منابع مشابه
Lipids, lysosomes, and autophagy.
Lipids are essential components of a cell providing energy substrates for cellular processes, signaling intermediates, and building blocks for biological membranes. Lipids are constantly recycled and redistributed within a cell. Lysosomes play an important role in this recycling process that involves the recruitment of lipids to lysosomes via autophagy or endocytosis for their degradation by ly...
متن کاملNew Pathogenetic Mechanisms that Link Autophagy to Pompe Disease.
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 lyso...
متن کاملAutophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease.
Enzyme replacement therapy (ERT) became a reality for patients with Pompe disease, a fatal cardiomyopathy and skeletal muscle myopathy caused by a deficiency of glycogen-degrading lysosomal enzyme acid alpha-glucosidase (GAA). The therapy, which relies on receptor-mediated endocytosis of recombinant human GAA (rhGAA), appears to be effective in cardiac muscle, but less so in skeletal muscle. We...
متن کاملPompe disease
Pompe disease is an autosomal recessive condition with an incidence of around 1 in 40,000 in the general population, and is caused by a deficiency of the enzyme acid alphaglucosidase. Clinical features occur due to the deposition and accumulation of glycogen within lysosomes, most notably those within the cardiac and skeletal muscles. The extent of this enzyme deficiency affects both the age of...
متن کاملPregnancy in Pompe disease
Pregnancy in Pompe disease is still a rare event. Only few reports have been published. Physiological changes of pregnancy may be aggravated by Pompe disease or vice versa. Both may pose a risk for the mother and the unborn child. This talk outlines physiological changes of the cardiovascular, respiratory and hormonal system during pregnancy and delineates the impact on a 36-year-old Pompe pati...
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ژورنال
عنوان ژورنال: Autophagy
سال: 2006
ISSN: 1554-8627,1554-8635
DOI: 10.4161/auto.2984