marc, Carpen Olli
Abstract excerpt
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...
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