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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Bibliografske podrobnosti
izdano v: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.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2015
Teme:
Molecular Bases of Disease
Online dostop: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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