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Article

PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model

2025-07-04

Abstract excerpt

<h4>Background</h4> Phosphoglucomutase-1 (PGM1) plays a pivotal role in glycolysis, glycogen metabolism, and glycosylation. Pathogenic variants in PGM1 cause PGM1-congenital disorder of glycosylation (PGM1-CDG), a multisystem disorder with cardiac involvement. While glycosylation abnormalities in PGM1-CDG are treatable with galactose, cardiomyopathy does not improve suggesting a glycosylation-independent pathomec...

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Literature Corpus work
f2de66de-7a79-51b7-adfb-949cd57fd2cc
DOI
10.1101/2025.07.01.662580
Open publication

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PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte modelDOI 10.1101/2025.07.01.662580
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