Pompe Disease Results in a Golgi-based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes

Infantile-onset Pompe disease is an autosomal recessive disorder caused by the complete loss of lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA) activity, which results in lysosomal glycogen accumulation and prominent cardiac and skeletal muscle pathology. The mechanism by which loss o...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Raval, Kunil K., Tao, Ran, White, Brent E., De Lange, Willem J., Koonce, Chad H., Yu, Junying, Kishnani, Priya S., Thomson, James A., Mosher, Deane F., Ralphe, John C., Kamp, Timothy J.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2015
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4317045/
https://ncbi.nlm.nih.gov/pubmed/25488666
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.628628
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