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• W3039137593 abstract "Most patients affected by Glycogen storage disease type 1a (GSD-1a), an inherited metabolic disorder caused by mutations in the enzyme glucose-6-phosphatase-alpha (G6Pase-α), develop renal and liver complications, including development of hepatocellular adenoma/carcinoma. The purpose of this study was to identify potential biomarkers of the pathophysiology of the GSD1a affected liver. To this end, we utilized the plasma exosomes of a murine model of GSD-1a, LS-G6pc−/− mice, to uncover microRNA expression modulation associated with the disease. Differentially expressed microRNA between LS-G6pc−/− and wild type mice, LS-G6pc−/− mice with hepatocellular adenoma and LS-G6pc−/− mice without adenoma, and LS-G6pc−/− mice with amyloidosis and LS-G6pc−/− mice without amyloidosis were identified. Pathway analysis demonstrated that the target genes of the differentially expressed microRNA were significantly enriched for insulin signaling pathway, glucose and lipid metabolism, Wnt-beta catenin, telomere maintenance and hepatocellular carcinoma, and chemokine and immune regulation signaling pathways. While some microRNA were common to the different pathologic conditions others were unique to cancerous or inflammatory status of the animals. Therefore, the altered expression of several microRNA correlates with various pathologic liver statuses and may help discriminate during the progression of the disease and the development of late GSD1-a associated complications." @default.
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• W3039137593 date "2020-01-01" @default.
• W3039137593 modified "2023-10-14" @default.
• W3039137593 title "Circulating exosomal microRNA as potential biomarkers of hepatic injury and inflammation inGlycogen storage disease type 1a" @default.
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• W3039137593 doi "https://doi.org/10.1242/dmm.043364" @default.
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• W3039137593 hasPublicationYear "2020" @default.
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