Autophagy in desmin-related cardiomyopathy: thoughts at the halfway point.
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.
Maloyan
Alina
A
Robbins
Jeffrey
J
D000818:Animals; D001343:Autophagy; D009202:Cardiomyopathies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D006333:Heart Failure / Q000235:genetics / Q000378:metabolism; D051379:Mice; D009136:Muscular Dystrophies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology*; D017354:Point Mutation; D017510:Protein Folding; D019253:Proto-Oncogene Proteins c-bcl-2 / Q000235:genetics / Q000378:metabolism*; D038203:alpha-Crystallin B Chain / Q000235:genetics* / Q000378:metabolism*
C525420:Cryab protein, mouse; D019253:Proto-Oncogene Proteins c-bcl-2; D038203:alpha-Crystallin B Chain; C052617:Bcl2 protein, mouse