Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease

Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by acid alpha-glucosidase (GAA) deficiency, leading to lysosomal glycogen accumulation. Affected individuals store glycogen mainly in cardiac and skeletal muscle tissues resulting in fatal hypertrophi...

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Publicat a:Hum Mol Genet
Autors principals: Douillard-Guilloux, Gaelle, Raben, Nina, Takikita, Shoichi, Ferry, Arnaud, Vignaud, Alban, Guillet-Deniau, Isabelle, Favier, Maryline, Thurberg, Beth L., Roach, Peter J., Caillaud, Catherine, Richard, Emmanuel
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2010
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Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6281383/
https://ncbi.nlm.nih.gov/pubmed/19959526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp535
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