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Article

A molecular link between the common phenotypes of type 1 glycogen storage disease and HNF1alpha-null mice.

The Journal of biological chemistry - 16 Mar 2001

Hiraiwa H, Pan C J, Lin B, Akiyama T E, Gonzalez F J, Chou J Y

Abstract excerpt

The clinical manifestations of type 1 glycogen storage disease (GSD-1) in patients deficient in the glucose-6-phosphatase (G6Pase) system (e.g. growth retardation, hepatomegaly, hyperlipidemia, and renal dysfunction) are shared by Hnf1alpha(-/-) mice deficient of a transcriptional activator, hepatocyte nuclear factor 1alpha (HNF1alpha). However, the molecular mechanism is unknown. The G6Pase system, essential for...

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PMID: 11121425
DOI: 10.1074/jbc.M010523200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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