期刊
AUTOPHAGY
卷 6, 期 5, 页码 665-666出版社
LANDES BIOSCIENCE
DOI: 10.4161/auto.6.5.12422
关键词
cardiomyopathy; heart failure; apoptosis; autophagy; protein misfolding; cell death
类别
Accumulation of protein aggregates is a hallmark of several neurodegenerative disorders as well as for a number of protein conformation-based diseases, including those affecting muscle, liver and heart. Desminopathy or desmin-related myopathy (DRM) is a skeletal myopathy characterized by bilateral muscle weakness, but is often accompanied by cardiomyopathy as well. DRM can be caused by mutations in desmin, alphaB crystallin, myotilin, Z-band alternatively spliced PDZ-containing protein (ZASP), filamin C (FLNC) or Bcl-2-associated athanogene-3 (BAG3). The common pathological pattern in DRM is accumulation of misfolded proteins, however, clinical manifestations can differ significantly.
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