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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Библиографические подробности
Опубликовано в: :J Biol Chem
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: American Society for Biochemistry and Molecular Biology 2015
Предметы:
Molecular Bases of Disease
Online-ссылка: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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