Article

Disease-associated programming of cell memory in glycogen storage disorder type 1a

2023-02-20

Abstract excerpt

<h4>Summary</h4> Glycogen storage disorder type 1a (GSD1a) is caused by loss-of-function mutations in the catalytic subunit of glucose-6-phosphatase enzyme ( G6PC1 ) in the liver, kidney and intestine exclusively. Here we show the surprising results that while not expressing G6PC1 , primary skin fibroblasts isolated from GSD1a patients’ skin biopsies preserve a distinctive disease phenotype irrespective of the...

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Literature Corpus work: f7f3dc5a-8823-5994-afb5-e564cd1d6acf
DOI: 10.1101/2023.02.20.529109

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