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Autophagy in skeletal muscle: implications for Pompe disease

Pompe disease is caused by an inherited deficiency of acid α-glucosidase (GAA), a lysosomal enzyme that catalyzes the breakdown of glycogen to glucose. In the absence of GAA, enlarged, glycogen-laden lysosomes accumulate in multiple tissues, although the major clinical manifestations are seen in car...

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Bibliografske podrobnosti
Main Authors: Shea, L., Raben, N.
Format: Artigo
Jezik:Inglês
Izdano: 2009
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC2948975/
https://ncbi.nlm.nih.gov/pubmed/20040311
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