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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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| 主要な著者: | , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2009
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2948975/ https://ncbi.nlm.nih.gov/pubmed/20040311 |
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