New Pathogenetic Mechanisms that Link Autophagy to Pompe Disease.

نویسندگان

  • Anna Chiara Nascimbeni
  • Marina Fanin
  • Corrado Angelini
  • Marco Sandri
چکیده

Skeletal muscle is one of the tissues with the highest rate of autophagosome formation and degradation. A group of congenital myopathies, characterised by lysosomal alteration, are described by massive autophagic build-up and are named Autophagic Vacuolar Myopathies (AVM). Among these disorders, Danon disease (DD) and Pompe (GSD2) are characterised by the presence of large glycogen-fi lled lysosomes in the skeletal muscle. We have recently shown that autophagy impairment contributes to disease progression in GSD2 patients. However, the mechanism that leads to autophagy inhibition, and whether this impairment is shared in other AVM in humans is an open issue.

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عنوان ژورنال:
  • Journal of neuromuscular diseases

دوره 2 s1  شماره 

صفحات  -

تاریخ انتشار 2015