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Article

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

Science (New York, N.Y.) - 22 Oct 1993

Lei K J, Shelly L L, Pan C J, Sidbury J B, Chou J Y

Abstract excerpt

Glycogen storage disease (GSD) type 1a is caused by the deficiency of D-glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Despite both a high incidence and morbidity, the molecular mechanisms underlying this deficiency have eluded characterization. In the present study, the molecular and biochemical characterization of the human G6Pase complementary DNA, its gene, and the expressed protein,...

Topics

Amino Acid Sequence
Animals
Base Sequence
Cell Line
DNA, Complementary
Exons
Glucose-6-Phosphatase
Glycogen Storage Disease Type I
Glycosylation
Humans
Liver
Mice

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Protein Conformation

Transfection

Source

Identifiers

PMID: 8211187
DOI: 10.1126/science.8211187

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8211187-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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