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Article

Pompe disease results in a Golgi-based glycosylation deficit in human induced pluripotent stem cell-derived cardiomyocytes.

The Journal of biological chemistry - 30 Jan 2015

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

Abstract excerpt

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 of GAA activity causes cardiomyopathy is poorly understood. We reprogrammed fibroblasts from patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25488666
DOI: 10.1074/jbc.M114.628628
PMCID: PMC4317045

Genes

GAA
LAMP2
LAMP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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